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2001 MCRI Annual Report

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We have a vision of o world where no infant, child or adolescent suffers illness and where research guarantees the best health for all young people

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Our mission is to conduct research of the highest quality in every aspect of child health, to ensure the best quality of life for oil children Our scientific and clinical research is integrated with community health, education and ethics We will apply the outcomes of new information technology and the human genome project to maximise improvements in health

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We will strive to be the pre-eminent child health research institute in the world


Healthier kids. Healthier future.

Patron

Director

Dame Elisabeth Murdoch AC DBE

Professor Robert Williamson FRS FAA


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Our People

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Student Profiies

32

Chairman & Director's Report

6

Biotechnoiogy & Commerciaiisation

34

Ceii & Matrix Bioiogy

56

Services Victoria

Board of Directors

9

Grants & Awards

35

Moiecuiar Deveiopment

57

Executive Committee

76

Board Committees

10

Patron Dame Eiisabeth Murdoch

11

Supporters & Coiiaborators

12

Keeping Children Healthy

Organisationai Chart

13

CEBU, Eariy Determinants of Heaith

Research Group Leaders

14

Community Chiid Heaith

Executive Committee

15

internationai Chiid Heaith

Management Report

16

Adoiescent Heaith

43

Staff List

18

Pubiic Heaith & Genetics

44

Our Research

A Healthier Future

Genetic Health

Embryoiogy

58

Director's Report

77

Craniofaciai Sciences

59

Ciinicai Services

78

Microbioiogy & infectious Diseases

60

Laboratory Services

80

Gastroenteroiogy & Ciinicai Nutrition

61

Education, Training &

81

41

Surgicai Research

62

Research

42

Hormone Research

63

Staff List

82

Pituitary Research, Staph & Strep

64 Publications

83

Financial Report

93

Our Supporters

112

40

Genetics and New Technology Highlights of 2001

Life Saving Research

Genetic Education

66

Year in Review

24

Cancer Research

46

Ethics

67

Stem Cells

26

Neonatal Care

47

Ceil & Gene Therapy

68

Research Highlights

28

Cardiology, VIBeS

48

Dermal Therapeutics

69

Mini Chromosomes'

Asthma, Allergy & Immune Disorders

49

Cancer Genomics

70

Haemscreen

Child Development & Rehabilitation

50

Chromosome Research

71

Childhood Obesity

Orthopaedics - Hugh Williamson

51

Gene Identification & Expression

72

Cerebral Palsy

Gait Analysis Service

Gene Discovery

73

j ii Premature Babies

Nursing Research, Paediatric Anaesthesia

52

Mitochondrial Research

74

Neurosciences

53

Psychological Development

54

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Liver Cell Bank

ANNUAL REPORT 2001

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Chairman & Director's Report Our second year as the Murdoch Childrens Research Institute saw the benefits of our merger in 2000 really begin to flow. We were awarded many new grants, appointed new staff and attracted many new supporters. In close collaboration with our Royal Children's Hospital and University of Melbourne colleagues, we worked hard to ensure that the Murdoch Childrens retains the highest respect of the world of child health research. Securing Our Future Increased resources were directed to improving our

Our grant income has more than doubled since the

We have received some funding from the Victorian

skills in preparing grant applications, to ensure a better

merger, with the Institute now receiving around $16

Government Science, Technology and Innovation

success rate than in the past. As a direct result, our

million per annum in competitive funding. This is a

Initiative and from the Commonwealth, as well as

staff

grants

strong confirmation that we are producing work of

from Rotary and Kids with Cancer. Following

commencing in 2002 (eight in 2001), and several

the highest standard, and benchmarking our efforts

approval from both the MCRI and Royal Children's

senior and junior fellowships. We have also

against the best teams in the world. This success has

Flospital boards, we are now seeking additional

encouraged staff to apply overseas, and several have

been across all areas of our research - public health,

support to match these grants to enable the $30

won United States competitive grants in head-to-head

clinical and laboratory, and education and ethics.

million proposal to proceed.

New Research Space

The new space will be adjacent to existing clinical

This success, however welcome, has created a serious

and research facilities, helping to achieve our

space problem as our numbers have grown by 100 to

objective of a fully integrated campus, with

almost 550. Fortunately, an opportunity exists to

research from bench to bedside to community. It

extend research facilities within the existing Royal

will allow us to implement our strategic plan,

Children's Flospital campus. A new building has been

coordinated with that of the Royal Children's

planned which will accommodate priority research

Flospital, to ensure that all of our grants and

needs, including our flourishing Australian Paediatric

donations are used to provide the best research and

Clinical Trials Unit, and also space for much-needed

enable the ongoing pursuit of our mission "to make

integration between research and clinical care in

sick children better".

won

fourteen

NHMRC

project

competition with the best international researchers.

areas such as oncology and cell therapy.

ANNUAL REPORT 2001

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Research Achievements We urge you to read of the achievements of our

Our unique strengths in ethics, genetic education and

research teams set out on pages 40-74 in this

public health keep the community informed and

report. One example is the great advance in our

provoke public interest and debate in controversial

understanding of cerebral palsy being made

areas like genetic screening, cloning and stem cell

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through the combined efforts of surgeons,

research. We have a particular commitment to offering

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occupational

school-based and GP education, addressing areas like

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therapists,

physiotherapists,

neonatologists and other disciplines.

the need for immunisation, advances in genetics and oa

depression in adolescence.

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Also consider the combined group of geneticists, ethicists, gastroenterologists and education experts

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International Collaboration

offering tests for haemochromatosis under the

MCRI attracts many international visitors each year.

HaemScreen program, with a keynote national

Collaboration today is an essential part of research,

agreement from insurance companies that no

and both the Royal Children's Hospital and MCRI

discrimination will result. Consider the priority-

are particularly active in research partnerships with

driven research in adolescent health, working to

neighbouring countries such as Indonesia, Viet­

reduce the burden of addiction among teenagers.

nam and India. We have 100 students taking

Informing Our Community

doctors and scientists will remain our closest friends

MCRI is committed to open communication with all

and collaborators when they return home.

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higher degrees, including many from abroad. These

our stakeholders. We actively promote the importance of research for better treatments, health prevention and health promotion. Our staff also provides expert comment on many issues, especially around genetics, ethics, child and adolescent health. Our higher profile has contributed to increased support for our work.

ANNUAL REPORT 200 1

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Thank You As a direct result of research, many children enjoy a quality of life that would have been unimaginable twenty years ago. We are indebted to our researchers, the people who make it happen, and we thank them for their dedication over the last year. Finally we would like to thank all our supporters, particularly our Patron, Dame Elisabeth Murdoch, and the Board and Committees, for their generous gifts of time and support, and for their commitment to our vision and success. Protecting Our Discoveries We are increasing our focus on ensuring that Australia benefits from the intellectual property developed as a result of our research. During 2001, one of the successes of our biotechnology commercialisation program was Antisense Therapeutics Ltd, which was successfully listed on

Mr Laurence G Cox AO Chairman

the Australian Stock Exchange. Through a new, forward looking policy of sharing the benefits of new discoveries with our staff, we aim to ensure that applied research continues in our country, rather than moving to the USA or Europe,

Professor Robert Williamson FRS FAA Director

as so often happened in the past.

ANNUAL REPORT 2001

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Board of Directors Directors bring to the Board a diverse range of expertise across business and finance, health and research. The Board provides direction and evaluates the Institute's performance.

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a.

Mr Laurence G Cox AO - Chairman

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b.

Mr WH Hodgson - Deputy Chairman

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c.

Dr Kathy Alexander

d.

Mr Martin Armstrong

e.

Mr Peter Bartels (from December 2001)

f.

Mrs Janet Calvert-Jones AM

g.

Associate Professor Anthony Dart

h.

Ms Jane Fenton

i.

Mr Peter Griffin

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Mrs Judy Paterson

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Professor Richard Smallwood AO

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Professor Geoff Tregear

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Professor Robert Williamson FRS FAA

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Board Resignations Ms Helen Davison (October 2001) Professor Kerin O'Dea (October 2001) Professor David Penington AC (December 2001) Professor Peter Smith (October 2001)

ANNUAL REPORT 2001

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Board Committees Investment Committee

Research Advisory Committee

Career Grant Committee

Honorary Fellows

Mr Peter Griffin - Chairman

Professor Geoff Tregear - Chairman

Professor Graham Brown - Chairman

Professor Jim Camakaris

Mr Charles Abbott

Professor Glenn Bowes

Professor Glenn Bowes

Professor Dick Cotton

Mr Laurence Cox AO

Ms Anne Cronin

Professor Andy Choo

Professor John Hopper

Mr David Craig

Dr Peter Dargaville

Ms Anne Cronin

Professor Ed Janus

Mrs Patricia Cross

Associate Professor Elizabeth Elliott

Professor John Hutson

Professor Ismail Kola

Mr Josef Czyzewski

Professor Christopher Fairley

Dr Nicky Kilpatrick

Professor Julian Mercer

Mr Simon Dighton

Professor Mary-Jane Gething

Professor John Mills

Professor Terry Nolan

Mr Ian Miller

Professor Nick Hoogenraad

Dr Paul Monagle

Professor Roger Short

Professor John Hopper

Professor George Patton

A/Professor Each de Crespigny

Professor Frank Oberklaid

Associate Professor Susan Sawyer

Dr Michael Aldred

Professor George Patton

Professor Robert Williamson FRS FAA

Dr Jane Burns

Mr John Nickson Mr Ian Veal

Dr Simon Foote

Audit & Finance Committee

Professor Sheena Reilly

Mr WH Hodgson - Chairman

Associate Professor Susan Sawyer

Trainee Research Scholarships

Dr Susan Forrest

Mr Martin Armstrong

Associate Professor Andrew Sinclair

Professor Geoff Tregear - Chairman

Dr Nick Hoogenraad

Mr Laurence Cox AO

Associate Professor Euan Wallace

Associate Professor Vicki Anderson

Dr David Mackey

Mr David Craig

Professor Robert Williamson FRS FAA

Dr Alex Auldist

Dr George Rudy

Professor Graeme Barnes

Ms Anne Cronin Occupational Health & Safety

Professor John Bateman

Commercialisation/IP Committee

Marisa Fielding - Chairman

Professor Glenn Bowes

Professor Geoff Tregear - Chairman

Andrea Bigham

Ms Anne Cronin

Mr Martin Armstrong

Jamie Fitzgerald

Ms Jane Miller

Ms Linda Berry

Alana Gardiner

Dr Margot Nash

Ms Anne Cronin

Wendy Hutchison

Professor Terry Nolan

Mr Bob Moses

Robyn McNeil

Professor Sheena Reilly

Mr George Raitt

Suzanne Nadjovska

Professor Peter Smith

Frances Oppedisano

Professor Robert Williamson FRS FAA

Janet Shaw Helen Wilmore

ANNUAL REPORT 2001

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Patron Dame Elisabeth Murdoch AC DBE Dame Elisabeth Murdoch is an astute and passionate philanthropist with a firm commitment to the health and welfare of children. For more than 65 years. Dame Elisabeth has enjoyed a close association with the Royal Children's Hospital in Melbourne, Australia. She was President of the Hospital from 1954 to 1965 and founded the Murdoch Institute in 1984.

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o Throughout 2001, our Patron Dame Elisabeth Murdoch continued to demonstrate her commitment to our vision and success. She was President of the Hospital from 1954 to 1965 and has supported the Murdoch Institute since its formation in 1986. Dame Elisabeth's entire family has an outstanding commitment to the Institute, and a long history of

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support. Her grandchildren hosted and supported several special events in 2001, including the Shelley Beach Classic and YAFFA Ball. Daughter Janet CalvertJones and granddaughter Judy Paterson continued to serve as Directors of the Board. Our Ambassador Sarah O'Hare was instrumental in raising the profile of MCRI in the community.

Patron Dame Elisabeth Murdoch with Chairman Laurence G Cox

ANNUAL

REPORT

2001

11


Supporters & Collaborators Our research achievements would not have been possible without the shared vision and support of the Royal Children's Hospital. The Good Friday Appeal, which raised more than $7.5 million in 2001, supports our research programs to ensure the best possible quality of life for all children and their families.

other major supporters include the University of Melbourne, the Federal Government through the National Health and Medical Research Council (NHMRC) and other departments, and the Victorian Government through the Department of Human Services and VicHealth. Many charitable foundations generously support our research - the Jack Brockoff Foundation, Miller Foundation, Helen Macpherson Smith Trust, Scobie and Claire Mackinnon Trust, Pratt Foundation, Beyondblue, Garnett Passe and Rodney Williams Memorial Foundation, and many others contributed in 2001. International funding continued to increase, with major support coming from the National Institutes of Health (USA), Wellcome Trust (UK) and Muscular Dystrophy Association (USA).

ANNUAL REPORT 2001

12


Organisational Chart I

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The Board Chairman Laurence Cox AO

Director Professor Robert Wiiiiamson FRS FAA

Operations Associate Director Anne Cronin

Laboratory Research Associate Director Professor John Bateman

Public Health Research Associate Directors Professor Frank Oberkiaid Professor George Patton

Members

-- Executive Committee I

Administration

T Cancer Genomics T

Ciinical Research Associate Directors Professor FI Kerr Graham Professor John Flutson

Building & Scientific Services

Cell & Gene Therapy T

Board Committees

|

Research Advisory Committee

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Stakeholders Bioinformatics

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Cell & Matrix Biology T Chromosome Research J

T

Design Services

Dermal Therapeutics

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Commercialisation

Embryology Financial Services Gene Discovery Grants Management Gene Identification & Expression

Fluman Resources & Industrial Relations

Support Services

1 Microbiology & Infectious Diseases I Mitochondrial Research ]

Strategy Associate Director Professor Andy Choo

Ethics Professor Julian Savulescu

Adoiescent Fleaith Community Child Health

Cancer Research T Cardiology Child Development & Rehabilitation

Clinical Epidemiology & Biostatistics Early Determinants of Fleaith International Child Fleaith

Craniofacial Sciences

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Public Fleaith & Genetics Gastroenterology & Clinical Nutrition Neonatal Care

Flormone Research I Information Technology

Asthma, Aliergy & immune Disorders

Neurosciences Nursing & Allied Health | Orthopaedics Hugh Williamson Gait Laboratory

Molecular Development | Pituitary Diseases

Paediatric Anaesthesia

Surgical Research

Paediatric Drugs Psychological Development

Genetic Education Dr Sylvia Metcalfe

Pubiic Relations Dr Narelle Curtis

ANNUAL REPORT 2001

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Executive Committee The Executive Committee comprises the Chairman, Director and seven Associate Directors of the MCRI. a.

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a. Professor John Bateman Associate Director, Laboratory Research

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b. Professor Andy Choo Associate Director, Strategy c. Mr Laurence Cox AO MCRI Chairman

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d. Ms Anne Cronin Associate Director, Operations e. Professor H Kerr Graham Associate Director, Clinical Research f. Professor John Hutson Associate Director, Clinical Research g. Professor Frank Oberklaid Associate Director, Public Health Research h. Professor George Patton Associate Director, Public Health Research i. Professor Robert Williamson MCRI Director Professor Glenn Bowes Representing Royal Children's Hospital Associate Professor Susan Sawyer Representing Department of Paediatrics, University of Melbourne

ANNUAL REPORT 200 1

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Management Report Administration and Support Services had an excellent year, expanding and introducing a number of new initiatives. Operational support staff grew as the demand for their services increased - staff on the institute payroll increased by almost 100, and the number and value of external grants almost tripled over the year 2001. MCRI also has almost 100 associates who use operational services. We are looking forward to our move early in 2002 to the new Administration and Communication Centre on the 9th floor of the main building.

Financial Services

Public Relations & Communications

Viren Abeyasinghe and a staff of six have had a

The PR team worked hard in 2001 to develop a strong

busy year as the operational budget grew to just

new corporate identity and culture, and successfully

over $30 million in line with the expansion of the

implemented policy guidelines relating to all

Institute. Particular achievements included the

communications and marketing. A highlight was the

streamlining of monthly income and expenditure

website redevelopment, which created a user-friendly

statements for Research Group Leaders and the

resource for all our stakeholders. A dramatic increase

establishment of infrastructure budgets. Fully

in media coverage was achieved in 2001, raising

computerised receipting and payment modules

community awareness and support - Narelle Curtis

were established through the accounting system to

worked closely with our Ambassador Sarah O'Hare to

allow for the expanded pathology services of

promote MCRI to a wider audience. Open Day

Genetic Health, in addition to an automated patient

successfully engaged the community in our research

billing and follow up system. These initiatives have

and the team also hosted countless dinners, lunches,

led to an increase in recovery of outstanding

seminars and tours for representatives of government,

accounts and improved the Institute's cash flow.

the media, foundations and private donors.

Grants Management

Human Resources & Industrial Relations

Julia Malone plays a vital role in our strategy to enhance

Particular achievements of an extremely busy year

and maximise the success of all grant applications.

(130 new staff were added to the MCRI payroll)

During the year, she helped establish a mentor system

included the implementation of a new staff

for peer review of grants prior to submission to external

Orientation Program and the introduction of an

granting bodies. This was instrumental in the excellent

intranet service for the submission of standard HR

results obtained in competing for NHMRC grants.

and Payroll forms electronically. Staff welcomed the

Another new initiative in 2001 was the introduction of

establishment of a Gender Equity Committee,

the COS Funding Opportunities Database, providing

coordinated by Human Resources Officer Nicki Carr,

information on grants worldwide.

which developed a questionnaire to ascertain staff needs and assist in the formulation of future policies.

Chief Operating Officer Ms Anne Cronin cronin@cryptic.rch.ijnimelb.edu.au

ANNUAL

REPORT

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a.

b.

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Information Technology

Design Services

The twin highlights of the year were the launch of

Our design team had another busy year preparing

our new internet web site, an important interface

posters and presentations for scientific meetings.

to the community, and our intranet which delivers

They helped to develop the new, well-received

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many important services to staff. These services

corporate identity for Genetic Health Services

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include online journal access, an internal contact

Victoria, and produced very effective public displays

database, order forms online to the purchasing

for the MCRI Open Day.

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department and grant application forms. As the

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Institute

has

expanded,

we

have

needed

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Support Services

substantive reorganisation of research groupings on

Demand for Tissue Culture Laboratory services

the MCRI servers, and expansion of our computer

continued to rise, as many researchers moved

hardware and software register. During the year, a

increasingly to the use of cell cultures in their

strategy for implementing this

projects. Plans for expansion should reduce the

project was

developed and the process commenced.

great strain on these facilities. Our team of 12 technical assistants provided essential support to

Building & Scientific Services

the research undertaken in the Institute in 2001.

The establishment during the year of a Purchasing and Evaluation Committee, with membership from all research groups, has added efficiencies to the process and assisted in getting better deals from 3- Viren Abeyasinghe - Finance Manager

suppliers. Also added to the services available to

A Julia Malone - Grants Officer

staff through the Intranet was a Chemical Register

Dr Narelle Curtis - Public Relations Manager d- Nicki Carr - Human Resources Manager f.

with a risk assessment profile. Two major building redevelopment projects were initiated during

Dr George Teng - Information Technology

the

Barry Holt - Building & Development Manager

Communications Centre and refurbishment of the

9- Kylie Morrell - Executive Assistant

year

-

the

MCRI

Administration

and

Animal Laboratory.

ANNUAL REPORT 200 1

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Staff List Director

Des Baker - Help Desk Officer

Professor Robert Williamson FRS FAA

Annette Jarry - Technical Assistant

Yvonne Bonomo - PhD Scholar

Matthew Newman - Technical Assistant

Melissa O'Shea - DPsych Scholar

Bioinformatics

Shane Osterfield - Technical Assistant

Cate Beardsley - DPsych Scholar

Dr Katrina Bell - Bioinformatics Officer

Josephine Perez - Technical Assistant

Jennifer Nazareth - PA to Director

Anne Cronin

Human Resources

Adolescent Health

Charmaine Sambathkumar - Administration Officer

Nicki Carr - Human Resources Officer

Professor George Patton - Director

Associate Directors

Debbie Zombolas - Payroll Manager

/VProfessor Susan Sawyer - Deputy Director

Allied Health & Nursing Research

Professor John Bateman - Laboratory Research

Sandra Nield - Payroll Officer

Dr Lyndal Bond - Group Leader

/VProfessor Linda Johnston - Group Leader

Marie-Antoinette van Lunenburg - Payroll Officer

/VProfessor John Toumbourou - Research Fellow

/VProfessor Mary Galea - Senior Researcher

Dr Joanne Williams - Research Fellow

Evelyn Volders - Senior Researcher

Chief Operating Officer/ Associate Director, Operations

Professor John Hutson- Clinical Research Professor H Kerr Graham - Clinical Research Professor George Patton - Public Health Research Professor Frank Oberklaid - Public Health Research Professor Terry Nolan - Public Health Research Professor Andy Choo - Strategy

Professor Alun Jackson - Senior Researcher

Building and Scientific Services

Carolyn Coffey - Senior Research Officer

Helen Shoemark - Senior Researcher

Barry Holt - Building and Development Manager

Dr Lena Sanci - Postdoctoral Fellow

Christine Imms - Senior Researcher

Dr Craig Olsson - Senior Research Officer

Jane Miller - Senior Researcher

Andrew Grimes - Technical Services Manager

Helen Butler - Senior Research Officer

Dr Jane Redden-Hoare - Senior Lecturer

Marisa Fielding - Senior Purchasing Officer/ OH&S Manager

Dr Max Watson - Research Officer

Ally Hutchinson - PhD Scholar

Dr Tracy Evans-Whipp - Research Officer

Beverley Eldridge - PhD Scholar

Dr Elizabeth Gregg - Research Officer

Denise Harrison - Masters Scholar

Finance

Administrative Support

Ian Williams - Research Officer

Bev Copnell - Research Assistant

Viren Abeyasinghe - Finance Manager

Kylie Morrell - Executive Assistant to Director

Cathy Bauld - Research Assistant

Kate Enderby - Research Assistant

Danielle Di Carlo - Accountant

Colleen King - Personal Assistant to COO

Celia Godfrey - Research Assistant

Karen Fitzgerald - Research Assistant

Areta Smith - Accountant

Megan Callanan - Personal Assistant to COO

John Hargreaves - Research Assistant

Nadine Cameron - Research Assistant

Rebecca Harford - Accounts

Shirley D'Cruz - Personal Assistant to AD

Angela Hassett - Research Assistant

Christine Keenan - Patient Accounts

Rachael Lorkin - Administrative Assistant

Sian Lloyd - Research Assistant

Anaesthesia and Pain Management

Neofita Hajigeorgi - Patient Accounts

Vicki Hirt - Receptionist

Karen Rowland - Research Assistant

Dr Chris Bolton - Group Leader

Fiona Keltie - Receptionist

Jackie Clements - Research Assistant

Dr Rob Eyres - Director Anaesthesia

Yuksei Effendi - Research Assistant

Dr Kester Brown - Anaesthetist

Public Relations Dr Narelle Curtis - Public Relations Manager

Graphic Design

Mary Dimovski - Research Assistant

Dr George Chalkiadis - Anaesthetist

Deborah Bugiera - Communications Officer

Voula Boukouvalas - Graphic Designer

Peta Butterfield - Research Assistant

Dr Andrew Davidson - Anaesthetist

Dr Helen Byers - Communications Assistant

Michele Winsor - Photographer/Graphic Artist

Lyndal Thomas - Research Assistant

Dr Geoff Frawley - Anaesthetist

Eileen Cini - Research Assistant

Dr Jeanette Low - Anaesthetist

Grants

Research Support

Sarah Wolfe - Project Manager

Dr Ian McKenzie - Anaesthetist

Julia Malone - Grants Officer

Marjorie Crawford - Technical Officer

Sandy Cahir - Project Officer

Dr Philip Ragg - Anaesthetist

Magdy Sourial - Technical Officer

Peter Roberts - Project Officer

Dr Rod Westhorpe - Anaesthetist

Information Technology

Julianne Aloe - Technical Assistant

Asthma, Allergy and Immune Disorders

George Teng - Manager

Roseanna Bhagwandas - Technical Assistant

Deirdre Gartland - PhD Scholar/Research Assistant

Joe Nuchthapho - Network Officer

Blanche Dekker - Technical Assistant

Jenny Proimos - PhD Scholar

Professor Andrew Kemp - Group Leader

Shilpa Shah - Support Officer

Dino Disint - Technical Assistant

Michele Yeo - PhD Scholar

Dr Mimi Tang - Group Leader

Jason Elliott - Web Administrator

Karen Howden - Technical Assistant

Stephanie Jones - PhD Scholar

Dr David Hill - Group Leader

ANNUAL

REPORT

200 1

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Dr Matthew Burton - Postdoctoral Fellow Dr Joanne Smart - PhD Scholar Ross McKenzie - PhD Scholar Susie Ymer - Research Assistant Cancer Genomics A/Professor Deon Venter - Group Leader Dr Natalia Yarovaya - Postdoctoral Fellow Toula Bouras - PhD Scholar Gareth Price - Research Assistant Rachael Williams - Research Assistant Alexis Mahoney - Research Assistant Michelle Kirchner - Research Assistant Tiffany Cowie - Research Assistant John Ciciulla - Research Assistant Cancer Research A/Professor M David Ashley - Group Leader Professor Peter Smith - Group Leader Dr Elizabeth Algar - Research Fellow Dr Christine Hawkins - Research Fellow Dr Denise Caruso - Research Fellow Dr Ngaire Elwood - Research Fellow Dr Karin Tiedemann - Head BM Transplant program Dr Simon Bol - Senior Research Officer Dianne Tucker - Senior Medical Scientist Kerrie Jones - Medical Scientist Dr Shehnaaz Manji - Postdoctoral Fellow Melissa Knight - PhD Scholar Anissa Jabbour - PhD Scholar Timothy Hassel - MD Student Christopher Riffkin - Senior Research Assistant Dr Manuela Hancock - Senior Research Assistant Jeanette Ripper - Senior Research Assistant Susan Dickie - Senior Research Assistant Andrea Muscat -Research Assistant Alana Gardiner - Research Assistant

Tracey Lomas - Research Assistant Anna Carison - Research Assistant Fiona Sheilds - Research Nurse Cardiology Dr Dan Penny - Group Leader A/Professor Sam Menahem - Cardiologist Dr Robert Weintraub - Cardiologist Dr Jim Wilkinson - Cardiologist Dr Andrew Davis - Cardiologist Dr TH Goh - Cardiologist Dr Lara Shekerdemian - Cardiac Intensivist Cell and Gene Therapy A/Professor Panos loannou - Group Leader Dr Jim Vadolas - Postdoctoral Fellow Dr Karin Sitte - Postdoctoral Fellow Dr Mikhail Nefedov - Postdoctoral Fellow Dr Joseph Sarsero - Postdoctoral Fellow Dr Katie Allen - Postdoctoral Fellow Dr Louise Wangerek - Postdoctoral Fellow Dr Katarina Ejeskar - Visiting Postdoctoral Fellow Faten Zaibak - PhD Scholar Dr Heidi Peters - PhD Scholar Samuel McLenachan - PhD Scholar Duangporn Jamsai - Visiting PhD Scholar Wah Lee Lai - Advanced Medical Science Student Michelle Lee - Advanced Medial Science Student Stephanie Lammel - Visiting Student Richard deBoer - Visiting Student Daphne Cheah - Research Assistant Tim Holloway - Research Assistant Lingli LI - Research Assistant Hady Wardan - Research Assistant Adele Gibbs - Technical Assistant

Cell and Matrix Biology Professor John Bateman - Group Leader Dr Amanda Fosang - Research Fellow Dr Shireen Lamand^ - Senior Research Officer Dr Jamie Fitzgerald - Senior Research Officer Dr Richard Wilson - Research Officer Dr Fleather Stanton - Postdoctoral Fellow Dr Daniele Belluoccio - Postdoctoral Fellow Christopher Poon - PhD Scholar Kylie Patterson - PhD Scholar Naomi Baker - PhD Scholar Justin Allen - PhD Scholar Irma Gresshoff - PhD Scholar Susanna Freddi - Research Assistant Sue Golub - Research Assistant Karena Last - Research Assistant Robyn McNeil - Research Assistant Naomi Barratt - Research Assistant Sharon Rudd - Research Assistant Hulling He - Research Assistant Child Development & Rehabilitation Dr Dinah Reddihough - Director Dr Catherine Marraffa - Deputy Director Dr Christine Olesch - Clinical PhD Scholar Dr Gordon Baikie - Paediatrician Dr Enver Bajraszewski - Paediatrician Dr Bronwyn Catheis - Paediatrician Dr Doug Bryan - Paediatrician Dr Margaret Rowell - Paediatrician Dr Kevin Dunne - Paediatrician Dr Kevin Collins - Neurologist Mala Desai - Research Dentist Elizabeth Ferguson - Research Speech Pathologist Catherine Hazard - Research Nurse Dr Anne Rickards - Research Psychologist Rosiyn Wright-Rossi - Research Early Intervention Teacher Janet Hutchinson - Research Coordinator

Hilary Johnson - Research Speech Pathologist Jane King - Research Assistant Vicki Petrou - Research Assistant Janet Walstab - Research Assistant Anna Lanigan - Research Assistant Sue Reid - Research Assistant Chromosome Research Professor Andy Choo - Group Leader Dr Jeff Craig - Senior Research Officer Dr Paul Kalitsis - Senior Research Officer Dr Richard Saffery - Senior Research Officer Liz Earle - Scientific Officer Dr Kerry Fowler - Scientific Officer Dr Lee Hwa Wong - Postdoctoral Fellow Dr Jo Perry - Postdoctoral Fellow Dr Karen Bentley - Postdoctoral Fellow Dr Michael Theophilos - Postdoctoral Fellow Dr David Amor - PhD Scholar Sarah Chan - PhD Scholar Sara Hassan - PhD Scholar Dr Alka Saxena - PhD Scholar Huseyin Sumer - PhD Scholar Danielle Irvine - PhD Scholar Melissa Bateman - Research Assistant Belinda Griffiths - Research Assistant Mandy Sibson -Research Assistant Angela Stafford - Research Assistant

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Qinical Epidemiology and Biostatistics Unit Professor John Carlin - Director Dr Sue Skull - Deputy Director Dr Ruth Morley - Senior Research Fellow Dr Stephen Lambert - Senior Research Fellow/ PhD Scholar Dr Margaret De Campo - Senior Research Fellow Professor Terry Nolan - Honorary Professorial Fellow Dr Rory Wolfe - Honorary Research Fellow Jacinta O'Sullivan - Study Coordinator

ANNUAL REPORT 2001

19


Suzanna Vidmar - Research Assistant Ning Li - Research Assistant Susan Rogers - Research Assistant Gabrielle Davie - Research Assistant Janina Chapman - Research Assistant Ethna Macken - Research Assistant Noreen Condon - Research Assistant Susan King - Research Assistant Susie Proctor - Research Assistant Liz McGrath - Research Assistant Nyree Pyper - Research Assistant Jan Renehan - Research Assistant Pamela Sinclair - Research Assistant Eleanor Richards - Research Assistant Betty Lim - Research Assistant Samantha Colquhoun - Research Assistant Bernadette McCudden - Research Assistant Jane Nelson - Research Assistant Lee Anne Rothwell - Research Assistant Susie Flopkins - Research Assistant Dale Cooper - Research Assistant Kathleen Lanigan - Research Assistant Loraine Kelpie - Research Assistant Deborah Saunders - Research Assistant Evangeline Valdecantos - Research Assistant Barbara Webb - Research Assistant Dr Yoland Arduca - Research Medical Officer Dr Dianne Brown - Research Medical Officer Dr Thomas Lew - Research Medical Officer Dr Derrick Sim - Research Medical Officer Dr Annette Webb - Research Medical Officer Dr Nicole Rose - Research Medical Officer Dr Jennifer Anderson - Research Medical Officer Dr Shane O'Dea - Research Medical Officer Dr Glenn Howlett - Research Medical Officer Dr Claire Mauer - Research Medical Officer Dr Phil Floffman - Research Medical Officer Dr Loretta Thorn - Research Medical Officer Lyndal Thomas - PhD Scholar Sandra Dickin - Personal Assistant to Director

Community Child Health Professor Frank Oberklaid - Centre Director Dr Melissa Wake - Research Director Dr Elizabeth Waters - Research Director Dr Joanne Williams - Senior Research Fellow Julie Green - Senior Research Officer Dr Anjali Flaikerwal - Research Officer Dr Sharon Goldfeld - PhD Scholar Dr Zoe McCallum - PhD Scholar Kylie Flesketh - PhD Scholar Dr Katie Fleathershaw - MD Scholar Dr Flarriet Fliscock - MD Scholar Jodie Doyle - Field Administrator Kerry Flaynes - Project Officer Jodie Sneddon- Project Officer Susie Flopkins - Research Assistant Naomi Douglas - Research Assistant Melinda Barker - Research Assistant Christa Carey - Research Assistant Susan Gallagher - Research Assistant Bibi Gerner - Research Assistant Zeffie Poulakis - Research Assistant Louisa Salmon - Research Assistant Naomi Paine - Research Assistant Dr Claire Flarris - GP Liaison Director Dr Frederick C Jarman - Research & Education Dr Martin Wright - Paediatrician Craniofacial Sciences Professor Sheena Reilly - Principal Research Fellow Dr Peter Farlie - Senior Postdoctoral Fellow Dr Nicky Kilpatrick - Clinical Research Fellow Caroline Howarth - Masters Student Vanessa Wiliiam - Masters Student Hilary Dent - PhD Scholar Michelle Hermonn - PhD Scholar Julie Reid - PhD Scholar Sue Debney - PhD Scholar

A/Professor Linda Vallino-Napoli - Visiting Research Fellow Dr Debbie Sell - Visiting Fellow Dermal Therapeutics Dr Christopher Wraight - Group Leader Dr Stephanie Edmondson - Postdoctoral Fellow Rhys Fogarty - Research Assistant Susan Thumiger - Research Assistant Professor George Werther - Senior Investigator Dr Paul White - Senior Research Associate Disease Models Dr Kerry Fowler - Group Leader Sophie Gazeas - Technical Officer Anick Sylvain - Technical Assistant Carly Turner - Technical Assistant Julia Broughton - Technical Assistant Nicole Kerr - Technical Assistant Karen Swift - Technical Associate Scott De La Rue - Technical Associate Early Determinants of Health Dr Ruth Morley - Group Leader Jodie Bond - Dietitian Paula Nash - Dietitian Priya Duggal - Research Assistant Noreen Condon - Research Nurse Maggie Flood - Research Midwife Elisabeth Moloney - Research Midwife Janet White - Research Midwife Mary Cook - Psychologist Embryology Dr Donald Newgreen - Group Leader Joseph Minichiello - Research Assistant Gullveig Reed - Research Assistant Natalie Jones - PhD Scholar

Dr Damien Bates - PhD Scholar Samara Lewis - PhD Scholar Justine Peeters - PhD Scholar Sonja McKeown - PhD Scholar Enteric Viruses Professor Graeme Barnes - Senior Principal Research Fellow Professor Ruth Bishop - Senior Principal Research Fellow Dr Carl Kirkwood - Research Fellow Flelen Bugg - Research Assistant Paul Masendycz - Research Assistant Ruth Clark - Technical Assistant Nada Bogdanovic-Sakran - Technical Assistant Ethics Professor Julian Savulescu - Director Dr Lynn Gillam - Postdoctoral Fellow Dr David McCarthy - Postdoctoral Fellow Jan Flodgson - PhD Scholar Ainsley Newson - PhD Scholar Rony Duncan - Honours Student Melanie Hemsiey - UROP Student Merle Spriggs - Administration/Research Assistant Mary Rillstone - Project Coordinator/Research Assistant Jacqueline Doughty - Administrative Assistant Gastroenterology & Clinical Nutrition Dr Anthony Catto-Smith - Group Leader Dr Arnold Smith - Head Gastroenterology Professor Graeme Barnes - Senior Principal Research Fellow Dr Julie Bines - Head Clinical Nutrition Professor Ruth Bishop - Senior Principal Research Fellow Dr Donald Cameron - Gastroenterologist Dr Ralf Heine Gastroenterologist

ANNUAL REPORT 2001

20


Dr Katie Allen - PhD Scholar

Melanie Knight - PhD Scholar/Research Assistant

Dr Mark Harris - Research Fellow/ Endocrinologist

Brian Muller - Research Assistant

Dr George Alex - PhD Scholar Dr Omar Sadaah - Postdoctoral Fellow

Libby Fitzpatrick - Research Assistant

Dr Phillip Bergman - Clinical Research Fellow

Andrea Bigham - PhD Scholar

Dr Anshu Srivastava - Postdoctoral Fellow

Tanya Hatzistavrou - Research Assistant

Dr Elizabeth Northam - Neuropsychologist

Travis Gooding - PhD Scholar

Dr Ka Ming Cheung - Postdoctoral Fellow

Dr Jack Green - MD Scholar

Dr Vincenzo Russo - Research Officer

Larissa Nicholls - PhD Scholar

Nopaorn Phavichitr - Postdoctoral Fellow

Sean Chung - DROP Student

Dr Karen Greenland - Research Officer

Dr Mike Starr - PhD Scholar

Dr Sanguansak Rerksuppaphol - Postdoctoral Fellow

Elizabeth Murchison - DROP Student

Emma White - Research Nurse

Marija Tauschek - PhD Scholar

Tanya O'Byrne - Research Nurse

Louise Taylor - PhD Scholar

Eva Nagy - PhD Scholar

Gene Identification and Expression

Debbie Boyce - Research Nurse

Sharon Tennant - PhD Scholar

Helen Bugg - Research Assistant

/VProfessor Henrik Dahl - Group Leader

Anne Reilly - Research Nurse

Catherine Satzke - PhD Scholar

Fran Justice - Research Assistant

Dr Kirby Siemering - Postdoctoral Fellow

Sue Kantor - Radiographer

Sarah List - PhD Scholar

Paul Masendycz - Research Assistant

Dr Tuomas Klockars - Postdoctoral Fellow

Elizabeth Loughlin - Social Worker

Danielle Marazzato - PhD Scholar

Diane Simpson Nurse - Coordinator/Research Assistant

Dr Sharon Lewis - Helen M. Schutt Trust Fellow

Heather Gilbertson - Dietician

Chris Vassos - Honours Student

Dr Michelle de Silva - Helen M. Schutt Postdoctoral Fellow

David Cossens - PhD Scholar

Lynn Crellin Nurse - Coordinator/Research Assistant

Georgia Giannakis - PhD Scholar

Rosemary Alysandratos - Research Assistant

>j

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Mitochondrial Research

Wendy Hutchison - Scientific Officer

Jenifer Wong - PhD Scholar

Dr David Thorburn - Group Leader

Maria Kamarinos - PhD Scholar

Dr Sylvia Lim-tio - Research Fellow

Dr Renato Salemi - Postdoctoral Fellow

Nada Bogdanovic-Sakran - Technical Assistant

Louise Wangerek - PhD Scholar

Mary Rillstone - Clinical Research Assistant

Denise Kirby - Research Officer/ PhD Scholar

Helen Shalley - Nutrition Nurse Coordinator

Amelia Osborn - Research Assistant

Lakana Kanjankul - Clinical Fellow

Ayan Dasvarma - PhD Scholar

Anne Peace - Departmental Secretary

Kerry Fenwick - Research Assistant Jakub Chojnacki - Honours Student

Dr Shankar Kanumakala - Clinical Endocrine Fellow

Voula Mitsakos - PhD Scholar

Jane Lee - Research Secretary

Therese Kelly - Audiologist

Dr Kisho Kobayashi - Research Fellow

Ruth Clark - Technical Assistant

Genetic Education

Emmanuele Haquet - Visiting Student

Dr Sylvia Metcalfe - Director Education

Erin Oldaker - Research Assistant Ellie Kuhne - Research Assistant Taryn Charles - Research Assistant

International Child Health

Joanne McKie - Technical Assistant

Dr MaryAnne Aitken - Senior Education Officer

Gut Motility

Professor Kim Mulholland - Group Leader

Dr Bridget Southwell - Group Leader

Fiona Cunningham - Senior Education Officer

Dr Michael Stanton- PhD Scholar

Dr Jonathan Carapetis - Senior Medical Researcher

Victoria Hill - Masters Student

Clare Delaney - Technical Assistant

Dr Trevor Duke - Senior Medical Researcher

Dr Craig Smith - NHMRC RD Wright Fellow

Eilis Hughes - Masters Student/ Education Assistant

Madeleine Stephens- Research Assistant

Dr Fiona Russell - Senior Medical Researcher

Dr Helen Wilmore - Postdoctoral Fellow

Lydia Gaffney - Education Assistant

Hormone Research

Microbiology & Infectious Diseases

Dr Katrina Bell - Postdoctoral Fellow

Alexandra Gason - PhD Scholar

Professor Roy Robins-Browne - Group Leader

Dr Bronwyn Morrish - Postdoctoral Fellow

Angela Wallace - Education Officer

Professor George Werther - Principal Research Fellow

A/Professor Paul Johnson - Research Fellow

Kirsty Reed - PhD Scholar

Gene Discovery

/VProfessor Garry Warne - Senior Research Fellow

Dr Susan Forrest - Group Leader

Molecular Development A/Professor Andrew Sinclair - Group Leader

Dr Peter McClive - Postdoctoral Fellow

Dr Michael Lynch - Group Leader

/VProfessor Leon Bach - Principal Research Fellow

Dr Kate Elliott - Postdoctoral Fellow Dr Michelle de Silva - Postdoctoral Fellow Dr Craig Olsson - Postdoctoral Fellow

Dr Angela Joe - Research Officer

Mai Sarraj - PhD Scholar

Dr Keith Al-Hasani - Postdoctoral Fellow

Tanya Hurley - PhD Scholar

Louise Adams - Research Assistant

Quanah Hudson - PhD Scholar

Vicki Bennett-Wood - Research Assistant

Jocelyn van den Bergen - Honours Student

Professor Jeffrey Zajac - Principal Research Fellow

Rebecca Gorreli - Research Assistant

Melissa Katz - Research Assistant

Dr Fergus Cameron - Endocrinologist

Frances Oppedisano - Research Assistant

Dr Margaret Zacharin - Endocrinologist

Gowri Selvaraj - Research Assistant

ANNUAL

REPORT

2001

21


Neonatal Care

Dr Sue Liew - Consultant Orthopaedic Surgeon

Kathleen Allen - Clinical Research Fellow

Scholar

Professor Colin Morley - Group Leader

Paulo Selber - Orthopaedic Fellow

Julie Barrington - Clinical Research Fellow

Carole Webley - Research Officer

Dr Peter Dargaviile - Senior Research Fellow

C Edward Bache - Orthopaedic Fellow

Dr Lesley Bretherton - Clinical Research Fellow

Dr Peter Davis -Senior Research Fellow

Rosemary Warren - Research Assistant

Roslyn Boyd - Senior Research Physiotherapist

Wendy Bunston - Clinical Research Fellow

Vicky Petrou - Research Officer

Dr Paul Ekert - Research Fellow

Fiona Dobson - Research Physiotherapist

Dr Brigid Jordan - Clinical Research Fellow

Dr John Mills - MD Scholar

Kerry Haynes - Research Officer

Beverley Eldridge - Research Physiotherapist

Marell Lynch - Clinical Research Fellow

Alice Jaques - Masters Student

Wendy Russell - Research Assistant

Adrienne Flarvey - Physiotherapist

Dr John Mathai - Clinical Research Fellow

Caroline Lavender - ACCV Scholarship Student

Nigel Keenan - Research Fellow

Dr Nicole Milburn - Clinical Research Fellow

Tiffany Symes - ACCV Scholarship Student Kate Mason - DROP Student

Neuroscience

Tam Nguyen - Biomedical Engineer

Maria McCarthy - Clinical Research Fellow

Dr Andrew Kornberg - Group Leader

Dr Christine Olesch - Clinical Research Fellow

Sue Morse - Clinical Research Fellow

Dr Simon Harvey - Group Leader

Jenny Parrott - Research Physiotherapist

Dr Rick Leventer - Group Leader

Marinis Pirpiris - Research Fellow

A/Professor Campbell Paul - Clinical Research Fellow

Dr Mark Mackay - Research Associate

Jill Rodda - Senior Clinical Physiotherapist

Dr Ruth Perkins - Clinical Research Fellow

Helen McCallum - PhD Scholar

Dr Ingrid Scheffer - Research Associate

Elise Cullis - Biomedical Engineer

Margaret Richardson - Clinical Research Fellow

Narelle Skinner - Research Assistant

Staph and Strep Dr Kumar Visvanathan - Group Leader

Profesor Sam Berkovic - Research Associate

Adrienne Fosang - Physiotherapist

Robyn Stargatt - Clinical Research Fellow

A/Professor Graeme Jackson - Research Associate

Ruth Wraith - Clinical Research Fellow

Surgical Research

Paediatric Drugs - APPRU

Jacquie Wrennall - Clinical Research Fellow

Dr Lloyd Shield - Senior Neurologist

Dr Noel Cranswick - Director

Dr Cathy Catroppa - Research Officer

Professor John Hutson - Director General Surgery

Mark Wellard - Senior Research Officer

A/Professor Mike South - Director

Dr Amanda Wood - Research Officer

Dr Suzanne Hasthorpe - Senior Research Fellow

Amanda Wood - Research Assistant

Dr Jonathan Akikusa - Fellow

Dr Stephen Wood - Research Officer

Dianne Anderson - Research Assistant

Lisa Watts - Research Assistant

Dr Alissa Urn - Clinical Research Fellow

Diana Smidts - Research AssistanVPhD Scholar

Pamela Farmer - Research Assistant

Jill Bicknell - Research Assistant

Susan Ziolkowski - Trials Manager

Rani Jacobs - Research Assistant/PhD Scholar

Maydalena Kita - Research Assistant

Dr Cathy Temelcous - Research Fellow

Jacqui Houston - Trials Coordinator Jennifer Waller - Trials Coordinator

Linda Pentland - Research Assistant/PhD Scholar

Dr Michael Stanton - Research Fellow

Kelly Steeper - Research Assistant

Nicole Davidson - Trials Coordinator

Angela Bourne - Research Assistant

Dr Yeon Myung Shin - Research Fellow

Tria Williams - Trial Recruitment Officer

Elisa Didus - Research Assistant

Suat Li Ng - AMS Student

Yvonne Tyl - Administrator

Rian Dob - Research Assistant

Pituitary Development and Disease

Vivienne Flowe - Research Assistant

A/Professor Terrie Inder- Group Leader

Dr Paul Thomas - Research Fellow

Wendy Kelso - Research Assistant

Jacqueline Inder - Executive Assistant to Group Leader

Orthopaedics - Hugh Williamson Gait Laboratory Professor H Kerr Graham - Group Leader Dr Richard Baker - Gait Analysis Service Manager

Flora Ffaritou - Research Assistant

Dr Hideki Tomyiama - Research Fellow

Victorian Infant Brain Study

Dr Ian Torode - Consultant Orthopaedic Surgeon

Dr Shelley Ross - Postdoctoral Fellow

Vanessa Mackay - Research Assistant

Dr Robert Dickens - Consultant Orthopaedic

Sherry Cook - Research Assistant

Jerome Mailer - Research Assistant

Merilyn Bear - Research Nurse

Surgeon

Nicola Solomon - PhD Scholar

Jennifer Neale - Research Assistant

Connie Wong - Research Nurse

Dr Gary Nattrass - Consultant Orthopaedic Surgeon

Heidi Newitt - Research Assistant

Nisha Menzies - Research Fellow

Psychological Development

Mia Rowe - Research Assistant

Vanessa Ellison - Clinical Fellow

Dr Mark O'Sullivan - Consultant Orthopaedic Surgeon

Professor Margot Prior - Group Leader

Georgina Swinburne - Research Assistant

Hong Wang - Imaging Technician

Dr Leo Donnan - Consultant Orthopaedic Surgeon

A/Professor Vicki Anderson - Senior Research Fellow

Dr Jane Halliday - Senior Research Fellow

Dr Ton Tran - Consultant Orthopaedic Surgeon

Dr Elisabeth Northam - Senior Research Fellow

Veronica Collins - Research Officer/PhD

Peter Anderson - Research Coordinator Public Health and Genetics

ANNUAL

REPORT

2001

22


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Year in Review Some of the research achievements, awards, funding successes and special events we enjoyed during the year 2001:

made significant advances, leading to 12 major

children with cerebral palsy, generating great media

papers and a new patent

interest including a front page story in The Australian

• Commercialisation of our research was a focus -

prestigious Churchill Scholarship

four new patents were filed during 2001 • We almost doubled our research grant income

of the Australian Open 2001 Charitable Fund

• More than 400 peer-reviewed papers were

• Proceeds from the Shelley Beach Tennis Classic, driven by dedicated committee MI7, helped fund

• We received over $46,000 from Tennis Australia for the donations we collected as the beneficiary

to $16 million published by MCRI researchers in international journals

• Daphne Cheah (Liver Cell Bank) was awarded a

• Supporting development of our 'gene cream' for psoriasis, biotechnology company Antisense

• International interest was sparked by Centre for

Therapeutics Limited (ATL) was successfully

Adolescent Health research linking teenage

floated on the ASX

depression to school bullying, published in the British Medical Journal

new equipment for our Cancer Genomics team • We continued to make a substantial contribution • Our Director Bob Williamson was honoured by election to the Australian Academy of Science in March

to education, with more than 100 honours and

• Secondary students from across Australia voiced their opinions on gene therapy through our

postgraduate students

annual Genethics Competition • Governor of Victoria John Landy AC MBE visited

• Adolescent

health

researchers

received

a

the MCRI during National Diabetes Week in his

VicHealth Award for Excellence in health

new role as patron of the Centre for Hormone

promoting research for their Gatehouse Project • Christopher Wraight and

Bank to over $100,000 by staging a variety show

George Werther

secondary students

(Hormone Research) won a $500,000 grant to study diabetes complications

• Harriet Hiscock (Community Child Health) won the Young Investigator Award from the Royal

reminiscent of the last century • Gait laboratory researchers published a series of • Our world-leading research into human artificial

researcher Tom Shakespeare presented a debate on genetic testing and choice with an audience of

Research • Rotary Clubs brought their total for our Liver Cell

• Bob Williamson and international sociology

journal articles on the use of Botulinum toxin in

Australasian College of Physicians,

for her

outstanding research

chromosomes for the treatment of genetic disease

Communications Officer Deborah Bugiera bugierad@murdoch.rch.unimelb.edu.au

ANNUAL

REPORT

2001

24


• We hosted the International Symposium on

• David Thorburn (Mitochondrial Research) was

Hearing Impairment, which was opened by

promoted to NHMRC Senior Research Fellow • Our Ambassador Sarah O'Hare made an eloquent

Victorian Health Minister John Thwaites • At the Great Australian Science Show our scientists engaged

enthusiastic

Zealand Society for Cell and Developmental Biology

• Generous Victorians donated $7.5 million through the

speech on stem cell research on the televised

Good Friday Appeal to the Royal Children's Hospital

Marie Claire What Women Want forum

primary and

secondary school students in our interactive display on genetics • Denise Kirby (Mitochondrial Research) was

• Health Minister John Thwaites announced an

• During Genetic Awareness Week, Health Minister

additional $100,000 funding for an expanded

John Thwaites launched Genetic Health Services

5^

newborn screening program that will help

Victoria for genetic diagnosis, counselling and

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prevent metabolic diseases

treatment services

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I

awarded the Jeff Crouch Memorial Scholarship • The YAFFA Ball hosted by Sarah O'Hare raised vital funds for Freidreich Ataxia research

• The Mandy Mizutani Foundation in Japan

• Redevelopment of the 9th floor commenced,

awarded $100,000 to Amanda Fosang (Cell &

with plans to include a large academic meeting

Matrix biology) for her arthritis research

area, library and the MCRI Administration and Communication offices

• Julian Savulescu (Ethics) provided expert comment

• We registered biotechnology startup company

for the major Austraiian daily newspapers on stem

SciBAC Pty Ltd to commercialise the research of

cells, cloning and IVF

our Cell and Gene Therapy research team

• New and old friends and supporters toured our facilities during Open Day in November

I £

awarded a World Health Organisation contract to evaluate the burden of vaccine-preventible

• MCRI was awarded

14 project grants, 4

diseases in Pacific Island Nations

fellowships, 3 career development awards and 5 research training awards by the National Health and Medical Research Council (NHMRC)

• Community Child

Health

researchers were

awarded $300,000 to trial a new strategy to reduce childhood obesity

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• Our International Child Health researchers were

• Andy Choo (Chromosome Research) was promoted to NHMRC Senior Principal Research Fellow and was

• Damien Bates received the Toshiya Yamada Early

also appointed full professor. University of Melbourne

Career Award presented by the Australian and New

ANNUAL REPORT 2001

25


Stem Cells Embryonic stem cells could revolutionise medicine. The problem is that a human embryo must be destroyed to produce these cells. Is it right that an embryo dies so that children and adults may live? There are three potential sources of embryos: • those created specifically for research by in vitro

A six to four majority recommended the production

Every cell - every skin, heart, lung, liver cell - has the

of embryonic stem cells from spare embryos. The

complete genetic code or blueprint (just like an

report recommended a ban on reproductive

embryo) to produce a human being. There is no

cloning, the creation of embryos specifically for

moral difference between a skin cell and a fertilised

research and a three year moratorium on

egg sitting in laboratory. Both could produce a baby

therapeutic cloning.

if very advanced technology were applied to them.

Several reasons were cited for supporting the

Since it is clearly acceptable to experiment on skin

production of embryonic stem cells from spare

cells, liver cells or muscle cells, researchers should

embryos. For example, that people with common

be able to experiment on embryos from any source.

serious illnesses were owed a responsibility, and that "one view of the moral status of the embryo

We must protect the lives of humans. While our

should not be imposed on society as a whole."

cells may be human, those cells (including embryos)

fertilisation (IVF) • those created for the treatment of infertility but are no longer required - "spare" embryos • those created by cloning (nuclear transfer) - often termed "therapeutic cloning"

are not humans. Other reasons included the fact that many thousands of surplus embryos already exist and would be destroyed, and because this research

What are embryonic stem cells?

would speed the prospect of gaining useful

• Disease, injury and age cause our cells to die

treatments for disease. In 1999, the House of Representatives requested

- we cannot replace them • Stem cells are an exception - scientists think they

that the Standing Committee on Legal and

I disagree. My belief is that it is ethical to produce

may be able to be used to replace damaged cells,

Constitutional Affairs, chaired by Kevin Andrews,

stem cells from any of the 3 sources. The fact is that

tissues or organs

report on the ethics of cloning and the creation of

early human embryos are not humans. We used to

embryonic stem cells from different sources. In

think that embryos were unique because they could

September 2001, the Committee released the

have a chance of developing into a baby. But with

report on embryonic stem cells.

the advent of the cloning technology that produced Dolly the sheep, we now know that every cell in our body has a chance of producing a baby.

Professor Julian Savulescu Director, Ethics savulesj@cryptic.rch.unimelb.edu.au

ANNUAL

REPORT

2001

26


I-

What is a human being and when does its life begin? We can answer this question by asking when does the life of a human being end? Death is defined as when the brain dies. The rest of the cells

Why human research cannot be locked in a cell Sydney Morning Herald, August 28 2001

Why stem cells are important?

Vital arguments for stem cell research The Daily Telegraph, August 16 2001

transplantation

1

1. There are not enough organs for

and organs of the body may continue to live for

Around 1/3 of children waiting for a heart

some time after the brain dies. But the person is

transplant die before one becomes available.

dead. That's why we can take living organs from brain dead people. The person is different to the

2. Rejection

cells or organs that make up his or her body.

There are also problems when a doctor puts an

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organ from one person into a different person. The If we die when our brain dies, then we begin to live

body tries to reject the organ which it sees as

when our brain begins to function. Embryos have

"foreign". Drugs are used to suppress the body's

no functional brain.

reaction to the foreign tissue. These drugs have

to

serious side effects. It may be possible to engineer Not everyone agrees with my view of the moral

tissue from embryonic stem cells so doctors don't

status of the embryo. But whatever our view, there

need to use these drugs.

is no good reason to oppose the creation of

■

IF

embryonic stem cells from spare embryos. Let's

3. New Treatments

remember that Victorian law requires destruction of

Most importantly, embryonic stem cells may allow

spare IVF embryos after 5 or 10 years. No one can

transplantation to be used to treat common

rationally prefer to see these cells flushed down a sink

diseases like heart attack, Alzheimer's Disease,

rather than go to potentially life saving research.

diabetes, Parkinson's Disease and stroke.

Some parents courageously choose to donate their

tissue. This scar holds the brain together but that

dead child's organs to help other people when that

part of the brain loses its function. It may be

child dies tragically. We rightfully admire their decision.

possible in the future for embryonic stem cells to

Couples undergoing IVF should also be able to donate

replace the damaged brain and other tissue.

After a

stroke, the dead part of the brain is replaced by scar

I

I

cells from their spare embryos to potentially life saving research, if they want to. The only moral step for the government is to allow research into embryonic stem cells from spare IVF embryos. ANNUAL REPORT 2001

27


Research Highlights HaemScreen

Mini Chromosomes Professor Andy Choo's laboratory holds international patents on human artificial chromosome (HAC) technology, which has enormous commercial potential and could save millions of lives through gene therapy.

Gene therapy is the treatment of disease by introducing corrective copies of genes, for example into cancer patients. HACs offer a promising approach for gene delivery into patients because there is theoretically no upper limit to the size of the gene to be incorporated. And using human DNAderived HACs, rather than viruses, as vectors should minimise the

risk of adverse

immunogenic

responses in the patients. Professor Choo's group succeeded in producing a series of linear HACs or minichromosomes

HaemScreen is a pilot genetic screening program for the preventable disorder lereditary hoemochromotosis, on iron overload disorder that affects about 1 in 300 Australians and can lead to organ damage, including heart and liver disease and even death.

by truncation of a chromosome 10 marker containing a human neocentromere (a fully functional centromere

The genetic test involves taking a brush sample of

that arises spontaneously). Minichromosomes made in

cells from inside the cheek, for DNA testing.

this way, demonstrate high stability in structure and transmission over generations.

Individuals found to be at Increased risk of developing haemochromatosis can then take action

Having a mini sized neocentromere-based HAC, not

to prevent the disease.

only facilitates the delivery of therapeutic genes into patient cells, but also allows full sequence

Giving blood a few times a year to reduce the iron

characterisation of the HAC to provide better-

accumulation can prevent development of serious

defined tools for future gene therapy. It can be

illness. This pilot program is targeting 18-35 year

proof read from end to end because it comes from

olds, because at this age intervention is very

a region of chromosome 10 that has been fully

effective.

sequenced by the Human Genome Project.

Public Relations Manager Dr Narelle Curtis ncurtis@murdoch.rch.unimelb.eclu.au

ANNUAL

REPORT

2001

28


childhood Obesity Reducing the prevalence of overweight and obesity among Australian children and adolescents through community based interventions^ is a key aim of Centre for Community Child Health researchers.

overweight in Victorian primary school children. More than forty GPs will be provided with education and upskilling in childhood obesity and behaviour change management. Heath promotion and education materials for

CO

families will also be developed and GPs will be

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trained In their use. The approach focuses on

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achievable family goals In nutritional intake,

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physical activity and sedentary behaviour.

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Other preventable symptoms of haemochromatosis

A longitudinal study of 1438 primary school

While childhood obesity is increasing at an alarming

Include diabetes, arthritis, impotence, chronic

children aged 5-10 years, revealed that 19% were

rate, our research shows many parents are not aware

fatigue and infertility. Due to the wide range of

overweight or obese. Three years later, 75% of the

or not concerned. The best way to help these kids

symptoms, people often don't realise they have the

overweight children were still overweight or had

may be to improve the lifestyle of the whole family.

disorder, or doctors fail to diagnose it.

become obese.

The pilot is being conducted in the workplace of

Overweight children will not simply grow out of It,

major Australian corporations, including National

In fact, children are twice as likely to move up a

Australia Bank, Telstra, ANZ, Woolworths and BHP.

weight category, than they are to move down. A

It will also assess the acceptability of population-

continuation of the study will evaluate the risk

based genetic testing.

factors involved in children becoming or staying overweight or obese.

The program is an MCRI and Genetic Health Services Victoria initiative involving counsellors,

The Centre Is also conducting a randomised,

educators, scientists, epidemiologists and ethicists.

controlled trial of a brief GP Intervention to reduce

ANNUAL

REPORT

2001

29


Research Highlights Premature Babies

Cerebral Palsy

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Cerebral Palsy is the most common physical disability in childhood, affecting 1 in 600 births. These children have problems with muscle control because part of the brain that governs movement is damaged.

A decade ago, babies born with a birth weight below 1500 grams often died. Recent advances in neonatal care have boosted the survival rate to 80 percent for babies as small as 500 grams and as young as 17 weeks premature.

Our research is directed to understanding the causes of cerebral palsy and to improving treatments to enhance movement, development and quality of life. Physiotherapists, biomedical engineers, occupational therapists,

orthotic

specialists,

surgeons

and

neonatalogists collaborate in this major research program. The team recently demonstrated their achievements at our community Open Day. Professor Kerr Graham and his team in the Gait Laboratory use botulinum toxin injections, combined with surgery and physiotherapy, to reduce spasms in

The cost of caring for these tiny babies is great as are

the legs, arms and hips. This gives the children much

the number of health problems the child must face.

more independence, allowing them to walk and do everyday things like eating and dressing.

.

Immature lungs are a major problem for premature babies. They often require ventilation after birth that can cause further damage. Our researchers aim to understand the changes occurring in fetal lungs during growth and development to improve outcomes and care. Many different and complex molecules are likely to be involved. We are evaluating the changes induced by cortisol L,

treatment used to help immature lungs develop.

ANNUAL REPORT 2001

30


Liver Cell Bank Up to half of premature babies will exhibit developmental disabilities and 5-15% will have major cerebral palsy. The absolute number with developmental disabilities continues to rise as the number of extremely low birth-weight survivors increases. We are studying brain development in premature babies, using MRI to examine brain structure and chemistry. The ultimate aim of this research is to reduce the educational and social Implications of neurological developmental disabilities resulting from premature birth.

Children suffering from liver disease today face a shortage of donor organs and a lifetime of drugs to prevent organ rejection. Our researchers are developing a promising alternate treatment that involves transfusing healthy human cells into diseased livers in order to rejuvenate the organ. The new procedure would eliminate most of the risks and expense of a whole organ transplant.

Daphne Cheah has been awarded a prestigious Churchill Scholarship to travel to Chicago and Pittsburgh in the USA to investigate the Liver Cell Banks being established there. She will be hosted in Chicago by our collaborators at the Chicago Children's Memorial - the world's first successful

X O X O X X

liver bank for children.

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With the help of many corporate and community groups, Rotary Clubs have provided critical funding and support in the incremental stages of the establishment of a bank to store frozen liver cells for transplantations. This Liver Cell Bank would operate like a blood bank by supplying hospitals all around Australia with healthy liver cells.

Dr Katie Allen w/ith Rotary Footscray President Roger Batrouney

ANNUAL

REPORT

2 00 1

31


Student Profiles

Jenny Proimos

Naomi Baker "Cutting edge research technologies and a strong postgraduate environment are the two biggest advantages of doing a PhD here"

The laboratory that I'm based in, is one of the world leaders in matrix biology and collagen research. My PhD project involves investigating the mutations in a protein (collagen type VI) that are responsible for a muscle disease that affects children from a young

"My PhD studies add a wonderful level of complexity to o rich, busy career os on adolescent health physician."

age (Bethlem myopathy). This disease progressively gets worse, affecting muscle strength and mobility.

Besides being a PhD student and part-time physician at the Centre for Adolescent Health, I am

Initially, I joined MCRI as a research assistant at the Centre for Hormone Research with a Bachelor of

As a PhD student I have close interaction with my

Applied Science degree from RMIT. It was that

supervisors, which is important for a successful

experience that inspired me to follow a career in

research experience. We also meet regularly with other

research, beginning with completion of my honours

students to discuss research and life as a student.

the

Economic

and

Social

determinants

of

Adolescent Health in Victoria. I am committed to the need for using evidence to

and PhD studies. I

also mother to a boisterous 3 year old. My PhD is on

I develop my research freely with other PhD students, and research assistants and postdoctoral fellows from my laboratory. They offer me different

drive Health Policy development. My path of paediatric training at the Royal Children's Hospital, and speciality training in Adolescent Medicine at

perspectives to my research.

ANNUAL REPORT 2001

32


? •!

to

o

I

o6

00'

Rony Duncan

z < at:

o

I

My thesis considered predictive genetic testing in Harvard during my Masters Degree in Public Health, has lead me to this interest. I thought doing a PhD would be a good way to gain expertise in this area. My study hypothesises that the social and economic

"My unique experience as an honours student in the MCRI Ethics Unit inspired me to come back and do a PhD!"

children. I reviewed current recommendations and empirical evidence about effects of testing children, then explored a philosophical account of wellbeing and how it could be incorporated into research that assesses outcomes of testing in children.

climates where young people live and go to school will influence depression, drug use and antisocial behaviour

As a genetics and psychology undergraduate

I developed a questionnaire to measure broad

rates, above and beyond the influence of individual risk

student with a keen interest in ethics and

conceptions of wellbeing and administered a pilot

philosophy, I had no idea where my Bachelor of

study to the families of two children who had

and protective factors for those behaviours.

Science degree from the University of Melbourne

undergone testing for bowel cancer. My experience

I hope this project will contribute to policies for the

would lead me. The Ethics Unit at MCRI has given

with MCRI will lead me to the Australasian Bioethics

mental and physical health of future generations of

me a rare opportunity that I thought impossible.

Association Conference in February 2002 to present

young people.

I am the first honours student from the Department

my findings.

I

of Paediatrics based outside a laboratory!

ANNUAL REPORT 2001

33


ii 1.

Biotechnology & Commercialisation We achieved several significant milestones in our strategy for the support of biotechnology initiatives and the commercialisation of research. hi

\

Antisense Therapeutics Limited

Board Initiatives

The listing of the IPO Antisense Therapeutics

The Board of Directors adopted a number of

2002, to provide a source of seed funding for early

Limited (ATL) in December was a satisfactory

initiatives as part of its policy of supporting the

biotechnology initiatives. As a member, MCRI has a

conclusion to the complex negotiations undertaken

future of biotechnology. These included a new IP

seat on the Biocomm board.

to assign the IP for antisense treatment of psoriasis

policy for MCRI, which allows for an equity share to

into ATL, and to obtain significant ongoing research

researchers in spin off companies and an employee

New Patents Filed

funding to take the therapy to the next stage.

share option plan.

• International patent for a novel method of

MCRI and the inventors. Professor George Werther

Biocomm International

and Dr Christopher Wraight, agree this was a most

In 2001, MCRI became a member of Biocomm

detecting mutations (Gene Identification group) • Australian Provisional Patent for a molecular

rewarding outcome for all concerned. George

International, a recently established government

marker of the behavioural disorder ADHD

Werther is the MCRI nominee on the Board of ATL.

supported biotechnology commercialisation vehicle.

(Gene Discovery group)

MCRI has taken up membership for two years.

• Australian Provisional Patent for a molecular

POSSUM Software

Biocomm services include assistance in the

marker which may be predictive of arthritis

During the year, the future of the syndrome

promotion

(Cell & Matrix Biology group)

diagnostic software product POSSUM was secured

assessment, assistance with IP management,

through a partnering agreement with the listed

development of business plans and licensing deals.

of

commercialisation,

project

• Australian Provisional Patent for a method for selection (Cell and Gene Therapy group)

software development company Adecel Limited. We are now confident that we will be able to deliver an

Most Victorian medical research institutes have

"internet-aware" POSSUM during 2002. First up

joined,

though will be the release of a network version that

Universities. It is anticipated that a capital pool in

will be available to both MAC and PC users.

the order of $15 million will be in place by March

Chief Operating Officer Ms Anne Cronin cronin@cryptic.rch.unimelb.edu.au

as

have

Monash

and

Melbourne

ANNUAL REPORT 2001

34


Grants & Awards External Grants Apex Foundation Susan Forrest

Commonwealth Dept of Health

Garnett Passe and Rodney Williams Memorial

Mizutani Foundation

and Aged Care

Foundation

Amanda Fosang

Graeme Barnes

Henrik Dahl

Cell and Matrix Biology Unit

Gastroenterology

Gene Expression

$99,000

$124,000

$66,634

Department of Human Services

GlaxoSmithKline

Karen Greenland

George Patton

Graeme Barnes/Julie Bines

Centre for Hormone Research

Centre for Adolescent Health

Gastroenterology

$10,000

$80,000

$73,000

Department of Health and Aged Care

Helen Macpherson Smith Trust

David Thorburn

Anthony Catto-Smith

Kathy Rowe

Mitochondrial Research

Gastroenterology

General Paediatrics

$60,000

< % <

$57,226

$30,000 Muscular Dystrophy Association USA

Z

Department of Human Services

Hugh D T Williamson Foundation

Panos loannou

< 0£.

Melissa Wake

Anne McCoy

Gene Therapy

O

Community Child Health

Physiotherapy

$50,000

$65,000

$10,000

Department of Human Services

Jack Brockhoff Foundation

Henrik Dahl

Frank Oberklaid

Dinah Reddihough

Gene Expression

Community Child Health

Child Development and Rehabilitation

$89,203

$25,000

$64,000

Department of Human Sen/ices

Juvenile Diabetes Foundation International

Melissa Wake

Jonathan Carapetis

David Thorburn

Community Child Health

Department of Paediatrics

Mitochondrial Research

$36,300

$50,000

$52,083 US

Eli Lilly Endocrinology Research Grant

Kidney Foundation

John Toumbourou

Programme

Elizabeth Algar

Centre for Adolescent Health

Paul Thomas

Haematology/Oncology

$271,626

Gene Discovery

$13,239

Gene Discovery $12,170 Australian Drug Foundation/DHS George Patton

Motor Neurone Disease Research Institute

Centre for Adolescent Health $36,000 Australian Health Management Group Lyndal Bond

Muscular Dystrophy Association USA

Centre for Adolescent Health $49,200 Besen Family Foundation Robyn Stargatt, Vivenne Howe Psychology -$11,000 Besen Family Foundation Martin Delatycki

Beyond Blue Lena Sand

Brockhoff Foundation Bob Williamson Murdoch Childrens Research Institute

°6

National Heart Foundation

Centre for Adolescent Health $70,613

Q

Muscular Dystrophy Association USA

Genetic Health Services Victoria $5,000

1/5

National Institutes of Health (USA)

$20,000

$45,000

Ophthalmic Research Institute of Australia LEW Carty Charitable Fund

Susan Carden

Environment Australia

Margaret Zacharin

Opthalmology

Elizabeth Waters

Centre for Hormone Research

$10,000

Community Child Health

$10,000

$83,542

ANNUAL

REPORT

2001

35


j'l

Fd'izer Ltd

Urological Society of Australia

William Buckland Foundation (ANZ)

Friederike Veit

John Mathai

Catherine Temelcos

Harriet Hiscock

Centre for Adolescent Health

MH Sky

General Surgery

Community Child Health

$78,000

$90,700

$55,000

$39,388

Pratt Foundation

VicHealth

Windermere Foundation

Centre for Adolescent Health

Joanne Smart

Melissa Wake

Anne McCoy

$57,640

Immunology

Community Child Health

Physiotherapy

$10,000

$105,000

$9,280

Ramaciottl Foundation

VicHealth

Winston Churchill Memorial Trust Fellowship

John Bateman

George Patton

Daphne Cheah

Cell and Matrix Biology Unit

Centre for Adolescent Health

Liver Cell Bank

George Patton

$15,000

$201,199

$15,000

Centre for Adolescent Health

Friederike Veit

George Werther Centre for Hormone Research

$135,000

$92,060

Rebecca Cooper Medical Research Foundation

VicHealth

John Bateman

John Toumbourou/George Patton

Cell and Matrix Biology

Centre for Adolescent Health

Sue Hasthorpe

$16,000

$120,000

Surgical Research

Rebecca Cooper Medical Research Foundation

VicHealth

Susan Forrest

Elizabeth Waters

John Hutson

Gene Discovery

Community Child Health

Surgical Research

$16,000

$120,000

$60,000

NHMRC Project Grants

Friederike Veit Centre for Adolescent Health

$117,500

$17,773 Susan Sawyer Centre for Adolescent Health $27,500 George Patton Centre for Adolescent Health

Royal College of Physicians

VicHealth

Panos loannou

Leane Gauld

George Patton

Gene Therapy

Respiratory Medicine

Centre for Adolescent Health

$25,000

$300,000 George Patton

NHMRC Medical Postgraduate

Smith Kline Beecham

VicHealth

Centre for Adolescent Health

Research Scholarships

Noel Cranswick and Les Sheffield

Elizabeth Waters

$265,000

Clinical Pharmacology

Community Child Health

$26,000

$89,298

$38,829

<

$85,000

Chris Barnes Dinah Reddihough

Haematology/Oncology

Child Development and Rehabilitation The Wellcome Trust

Victoria Trauma Foundation

Susan Forrest

Clara McCarthy

Gene Discovery

Emergency Medicine

Bridget Southwell

$166,500

$36,000

Surgical Research

$50,000

Heidi Peters Gene Therapy

$88,001

ANNUAL

REPORT

2001

36


Dora Lush Postgraduate Research Scholarship Melanie Knight Gene Discovery

Public Health Postgraduate

who also make a commitment to research. Graeme Barnes Gastroenterology

Research Scholarship Kylie Hesketh Community Child Health

Peter Dargaville Neonatology

Jenny Proimos Adolescent Health

Simon Harvey Neurology

Julie Reid Speech Pathology

John Hutson General Surgery

Robert Roseby Respiratory Medicine

Terrie Inder Neonatology

Lyndal Thomas Adolescent Health

John Massie Respiratory Medicine

Johanna Perry Chromosome Research

Paul Monagle Pathology Mimi Tang Immunology George Werther Centre for Hormone Research

MCRI Part-time Career Grants These grants provide part salary support for senior health professionals who are involved in clinical care of children, but

Sylvia Lim-Tio Centre for Hormone Research

Roslyn Boyd Orthopaedics Peter Davis Neonatology

Peter Doherty Research Training Feiiowship

Paul Ekert Neonatology

Andrew Kornberg Neurosciences $70,000

MCRI Project Grants Vicki Anderson Psychology $50,000 David Ashley Haematology/Oncology $25,000 Lyndal Bond Adolescent Health $40,000 Noel Cranswick Clinical Pharmaceuticals $26,000 Paddy Dewan General Surgery $30,000 Josie Duncan Occupational Therapy $10,000 Jamie Fitzgerald Cell and Matrix Biology $35,000

MCRI Postdoctoral Fellowships Carl Kirkwood Gastroenterology

Carl Kirkwood Gastroenterology $50,000

Kerry Haynes Centre for Community Child Health $10,000

Shireen Lamande Cell and Matrix Biology $40,000

CO

Q

<

John Massie Asthma, Allergy and Immunology $11,406

Z

<

Elizabeth Northam Psychology $55,000

O

Christine Olesch Child Development and Rehabilitation $30,000 Margot Prior Psychology $16,700 Dinah Reddihough Child Development and Rehabilitation $65,500 Sheena Reilly Speech Pathology $20,000 Roy Robins-Browne Microbiology and Infectious Diseases $65,000

ANNUAL REPORT 2001

37


I

1;

Dora Lush Postgraduate Research Scholarship Melanie Knight Gene Discovery

Public Health Postgraduate

who also make a commitment to research. Graeme Barnes Gastroenterology

Research Scholarship Kyiie Hesketh Community Child Health

Peter Dargaville Neonatology

Jenny Proimos Adolescent Health

Simon Harvey Neurology

Julie Reid Speech Pathology

John Hutson General Surgery

Robert Roseby Respiratory Medicine

Terrie Inder Neonatology

Lyndal Thomas Adolescent Health

John Massie Respiratory Medicine

Johanna Perry Chromosome Research

Paul Monagle Pathology Mimi Tang Immunology George Werther Centre for Hormone Research

MCRI Part-time Career Grants These grants provide part salary support for senior health professionals who are involved in clinical care of children, but

Sylvia Lim-Tio Centre for Hormone Research

Roslyn Boyd Orthopaedics Peter Davis Neonatology

Peter Doherty Research Training Fellowship

Paul Ekert Neonatology

Andrew Kornberg Neurosciences $70,000

MCRI Project Grants Vicki Anderson Psychology $50,000 David Ashley Haematology/Oncology $25,000 Lyndal Bond Adolescent Health $40,000 Noel Cranswick Clinical Pharmaceuticals $26,000 Paddy Dewan General Surgery $30,000 Josie Duncan Occupational Therapy $10,000 Jamie Fitzgerald Cell and Matrix Biology $35,000

MCRI Postdoctoral Fellowships Carl Kirkwood Gastroenterology

Carl Kirkwood Gastroenterology $50,000

Kerry Haynes Centre for Community Child Health $10,000

Shireen Lamande Cell and Matrix Biology $40,000

to Q

at

<

John Massie Asthma, Allergy and Immunology $11,406

CO

Z

< Qc:

Elizabeth Northam Psychology $55,000

O

Christine Olesch Child Development and Rehabilitation $30,000

1

Margot Prior Psychology $16,700 Dinah Reddihough Child Development and Rehabilitation $65,500 Sheena Reilly Speech Pathology $20,000 Roy Robins-Browne Microbiology and Infectious Diseases $65,000

ANNUAL REPORT 2001

37


I.

Craig Smith

D Reddihough, S Brennecke, K Graham, J

Zoe McCallum

Molecular Development Unit

Halliday, S Reilly

Community Child Health

$60,000

Victorian cerebral palsy project

Eva Nagy

$150,000 per annum for three years

Gastroenterology

Cell and Matrix Biology Unit

A Sinclair, G Warne, J Hutson, J Savulescu, S

Diana Smidts

$11,000

Metcalfe

Psychology

Heather Stanton

Disorders of sexual development Mimi Tang

$150,000 per annum for three years

Michelle Su-Ming Yeo Centre for Adolescent Health

Immunology $30,000

MCRI Trainee Research Paul Thomas Gene Discovery

Scholarships

$65,000 These scholarships enable recipients to Hi 11'

Melissa Wake Community Child Health

undertake full time research while

Denise Harrison Naomi Baker

Neonatology

Centre for Hormone Research Timothy Hassall

Centre for Hormone Research $80,000

George Alex Gastroenterology

enrolled for a post graduate degree.

$30,000 George Werther

MCRI Scholarships

Chris Bolton

Haematology and Oncology

Anaesthesia John Mills

MCRI Theme Grants

Margaret Danchin

Neonatology

Melbourne University Dept of Paediatrics

J Bateman, R Savarirayan

Beverly Eldridge

Bone dysplasia program

Gait Laboratory

$150,000 per annum for three years Jeremy Freeman H Slater, S Keeling, A Choo

Neurology

High resolution chromosome analysis using DNA microarray and CGH

Deidre Gartland

$150,000 per annum for three years

Centre for Adolescent Health

G Patton, S Forrest, C Olsson

Alissa Lim

Genetic and environmental determinants of

General Paediatrics

psychosocial disorders in youth $150,000 per annum for three years

\ ANNUAL

REPORT

2001

38


Clinical Epidemiology & Biostatistics Unit

Early Determinants of Health

ii''. OiJf |r!ifidry mission I# ■H is to provide a resource t^^|p|||H|

Our research examines whether modifiable factors during pregnancy or infancy, particularly maternal and infant nutrition, have a long term or even permanent effect on the health, brain development and well-being of children.

TO

continued, as well as his involvement in

resedrch methods and biostatistical analysis.

several clinical research studies, WHO projects and large community studies. Diagnosis of pneumonia

As part of this, we provide an active

CEBU has performed critical statistical

.M

m

program of education, development

analysis for a

and training in research methods.

collaboration on the calibration and

CEBU also conducts and collaborates

standardisation of the reading of chest

in public health research that aims to

x-rays for the diagnosis of pneumonia.

develop and strengthen strategies for

This WHO project is of immense

the prevention of illness and injury

importance for several planned studies

unravel the roles of maternal nutrition

among children and adolescents.

of new pneumococcal vaccines.

and each baby's placental supply line

large

international

M Twin studies Twins provide a unique opportunity to

as determinants of their birth weight, Research overview

Community vaccine trials

Although Professor Terry Nolan left

An extensive program of studies continued,

CEBU to head the University of

in conjunction with industry partners.

Melbourne's new School of Population

Studies involved a new combination vaccine

Health, his extensive program of clinical

that incorporates chicken pox immunisation

trials of new vaccines has continued.

with MMR, and intranasal administration of

Dr Sue Skull joined us as Deputy

influenza vaccine - a technology that could

Director and is building a research

revolutionise the administration of vaccines.

health and development. Current studies include 200 pregnant women and their twin infants in Melbourne and Adelaide, and 160 pairs of 8 year old twins in Tasmania. Major collaborators • Menzies Centre, Hobart • Department of Physiology, Monash

program relating to immigrant health and vaccine-preventable diseases. John

Major collaborators

Carlin's research into new methods of

• Centre for Adolescent Health

analysis for studies with missing data

• World Health Organisation (WHO)

Group Leader Professor John Carlin jbcarlin@unimelb.edu.au

University • Janet McCalman, History and Philosophy of Science

Group Leader Dr Ruth Morley morleyr@cryptic.rch.unimelb.edu.au

ANNUAL

REPORT

2001

40


Community Child Health

I

Obesity, injury, delayed language, behavioural, respiratory and oral health problems impose the greatest burden and contribute to increasing child health inequalities. Our research focuses on description, systematic reviews of the evidence-base, prevention (addressing behaviours, lifestyles, social and environmental factors) and, where prevention is not possible, early detection and community management. Research overview

HOYVS 2000

Highlights of the year

Our obesity research examined risk and protective

We demonstrated that almost all children who are

• Commonwealth funding for Health Inequalities

factors

social

overweight in the early primary school years remain

socio-cultural

overweight as they approach adolescence. Around

influences on eating and physical activity customs,

1500 Prep to Grade 3 children from the 1997

and commenced a trial of obesity prevention in

Health of Young Victorians Study took part.

in

determinants

primary

schooi

children,

and

inequalities,

general practice. Our research in early language

Research Collaboration

X

< LU

Award at RACP scientific meeting

X Q

• Elizabeth Waters was awarded her PhD

X

u

• Melissa Wake took a leading advocacy role for

promotion and detection of early language delay

Infant sleep study

continues. Major studies on the epidemiology and

A brief, community-based sleep intervention

outcomes of hearing impairment in Victorian

decreased infant sleep problems and symptoms of

children were completed. Schools and communities

maternal depression, particularly for "depressed"

collaborated to examine air quality and child health.

mothers, reduced the need for other professional

Major collaborators

We published systematic reviews of the evidence-

child obesity by GPs

o u

• Victorian Health Promotion Foundation (VicHealth)

low cost and was minimally disruptive to families.

• Environment Australia

prevention of obesity; injury prevention; and

We are now seeking funding to translate this

• Department of Human Services

indicators of child health and well-being.

research into the primary healthcare sector.

• Cochrane Collaboration

Childrens' hearing impairment outcome study

Kids air study

This study of 7-8 year olds with hearing loss across

Preliminary outcomes demonstrate the feasibility of

Victoria has shown the sizeable burden carried by

children's

young deaf children, many of whom fall well below

exposure, and the challenges of collaborative

their peers in language skills. We will continue to

research

study the challenges faced by these children toward

community and air pollution research.

to

partnerships

measure

3

• Awarded AHMAC grant to study prevention of

sleep services, was acceptable to mothers, was of

diaries

>z

early detection of infant hearing loss

base for sociocultural influences, treatment and

their adolescence.

b

• Harriet Hiscock was awarded Young Investigator

H.:

4

time/location

involving

government,

\

te.. m

■ :;rT

I mp'A : --

m

_ Group Leader Professor Frank Oberklaid frankob@cryptic.rch.unimelb.edu.au

ANNUAL

REPORT

2001

41

!"


■i:

International Child Health k. f:i i;

We use clinical and epidemiological research to gain understanding of the important childhood illnesses in developing countries. We can then facilitate implementation of appropriate, affordable public health programs accessible to the poorest of children.

Research overview

Group A strep

We were involved in many projects in 2001

Group A streptococcus is a bacterium that causes

including: ongoing large vaccine trials in Indonesia,

sore throat, skin sores and severe infections like

the Philippines, South Africa and the Gambia;

flesh-eating disease, rheumatic fever, and kidney

global and regional work with the Global Alliance

disease. It is a particular problem in Aboriginal

for

communities

Vaccines

and

Immunisation;

and

the

development of child health services in East Timor,

and

developing

countries.

We

examine the problem in different populations and look for new treatments and preventive methods,

Vaccine studies in Fiji

including vaccines.

Streptococcus pneumoniae is the leading vaccinepreventable cause of serious infection in infants.

Highlights of the year

The pneumococcal conjugate vaccine currently

• Awarded WHO contract to evaluate burden of

available are expensive and unlikely to be affordable

vaccine-preventable diseases in Pacific Island

for most developing countries. A study has been

Nations

formulated to investigate alternative regimes for the safe and effective delivery of these vaccines. Funding has been sought.

• Jonathan Carapetis and Nigel Curtis were awarded new NHMRC grants • Jonathan Carapetis was awarded NHMRC Population Health Career Development Award

Pigbel in Papua New Guinea i

rim

m

isl

m

Before 1980 pigbel (enteritis necroticans) was the

Major collaborators

leading cause of death in children over two years of

• Victorian Health Promotion Foundation (VicHealth)

age in highlands PNG. A vaccine introduced in 1979

• Department of Human Services

dramatically reduced cases but production of the

• School of Population Health, University of

vaccine ceased in 1992. Although doctors in major

Melbourne

hospitals believe pigbel has disappeared, every year

• Menzies School of Health Research, Darwin

scores of cases are reported from remote highlands

• CRC for Aboriginal and Tropical Health, Darwin

i

health centres. This study will evaluate whether

I

pigbel remains a significant problem and if so, a new vaccine may be introduced.

Ijll

Group Leader Professor Kim Mulholland mulhollk@cryptic.rch.unimelb.edu.au

ANNUAL

REPORT

2001

42


Adolescent Health Interest in the health and emotional well-being of young people has grown as issues such as drug abuse, suicide and new infectious diseases have emerged. We have assessed common health risk behaviours, and evaluated interventions to improve the lives of young people in general, and those with specific health issues or who are socially disadvantaged. Research overview

The Gatehouse Project

Research outcomes

Threats to the health and emotional well-being of

This health promotion project is focused on building

• A genetic variant tyrosine hydroxylase gene may

adolescents are recognised as being increasingly

positive social relationships in the school setting. It

protect against nicotine dependence

X

important. Much of the burden of adult disease arises

aims to promote emotional well-being and prevent

from health problems and life-style choices first

behavioural problems by strengthening of a sense

increase risk of cannabis experimentation and use

evident in adolescence. Our research encompasses

of positive connection to school. The broad

among older secondary school students

population-based epidemiology, implementation and

framework is that of a large, randomised controlled

• Interventions that target both whole-school

evaluation of preventative interventions, and clinical

trial involving successive cohorts of over three

environment and individuals' cognitive skills

research. Current studies address the prevalence,

thousand students.

reduce initiation of drug use in young people

• Problematic

parent/child

attachment

<

styles

LU

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distribution, natural history, health and psychosocial consequences of these health risk behaviours.

Genetic psychiatry

Highlights of the year

We are examining genetic risk and protective

• Gatehouse Project received VicHealth Award for

International youth development study

factors in the development of common mental

This study will investigate the epidemiology of

health

substance use and abuse by school students in Victoria

behavioural disorders (drug addiction). Genetic

disorders

(depression,

anxiety)

and

and Washington State USA. Information provided by

samples have been collected from participants in

students, school administrators and parents will help

the Victorian Young Adult Cohort Study, a

to answer questions about the similarities and

longitudinal study of the health and well-being of

differences in initiation, progression and maintenance

around 2000 young people from 1992 to 2001.

of drug-using behaviour between Victoria and

This is one of the few longitudinal studies

Washington State, and the impact of harm

worldwide that has information on both social and

minimisation versus abstinence policies and practices.

genetic determinants of mental health.

Group Leader Professor George Patton gpatton@cryptic.rch.unimelb.edu.au

Excellence in health promoting research • Awarded three new NHMRC grants • Lena Sanci was awarded an NHMRC Postdoctoral Fellowship

ANNUAL

REPORT

2001

43


Public Health & Genetics We look at how genetic tests ore impacting on various subgroups in the community. Two subgroups we ore studying ore: Pregnant women who may or may not have prenatal testing for birth defects such as Down syndrome or spina bifida; those who have a strong family history of bowel cancer.

Research outcomes as Down syndrome is assessed, and we continue to examine genetic counselling services for couples who have a baby with a birth defect or hereditary bowel cancer.

over had a prenatal diagnostic test in 2000, the decline due to increased use of screening tests • Pregnancy outcome of 6057 maternal serum screening tests done in one year showed that

Choice and prenatal diagnosis

73% of fetuses with Down syndrome were

Analysis of 476 questionnaires given to pregnant

detected

women (37 years and over) shows that reproductive

• Over 100 people having predictive genetic

choice is possible: the vast majority of those who

testing because of being at high risk of HNPCC

have not had a prenatal diagnostic test for

showed no evidence of negative psychological

chromosome

impact

abnormalities

such

as

Down

syndrome, have been offered and chosen not to have one. Approximately 33% of older pregnant

Highlight of the year

women do not want an invasive test, but many

• Jane Halliday received a five-year NHMRC Public

would have screening.

■■I

• Only 50% of pregnant women 37 years and

Health Career Development Award

Research overview

Predictive genetic testing for hereditary non­

Major collaborators

A central theme of our work is to evaluate services

polyposis colorectal cancer

• Victorian Perinatal Data Collection Unit

that involve genetic testing in the community. We

Clinics from all over Australia contribute recruits to

• Department of Human Services

collate a report on the data related to every prenatal

our study into the impact of having a predictive

• Familial Cancer Centre, Royal Melbourne Hospital

diagnostic test (amniocentesis and chorion villous

genetic test on those who are already at high risk of

samples) done in Victoria. This reveals changing

this condition on the basis of their family history.

Major sponsor

patterns in use of these diagnostic tests because of

Questionnaires given before and after testing and

• Anti-Cancer Council of Victoria

the increasing availability and uptake of maternal

over a three year follow up period, are measuring

serum screening. The impact of genetic testing on

psychological responses to the testing as well as use

the number of babies born with birth defects such

of follow-up screening services.

f'

Group Leader Jane Halliday halliday@cryptic.rch.unimelb.edu.au

ANNUAL REPORT 200 1

44


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Cancer Research We have stood by our commitment to provide the highest possible standard of core for children diagnosed v/ith cancers and blood disorders. In the Department of Clinical Haematology and Oncology, it is our policy to continue to work towards finding improved treatments for our patients, and we encourage participation in clinical trials for this reason.

:L,

Clinical trials

Immunotherapy

In 2001, 60% of our patients were registered on

We are currently performing clinical trials using

offering a chance of successful cell therapy. The bank

clinical trials: the acute lymphoblastic leukaemia study

immune cells from cancer patients as a vaccine against

now has 2200 units stored and available for searching

VII, Hodgkin's lymphoma study III, baby brain 99 study

their own tumours. We custom make each vaccine to

by transplant centres. To date 20 units have been

and the vaccine studies have all continued to accrue

be specifically targeted against each patient's tumour.

released to Australian and overseas centres for the

patients. The Children's Oncology Group provided 23

This strategy for treating cancer utilises the powerful

treatment of cancer patients. Follow-up studies will

trials for our patients. There are three pharmaceutical

mechanisms that the immune system has in place to

determine cure and survival rates.

trials open to accrual. Preliminary analysis of the acute

destroy dangerous and harmful cells. At present we

lymphoblastic leukaemia study VII shows that the cure

are treating patients with anti-tumour vaccines who

Detecting residual leukaemia

rate has improved significantly.

have been diagnosed with neuroblastoma, solid

• The new flow cytometric method of detecting

Molecular oncology

tumours or brain tumours. Further studies are under

residual leukaemic cells after chemotherapy was

way, to improve the efficacy of the vaccines.

improved and can now detect one leukaemic cell

li.

among 10,000 healthy cells. Residual leukaemic

Our laboratory has been examining genomic imprinting (or parent of origin allelic expression) and

Leukaemia Research Fund stem cell laboratory

cells were detected in 6 of 57 children studied.

the mechanisms associated with

maintaining

A new laboratory has been established to

Some patients have now been followed-up for 2

imprinting on human chromosome 11. Abnormal

investigate how blood stem cells grow. These

years and the prognostic value of this test is

imprinting is associated with some genetic disorders,

studies will teach us how we can manipulate blood

continuing to be evaluated.

including Beckwith Wiedemann Syndrome, and

stem cells to improve transplantation for leukaemia

human cancers that arise in patients with this

and blood disorders, and also help us to develop

Highlights of the year

syndrome. Understanding the mechanisms that

gene therapy approaches to these diseases. We will

• David Ashley was appointed an NHMRC Fellow

maintain normal imprinting will give insights into

also investigate the cause of leukaemia, with the

and received the Children's Oncology Group

how and why it may be disrupted in human disease.

intent of being able to develop specific therapies.

Translation Research Award • Henry Ekert was appointed Associate Editor of

National cord blood bank

the Haemophilia Forum

Studies on the manipulation of umbilical cord blood have delivered a stem cell "product" of high quality. Group Leader David Ashley ashleyd@cryptic.rch.unimelb.edu.au

ANNUAL

REPORT

2001

46


,r

i

Neonatal Care Our research improves the health of all newborn babies by focusing on influences before and just after birth. Our efforts are concentrated on the babies who have an increased risk of later problems, for example those born too early. The major outcomes of interest are lung and brain function through childhood and beyond.

Research overview Premature babies are at increased risk of major

apoptosis as a prelude to elucidating its role in

neuro-developmental problems like cognitive delay

neonatal disease. The specific focus of the project is

and cerebral palsy. We investigate the mechanisms

the clarification of the regulation of proteases

underlying these problems and test treatments that

(caspases) involved in apoptosis.

may reduce the number of babies affected. Our other major area of interest is lung disease in

Research outcomes

newborn infants. We are looking at ways of caring

•.Prophylactic indomethacin reduces rates of

UJ ct:

for term babies with lung inflammation as well as

intraventricular haemorrhage and patent ductus

<

developing new strategies for supporting the

arteriosus in extremely premature infants but

breathing of premature babies. In addition, we

does not affect long-term neurodevelopment

< < z

synthesise the research findings in these areas in a

• Resuscitation using volume ventilation is superior

form useful to other health professionals using the technique of meta-analysis.

U

o LJU

z

to conventional methods in a lamb model • DIABLO promotes caspase activation and thereby apoptosis by binding to inhibitors of apoptosis

Intubation of neonates trial

protein (XIAP) and antagonizing its antiapoptotic

This is an international, multicentred, study to

effect

determine whether treating premature babies with less invasive nasal prongs is better for them than

Major collaborators

the conventional treatment of placing a tube in

• Department of Physiology, Monash University

their windpipe.

• McMaster University, Canada • Walter and Eliza Hall Institute

Molecular regulation of apoptosis Apoptosis (programmed cell death) is implicated in

Major sponsors

the pathogenesis of many diseases, including

• National Health and Medical Research Council

neonatal hypoxic-ischemic encephalopathy. This

• Abbott Australasia

project aims to understand the normal regulation of

Group Leader Professor Colin Morley Li,

morleyc@cryptic.rch.unimelb.edu.au

ANNUAL

REPORT

2001

47


Cardiology

Victorian Infant Brain Study

Our clinical and laboratory research is dedicated to the study of heart diseases ill : JU/Ve aim to I the diagnosis and treatment of children with heart diseases, and ultimately to reduce the impact of these conditions on children and their families. J I*

Research overview Cardiovascular disease is an important cause of illness and death in children in Australia and worldwide. Being based in the Royal Children's Hospital allows us

to

juxtapose

state-of-the-art

cardiovascular research with a world class clinical service. Our research is dedicated to the study of congenital heart

disease,

heart

disease

in

newborns and pulmonary hypertension. Research outcomes • Ten presentations selected for World Congress of Cardiology and Cardiac Surgery • Publication in several top peerreviewed journals in the field • Contributed three chapters to the major textbook "Paediatric Cardiology"

m

Our research interest is focused on understanding brain development and injury in the newborn, particularly in those born prematurely. Each year, around 3000 premature infants weighing less than 1500 grams are born in Australia and New Zealand. Of the 2650 survivors, 25-50% will exhibit developmental disabilities and 5-15% will hove cerebral palsy.

Highlights of the year

require an understanding of the cause. With

an

increasing

number

of

extremely low birthweight babies, the absolute number of affected children will continue to rise. The educational and social

implications of these

high rates of neuro-developmental disability are enormous and the focus of

wide

international

concern.

We use advanced magnetic resonance imaging

(MRI)

understand

techniques

alterations

in

to brain

structure and chemistry. infants born prematurely?

Cardiology Dan Penny and

Si

Prevention of these disabilities will

• What is the nature of brain injury in

• Arrival of new Director of sS

Research overview

• How does brain structure relate to

Consultant Lara Shekerdemian

long term function?

• Dan Penny and Lara Shekerdemian were invited speakers at

Major collaborator

International symposia in the USA,

• Howard Florey Institute

S; Italy, Scotland, UK and Germany . Group Leader

Group Leader

Dr Dan Penny

Associate Professor Terrie Inder

pennyd@cryptic.rch.unimelb.edu.au

indert@cryptic.rch.unimelb.edu.au

ANNUAL

REPORT

2001

48


Asthma, Allergy & Immune Disorders Our research examines the immune and environmental abnormalities that lead to allergic diseases such as asthma, eczema and food allergy. These diseases are increasing dramatically in the childhood population. Our ultimate goal is to improve disease management or prevent disease onset. Research overview The Cytokine group examined cytokine imbaiances

TH2 responses in childhood. A long-term follow up

in chiidren with eczema and asthma, T-ceii

study of asthma patients demonstrated that

responses to aiiergens, and the deveiopment of

resolution of asthma symptoms was associated with

cytokine responses throughout chiidhood. The

changes in cytokine profiles.

• Adhesion molecules play an important role in i/> ai UJ

the development of asthma

infiammation in asthma. Novei treatments targeting

The role of adhesion molecules L-selectin and

cytokines or adhesion

moiecuies are being

ICAM-1 in lung inflammation was examined in an

Major collaborator

investigated. The Aiiergic Diseases group examined

animal model of asthma. They were found to play

• National Centre for Epidemiology and Public Health

the infiuence in eariy iife of environmentai factors

critical roles in this process, and their roles in

(air quaiity, bedding, eariy virai infection) on the

asthma will be further delineated. Novel treatments

deveiopment of aiiergy. The Food Aliergy group

targeting ICAM-1 or IL4 are under evaluation.

mediated

food

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z

r)

adhesion moiecuies in the deveiopment of iung

Role of adhesion molecules in asthma

non-igE

o

inhibit airway inflammation in asthma • Cow milk hypersensitivity is an important cause

Asthma group examined the roies of cytokines and

investigated

Q

• A novel asthma therapy targeted to IL4 may

of infant irritability and distress

03

>-

o UJ

< < 5 I

aiiergy

CO

<

syndromes and their roies in infant irritabiiity and

Research outcomes

gastro-oesophageai

• Demonstrated that cytokine release in childhood

refiux, and the immune

mechanisms underiying these conditions.

is age related • The TH1 response to allergens is increased in

Human cytokine imbalances in atopic disease Contrary to generally held beliefs, the immune response to allergens stimulated increased TH1 and

allergic children • Resolution of asthma is associated with changes in cytokine production

Group Leader Dr Mimi Tang tangm@cryptic.rch.unimelb.edu.au

ANNUAL

REPORT

2001

49


Child Developmenf & Rehabilitation Our commitment is to children with disabilities such as cerebral palsy, intellectual impairment and autism spectrum disorders. The research program has two important aims: to learn more about the causes of childhood disability; and to improve treatment methods to ensure the best possible outcomes for children and their families. Research overview

Highlights of the year

During 2001, we investigated the antecedents

evidence as to whether a more intensive home-

of severe cerebral

palsy,

based service, in conjunction with a centre-based

with

predisposing

mutations

thromboembolism.

including the link to

service, leads to better outcomes for families and

In collaboration with the

children. The study has the potential to guide best

carriers

departments of Orthopaedics and Physiotherapy, we

practice both in Australia and overseas.

assessed functional outcomes following Botulinum

• A cerebral palsy research workshop with 130 participants from across Australia • Publication of the "Melbourne Assessment of Unilateral Upper Limb Function" • Commencement of research in the area of autism spectrum disorders

toxin, in evaluating single event multilevel surgery,

Victorian Cerebral Palsy Register

and in studying Botulinum toxin and bracing for hip

This was redeveloped during 2001, providing

problems in cerebral palsy. A multidisciplinary group

important data about the epidemiology of cerebral

investigated spasticity management, including the

palsy and generating cohorts for further studies

use of baclofen infusions. Research in saliva control

into causes and treatment outcomes.

• Collaboration with Westmead Children's Hospital studying outcomes of intrathecal baclofen infusions

progressed with an orthodontic device being evaluated. Our Uncle Bobs Child Development

Research outcomes

Centre aimed to determine the best methods of

• Wellbeing in mothers of children with cerebral

providing services to children and families.

palsy is related to degree of social support and amount of perceived stress

Early childhood intervention Do more intensive services improve outcomes for

• Increased risk of cerebral palsy related to co-twin death was similar for same and different sex twin

children with developmental delay and their

pairs and was observed across all birth weights

families? This innovative project will provide

and gestations

Group Leader Dr Dinah Reddihough reddihod@cryptic.rch.unimelb.edu.au

ANNUAL

REPORT

2001

50


Orthopaedics - Hugh Williamson Gait Analysis Service Orthopaedics looks after children who have had bone injuries and those who are affected by chronic diseases of the musculoskeletal system. Gait Analysis focuses on investigating how children walk^ what can be done to help them walk better, and what impact limited walking ability has on their lives. J 1 1

l I

lO

Research overview

Surgery for children with cerebral palsy

Research outcomes

The Hugh Williamson Gait Analysis Service sees

There are numerous different operations for children

• Improved outcomes for children who have had

children routinely to investigate walking difficulties.

with cerebral palsy and very little evidence to suggest

Most of these children have cerebral palsy or spina

which are good and which are bad. We have an

• Identified optimum dose of Dysport® (Botulinum

bifida. The first aim of our research is to better

ongoing research program to evaluate orthopaedic

Toxin) for children with diplegic cerebral palsy

understand exactly why these children have

surgery, to provide us with this information.

problems with walking. The second aim is to

u o uu < o_

o X

orthopaedic surgery for cerebral palsy

a:

o

Highlights of the year

evaluate how effective established techniques are

Thigh bone fractures

for helping these children. Finally we play a leading

When a bone is fractured, the pieces can either be

international role in pioneering new forms of

held firm by a plaster or an external fixator (a metal

treatment and evaluating their effectiveness.

frame on the outside of the leg). We have an

manufacturers of Gait Analysis Equipment, have

international collaboration with Toronto, Los Angeles

adopted Melbourne as its major international 6-

Walking patterns in children with cerebral palsy

and Auckland to find out which is more effective.

test site for software

children with cerebral palsy can walk. The aim of

Functional brain imaging and hemiplegia

Major collaborators

this project is to identify groups of children who

We have known for a long time that brain damage

• Hospital for Sick Children, Toronto

walk similarly. By recognising these patterns,

can affect how the arm moves. This study is

• Richard Baker was recruited to lead the Hugh Williamson Gait Analysis Service • Oxford Metrics (UK), the major international

There are a wide range of different ways in which

i

treatment of individual children should be easier.

Group Leader Professor H Kerr Graham grahamk@cryptic.rch.unimelb.edu.au

/

suggesting for the first time that how the arm is

Major sponsor

treated can affect how the brain behaves;

• Nike

ANNUAL

REPORT

200 I

51


Paediatric Anaesthesia We investigate any and every aspect of nursing practice. Our focus is wide and extremely varied, iQwever the commpivjci*

Each year, almost 17,000 children undergo procedures at the Royal Children's Hospital, many involving significant risks. Our group is committed to evaluating and improving pain management and care of children before, during and after their operations.

mm

best possible nursing care for patients and their families. Research outcome

Research Overview During 2001, we had 20 research

Oral sucrose administered to infants

studies in progress, covering topics

prior to heel lancing reduces the

as diverse as: the role of the family

pain of the procedure

ill

in providing health care; breastfeeding support;

development

of

best

3'

ft Highlight of the year

practice guidelines; assessment and

• Awarded DHS grant to evaluate the

management of pain; and nursing

role of Nurse Practitioner in stomal;

management of the critically ill.

therapy/continence and wound management

Research overview We

currently

have

15

projects

underway, investigating all aspects of the care of children having procedures that

require

pain

management.

Outcomes assessed include traditional clinical outcomes, as well as patient and parent satisfaction, and the economic implications of our care. This research continually reshapes our current practice. Our main areas of research are; • Development and assessment of a new Care-By-Parent Unit • Assessment of the depth of anaesthesia by the monitoring of brain activity • Assessment of new drugs and techniques for pain control after

Role of nurses in development of

operations

evidence-based clinical pathways Lack of training in the skills necessary

5 j

to use research in clinical practice is a ^ja known barrier to evidence-based care.

.

11" ii'

*‘“" This project examines how this barrier impacts on nursing's collaborative

V: ..iJ

approach to patient care with other

Major collaborators • School of Public Health, University

^11

of Melbourne

g;ii

Major Sponsors • National Health and Medical

j

health professionals.

Research Council • ANZ College of Anaesthetists • Helen MacPherson-Smith Trust

Group Leader Dr Chris Bolton

Group Leader Associate Professor Linda Johnston johnstol@cryptic.rch.uninielb.edu.au

,

boltonc@cryptic.rch.unimelb.edu.au Iff:

ANNUAL

REPORT

2001

52


Neurosciences Epilepsy, disorders of brain development and neuromuscular diseases can be extremely disabling conditions in childhood and beyond. Our research covers the genetic causes of epilepsy, epilepsy drug trials, molecular mechanisms underlying abnormal human cortical development, and the role of brain scanning and surgery in curing epilepsy. Finding a cure for muscular dystrophy is the main focus of our muscle research. Research overview

Surgery for hypothalamic hamartoma

Muscular dystrophy research

CO UJ

There are ongoing studies of surgical treatment for

and epilepsy

• A variety of techniques of gene repair of the

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refractory epilepsy, with new imaging modalities

Pioneering epilepsy brain surgery for children with

mdx mouse point mutation have been

and

intractable

attempted this year. These techniques include

surgical

techniques

being

investigated.

epilepsy

due

to

hypothalamic

U

Functional MRI was used to study expressive

hamartomas, attracted patients from all over the

Short Fragment Homologous Replacement

language in children with brain abnormalities and in

world including USA and UK. Ongoing research

(SFHR), electroporation and microinjections. Some

normal children. Research into the genetics of

promises to unravel the mysteries of this condition.

encouraging results were obtained and further

epilepsies and the discovery of several genes

Functional MRI in children

these techniques in human cell lines.

epilepsy led to the characterisation of familial responsible for seizure. New projects include the

We have utilised this brain scanning technique, which provides pictures of brain function rather

Highlights of the year

basis

22q11-deletion

than structure, to image brain activity associated

• Andrew Kornberg was appointed Director of

syndrome, in the hope of further expanding the

with language production in 45 normal children

knowledge

mechanisms

aged 7 to 15 years. A consistent pattern of localised

underlying abnormal human cortical development.

activation was seen across these groups. This helps

Neuromuscular research involved attempted repair

us understand language development in children

of damaged genes in Duchenne and Emery-Dreifuss

and to plan brain surgery in children with tumours

muscular dystrophies, with encouraging results.

and epilepsy.

patients of

with

the

the

molecular

1/5

o

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z

studies are underway to assess the applicability of

study of the neurological phenotype and molecular of

u

Neurology • Dr Rick Leventer was awarded an MCRI Career Development Award • The epilepsy surgical program caught worldwide print and TV media attention

Group Leader Dr Andrew Kornberg kornberg@cryptic.rch.unimelb.edu.au

ANNUAL

REPORT

2001

53


Psychological Development

I

Mental health problems contribute greatly to our society's health burden. Issues such as anxiety depression, attentional problems, learning difficulties and cognitive impairments can affect relationships, emotions, and normal development. Our research is aimed at learning more about these disorders and enables the development of effective prevention and intervention programs.

research to identify risk factors psychological

disorders and

emotional distress in childhood. Other research involves

investigating

developmentally

programs to maximise recovery and quality of life.

We are conducting outcome studies with children,

The Community Mental Health group is responsible

adolescents and adults that were born with an

for mental health outcome studies and intervention

inter-sex condition and treated at RCH. We will

programs in the community, while Consultation and

determine the effect of medical treatment on the

Liaison Psychiatry investigates the mental health

general

issues associated with acute and chronic medical

relationships, body image, gender identity, and

conditions.

sexuality of people with inter-sex conditions.

Neuropsychological and psychosocial

Highlights of the year

sequelae of cerebellar tumour in children

• Brigid Jordan (Social Work) and Cathy Catroppa

This study aims to elucidate the role of the cerebellum in the cognitive and behavioural problems observed in children with these tumours and to describe the role of deficits of attention and

health,

mental health,

i

interpersonal

were awarded PhDs • Dr Cathy Catroppa was awarded an NHMRC Research Fellowship • Pfizer awarded funding for a randomised

information processing in delayed acquisition of

controlled study that assesses the effectiveness

academic skill over time.

of SSRIs in reducing symptoms in children with

tV

Cognitive-behavioural therapy for childhood

The Clinical & Developmental Psychology group is associated with

condition

Asperger Syndrome

Research overview

conducting

Outcomes for people born with an inter-sex long-term outcome, and designs early intervention

the

effectiveness

appropriate

of

intervention

programs. Our Child Neuropsychological group is investigating the impact of brain pathology across childhood to identify factors that predict short and

anxiety disorders

Major sponsors

Anxiety disorders in children are associated with a

• Pfizer Pharmaceuticals

wide range of short and longer-term psychological

• Rotary

problems. This study is a randomised, controlled trial evaluating the effectiveness of cognitive behavioural therapy for the treatment of childhood anxiety disorders in a mental health service compared with other treatments currently offered in mental health services around the world.

Group Leader Professor Margot Prior priorm@cryptic.rch.unimelb.edu.au

ANNUAL

REPORT

2001

54


I

>:

ii


w

Cell & Matrix Biology Diseases of cartilage, bone and muscle represent a significant clinical problem. Our knowledge of the causes of many of these conditions is incomplete, as is the basic understanding of the biology and control of tissue development, structure and breakdown.

of important structural proteins, leading to brittle

juvenile chronic arthritis. Our research program studies

bone disease (osteogenesis imperfecta), cartilage

the complex biochemical processes that lead to joint

disease (chondrodysplasias) and muscle disease

disease by identifying the enzymes involved in

(myopathies). Another major research effort of the

cartilage destruction, detailing their catabolic activities

Unit is aimed at elucidating the pathways of

and unravelling the mechanisms that control their

cartilage destruction in arthritis.

expression in cartilage.

Growth cartilage disorders

Research outcomes

Research on mutations of collagen X In inherited

• Definition of the molecular genetics of Bethlem

cartilage disorders has shown that these reduce collagen X production, or its ability to form stable structures, leading to deleterious changes in growth cartilage organisation. Our studies are leading to a better understanding of the role and structure of

myopathy • Characterisation of mutations in the inherited cartilage disease Schmid metaphyseal chondrodysplasia • Development of a laboratory model for analysis of collagen dysfunction and therapeutic intervention in

Our studies are directed at defining these

collagen X In cartilage development and growth,

biochemical pathways, so that new diagnostic and

and will have Implications for better therapeutic

brittle bone disease - osteogenesis imperfecta

clinical treatments can be developed to improve the

strategies and the development of biomaterlals for

• Development of a new program investigating the

quality of life of children affected by debilitating

cartilage repair.

role of steroids in fetal lung development

musculoskeletal diseases.

!

Molecular basis of myopathies

Highlights of the year

Research overview

Our work in this area focuses on the inherited

• John Bateman invited to serve on the NHMRC

The extracellular matrix of musculoskeletal tissues is

muscle wasting disorder, Bethlem myopathy, which

an intricate network of proteins, which provide

is caused by mutations in the three collagen VI

both structural scaffolding and regulatory signals

genes. In muscle, collagen VI microfibrils surround

article for the prestigous journal Nature

for cellular growth and tissue development. Our

each cell and they are critical for normal function of

• Amanda Fosang awarded $98,000 from the

research is directed at understanding the synthesis,

the muscle fibres. We have developed two new

regulation, structure, function and degradation of

genetic tests so we can rapidly screen patients for

these complex matrices in development and in

collagen VI mutations,

inherited and acquired diseases. Studies on collagen

diagnosis and genetic counselling for families.

This will allow accurate

Program Grant Committee • Amanda Fosang invited to write a New&Views

Mizutani Foundation for Glycoscience Research Major sponsors • National Health and Medical Research Council • Mizutani Foundation for Glycoscience Research

diseases have defined many mutations in this family Cartilage damage in arthritis Arthritis affects all sectors of the community, including Group Leader Professor John Bateman bateman@cryptic.rch.unimelb.edu.au

children who can be severely incapacitated with ANNUAL

REPORT

2001

56


Molecular Development Children of uncertain sex are born one in every 4,000 births and cause major concern. Our research aims to understand how changes in the development of testes or ovaries may result in children with ambiguous genitalia. This knowledge will improve the care of these children and will provide unique insights into the development and disease of other organs. Research overview

Gene functions

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Highlights of the year

Development of a testis or ovary requires the

We are analysing the function of these newly

• Andrew Sinclair was invited to speak at the

coordinated functioning of many genes and

identified genes in gonad development by over­

Novartis Foundation Symposium, London

proteins. A breakdown at any point in this complex

expressing or down-regulating them in isolated

developmental pathway may lead to a child of

gonads grown in vitro. This will show whether a

uncertain sex. We have previously identified a

novel candidate gene can cause an undeveloped

number of key genes in gonad development.

gonad to become a testis or an ovary. This will

Recently, we have also identified other genes that

enable us to unravel the complex interactions

have a

between genes in this developmental network.

potential

role

in testis and

ovary

S Q_

g LU

>

LU

• Andrew Sinclair was invited to join the NHMRC

Q

Fellowships Committee

r>

u

• Jocelyn van den Bergen was the top Bachelor of

o

Science Honours student • Participation in the Biomedical Research exhibit at Museum Victoria

development. We are now analysing the function of these genes to see how they interact with each

Research outcomes

other to form a testis or ovary. This research aims to

• Identified 90 candidate testis-determining genes

discover how these genes contribute to cases of

• Identified 11 candidate ovary-determining genes

uncertain sex in children.

• Developed new techniques for analysing the function of genes in the gonad

I

Novel genes in testis and ovary development We have recently identified 101 genes, which are new candidates for testis or ovary development. We will be further analysing their role in the development of these organs.

Group Leader Associate Professor Andrew Sinclair sindair@cryptic.rch.unimelb.edu.au

ANNUAL

REPORT

200 1

SJ


Embryology Embryos dramatically change their shape through controlled re-positioning of cells. We are tracking how this occurs normally, and how it goes wrong in birth defects. We also focus on invasive cancers, where many of the same steps re-appear in uncontro led form.

Research overview

Functional studies on Treacle

The focus of the Embryology Group is the neural

Treacher Collins Syndrome Is a genetic defect in

crest system. This originates in the central nervous

early embryonic development of the face. This

system, but the ceils migrate away to form the

project is a pioneering functional study of Treacle,

peripheral nervous system and craniofacial tissues.

the protein responsible, and its role in normal cell

These are disproportionately involved in human

and developmental biology.

birth

defects. We are studying

craniofacial

abnormalities such as DiGeorge Syndrome to throw

Highlights of the year

light on normal development, and using normal

• Damien Bates received the Toshiya

development events to understand nervous system abnormalities such as Hirschsprung's Disease. In parallel, we also study carcinoma metastasis, which has features common to neural crest development, suggesting that the former is an uncontrolled

Yamada Award • Sonja McKeown was awarded a Keystone (USA) Travel Grant • Don Newgreen was awarded a new NHMRC project grant

version of normal development.

• Peter Farlie received the Ramaciotti Award

Human breast cell line model of metastasis

Major collaborators

We have identified the first model for inducible

• Department of Anatomy & Cell Biology,

epithelium-mesenchyme transition in a human

Melbourne University

breast carcinoma cell-line. This will enable us to

• VBCRC Invasion and Metastasis Unit

identify cancer genes via microarrays available for

• St Vincent's Institute of Medical Research

human cancers.

Group Leader Dr Donald Newgreen newgreen@cryptic.rch.unimelb.edu.au

ANNUAL

REPORT

2001

58


Craniofacial Sciences Our aim is to understand the causes and improve treatment of craniofacial disorders such as cleft lip and palate, through a combination of laboratory and clinical research. The Craniofacial Sciences Consortium (CFSC) was established to facilitate the flow of information and expertise between clinical and scientific groups with common interests in craniofacial biology. Research overview

Cleft lip and palate

CO LU

Approximately 110 children are born each year in

A CLP database has been established that will

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Victoria with cleft lip and/or palate (CLP). Children

enable detailed analysis of factors involved in the

o 00

born with CLP can be treated in a range of ways

cause, progression and outcome of treatment. The

u

including surgery, dentistry and speech pathology.

power of this registry is that information from many

However, outcomes of these treatments vary

disciplines is being brought together in a way that

Q z

enormously and while many children respond very

does not occur during normal clinical practice.

u

u

<

well, others are left with serious problems that persist for life. In the majority of cases there is no

Treacher Collins Syndrome

explanation for this variation and importantly, no

TCS affects the lower half of the face and often

way of predicting which child will respond poorly to

involves cleft palate. The gene responsible for this

treatment. We are trying to establish the basis of

condition is known but can be mutated in many

this variation by determining factors that correlate

different ways to cause TCS. We will use our

with a given outcome and can therefore be useful

registry to investigate the relationship between the

cues to determine the best course of treatment for

specific mutation in this gene and the response to

an individual.

treatment. Highlight of the year • Establishment of CFSC research forums to foster exchanges between clinicians and scientists

Group Leader Dr Sheena Reilly S.Reilly@latrobe.edu.au

ANNUAL

REPORT

2001

59


Microbiology & Infectious Diseases

i

Research in our group encompasses basic and applied areas of microbiology and infectious diseases. The main theme of basic research is bacterial infections, with a particular emphasis on the mechanisms by which bacteria cause disease. This research is partly directed towards discovering novel means to detect and characterise infectious agents in patients' specimens and to restrict the spread of these agents between patients.

group investigated the immune response of patients to infection with these bacteria. The Streptococcus group investigated the pathogenic mechanisms of group B streptococci. Pathogenesis of diarrhoea caused by E. coli Some important advances in our research effort during the past year included the discovery of the mechanism by which some strains of E. coli secrete toxins that cause diarrhoea. We also learned more about the ways in which pathogenic strains of E. coli evolve from harmless strains. Host-pathogen relations Another significant achievement was the finding that patients with

Buruli

ulcer (caused

by

Mycobacterium ulcerans) respond to infection mainly by producing antibodies to the bacteria,

Research overview

whereas asymptomatic household contacts show

The Yersinia group examined the way in which

both T-lymphocyte and antibody responses.

Yersinia enterocolitica strains of biotype 1A cause

Group Leader Professor Roy Robins-Browne rbrowne@unimelb.edu.au

disease. One focus of the E. coli group was atypical

Major collaborators

strains of enteropathogenic E. coli with a view to

• Associate Professor Paul Johnson, Austin &

discovering their pathogenic mechanisms and

Repatriation Medical Centre

clinical correlations. The Mycobacterium ulcerans

• Dr Elizabeth Hartland, Monash University

c;

ANNUAL

REPORT

2001

60

i


Gastroenterology & Clinical Nutrition We focus on a wide range of problems affecting the nutrition and health of children, including allergies, infections and inflammatory changes in the gut, liver diseases, cystic fibrosis, coeliac disease and constipation. Research is designed to identify causes and best treatments. Research overview

Major collaborators

Our group has a wide range of research interests,

the community. Collaborations across Australia

which successfully combine laboratory, clinical and

have helped to understand the spread of this virus,

public health areas. Strong collaborations exist with

establishing a logical basis for the use of vaccines.

other groups in the MCRI and Royal Children's

tz

Development • CDC Atlanta: Gastroenteritis Division

z < y z 13

• National Institutes of Health, USA

Hospital, as well as nationally and internationally. The

Research outcomes

• Prince Henry's Institute of Medical Research

strength of our research lies in its relevance to clinical

• Rotavirus cross infection via staff is a problem in

• Women's and Children's Hospital, Adelaide

problems and the treatment of diseases in children.

z Q

• PT BioFarma Bandung, Indonesia: RV Vaccine

hospitals

u

05

• Victorian Infectious Disease Research Laboratory O

• Emerging rotavirus serotypes influence vaccine Short bowel syndrome This study is defining the adaptive response after massive small bowel resection in a porcine model. The efficacy of treatment with glucagon-like peptide-2 and growth factors are being studied in both animal and human models.

design • Dietary complexity and colostrum influence gut adaptation • Nutrition support services improve delivery of parenteral nutrition • Pathological reflux is an unlikely cause of infant

o Major sponsors

z LU

• World Health Organisation (WHO)

O

• National Health and Medical Research Council

00

• Department of Health and Aged Care

O

<

• Department of Human Services • GlaxoSmithKline, SHS Nutricia, Norgine

distress Epidemiology of rotavirus infection in Australia

• Poor agreement between oesophageal pH and

We are examining the factors leading to cross

histopathology in distressed infants

infection of rotavirus in hospitals and the causes

• Improved growth following diagnosis of

and behaviour of outbreaks of specific serotypes in

asymptomatic coeliac disease in diabetics • Substance-P deficiency not a cause of slowed colonic transit

Group Leader Anthony G Catto-Smith cattosmt@cryptic.rch.unimelb.edu.au

ANNUAL

REPORT

2001

61


Surgical Research Childhooc conaitions that are usually treated surgically are the focus of our research. We aim to understand the biology of these conditions, forming the basis for less invasive treatment methods. Intestinal neuronal dysplasia and male infertility (due to lack of testicular descent in childhood) are key areas

of study.

Slow transit constipation

Research outcomes

Abnormal bowel function resulting in chronic

• Detailed study of regulatory factors for male

constipation in children is a major research interest

germ stem cells has shown that somatic cells of

- the recent focus has been on accurately

the testis have profound control of germ cell

determining the correct diagnosis in these children.

proliferation through the activin/inhibin pathway.

Preliminary 24-hour manometric studies confirm

Purification of type A spermatogonial stem cells

that large bowel motility is very abnormal in

using fluorescent activated cell sorting has

children with slow transit constipation. Histological

allowed culture of large numbers of cells and

correlation with the clinical and functional studies

will enable gene transfer into these cells, giving

suggests that intestinal neuronal dysplasia includes

germ line transmission of genetic traits. This

a group of related disorders of colonic innervation.

approach will enable future gene therapy applications and generation of transgenic mice,

Spermatogonial proliferation This research is directed to understanding the regulation of male germ cell proliferation and gene expression at and just after birth, when the life-long

with improved efficiencies. • A new gene (Claspin), expressed in neonatal germ cells, has been discovered and its function is currently being investigated.

spermatogenic stem cells are being laid down. A unique culture system has been established in this

Major collaborators

laboratory to grow spermatogenic stem cells in

• Howard Florey Institute

vitro. This has facilitated studies of the action of

• Zoology Department, University of Melbourne

growth factors, which effect proliferation, stem cell

• Department of Anatomy & Cell Biology,

regeneration and reconstitution of fertility, which is tested by transplantation of cultured germ cells into

University of Melbourne • Rotary Bone Marrow Laboratory, RMH

a sterile testis. Major sponsors • Gotta Get a Life Foundation • Nidkids Parents Support Group • ABC Auxiliary

Group Leader Professor John M Hutson hutsonj@cryptic.rch.unimelb.edu.au

ANNUAL

REPORT

2001

62


Hormone Research Our research is focussed on hormonal disorders in children, particularly diabetes, with its devastating long-term effects on eyes, kidneys and the developing brain; disorders of sexual development; disorders of growth; and disorders of bone development, potentially leading to osteoporosis. Our goal is to prevent the long-term adverse consequences of these conditions in early life. Research overview

Bone disorders

Research outcomes

The diabetes and neuroscience research groups

The impact of chronic disease on bone mineral

• Identified a screening strategy to predict which

studied diabetes in adolescence and effects of

accrual was examined, and treatment trials

children will have poorer health outcomes in

LU 1/5 LU

blood glucose control on brain development and

continued for use of bisphosphonates and vitamin

diabetes

LU

function. The healthy bones unit utilised the new

D metabolites in childhood bone disorders such as

bone densitometer to gather information on

osteogenesis imperfecta and osteoporosis due to a

osteogenesis imperfecta is safe and effective

normal bones and the effects of intervention for

variety of chronic diseases. The Vitamin D status of

• Demonstrated that damaging effect of glucose

diseases affecting bone development. Studies of

chronically ill and disabled children was studied.

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(j

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z o s o

• Showed bisphosphonate treatment of

X

starvation on nerve cells can be reversed by IGFs, and identified the intracellular pathways involved

sexual development included a large cooperative

in these processes

program following up people born with uncertain

Growth factors, diabetes and the brain

gender, a study on psychological aspects of Turner

Small blood vessels from the eye and kidney were

syndrome, and the role of the androgen receptor in

examined to determine how insulin-like growth

Highlights of the year

neurological disease.

factors (IGFs) promote tissue damage in diabetes.

• Invited lectures in Thailand, India, Vietnam,

Human nerve cells were also studied to investigate Diabetes and quality of life

the role of IGFs in protecting the young brain from

This project focused on diabetes issues in

the damaging effects of low blood glucose.

Germany, Canada, China and Japan • Published thirteen scientific papers, five book chapters and guidebooks for parents on diabetes and long-term cancer effects

adolescence, when control frequently deteriorates leading to early complications. It is establishing the

New roles for the androgen receptor

nature of the negative relationship between

This project investigated novel roles for the androgen

Major sponsors

diabetes control and adverse social factors and

receptor and may lead to new treatments for motor

• National Health and Medical Research Council

quality of life. Rational intervention studies will be

neurone disease and common conditions such as

• Juvenile Diabetes Research Foundation

designed to reverse these patterns.

male-pattern baldness. Research began on a mouse

• Motor Neuron Disease Research Institute

model of a motor neuron disease associated with an

• Pharmacia, Novo Nordisk, Elly Lilly, Serono

abnormal androgen receptor gene. Group Leader Professor George Werther werther@cryptic.rch.unimelb.edu.au

ANNUAL

REPORT

2001

63


Pituitary Research

Staph & Strep Research i

Most children who are .== goal is to use pituitary stem cells to ! develop new therapies for pituitary born with pituitary i disorders. gland defects fail to k Highlight projects thrive, and in some • Identifying the genetic basis of a cases have severe pituitary disorders in children symptoms which are • Identifying genes that control potentially fatal. A pituitary formation in man and major mouse is develop Research outcomes ..ce|I“bp|ed. therapies

for shildren with pituitary disorders, y5ing fheiatetf" 'advances IriWIri^'cell

Rheumatic fever, septic and toxic shock and Kawasaki's disease are associated with toxins arising from the "Golden Staph" and streptococcus bacteria and other important microbes. We hope to better diagnose and treat these diseases in children.

• Demonstrated that changes in the HESX1 gene are associated with pituitary disorders in children • Identified a region on the X chromosome that contains a malespecific pituitary disease gene

Around 1 in 2,000 children have a pituitary disorder. Pituitary hormone deficiencies in children cause poor growth and metabolism, infertility and an inability to deal with sickness and stress. We have identified genes that cause pituitary disorders in humans using mouse models. Our long term

pituitary "stem" cells

3

I f

septic shock, and a new blood test for Rheumatic fever in the Aboriginal population of the Northern Territory • Identification and characterisation of novel staphylococcal superantigen toxins Highlights of the year • Awarded two new NHMRC grants • Jonathan Carapetis won the Australian Society of Infectious Research in Infectious Diseases

Our research focuses on the causes, and

staphylococcal

management and

of

streptococcal

diseases, especially those that are exploring the pathogenic roles of superantigen

toxins

and

the

epidemiology of these diseases, with

grant Genetics and Developmental

therapeutic peptide in toxic and

thought to be toxin related. We are

NHMRC project grant, and Eli Lily • Published in Human Molecular

Research overview diagnosis

Highlights of the year • Paul Thomas was awarded a new

• Development and testing of a novel

Diseases Award for Advanced i -:l

• Identified a marker gene for Research overview

Highlight projects

*

the aim of developing new methods of

I

diagnosis and treatment.

Biology

"ii

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Group Leader Dr Paul Thomas

Group Leader

thomasp@cryptic.rch.unimelb.edu.au

visvanak@cryptic.rch.unimelb.edu.au

Dr Kumar Visvanathan

ANNUAL

REPORT

2001

64


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Genetics Education We provide genetics education programs for health professionals, school and tertiary students, teachers, consumers of genetics services and the general public. Our research focuses on what genetics information people want to know, and how and when they want to be educated. Our programs are evaluated to help design future programs. GeniOtC

Research overview We assess the knowledge of various groups and

has been conducted and resources have been

their attitudes towards and needs for genetics

developed, including Prenatal Diagnosis workshops.

education. This enables us to tailor a variety of Experiences of parents who have a child with

groups. The educational resources we have

a bone dysplasia

produced include: brochures and booklets; kits

High

containing worksheets for primary and secondary

disclosure of a disability have been reported. This

schools;

interactive

study examines their experience of disclosure of a

multimedia learning aids incorporating videos; the

bone dysplasia, in an attempt to make the process

geneCRC website; a genetics resource folder for

less distressing for parents.

teaching

aids;

miracles, ethical dilemmas (written and developed by Fiona Cunningham) will be distributed free to all

educational resources to meet the needs of these

CD-Rom

levels of parental

Australian secondary schools, providing resources for students and teachers on human genetics and

dissatisfaction with

general practitioners; and specialised workshops. We

the ethical issues that surround new technologies and their applications to medicine. The genETHICS competition was extended in 2001 to include NSW, in addition to Victoria, Tasmania and Queensland. It culminated in an exciting Grand

also conduct research to evaluate the effectiveness of

Educational resources

these educational programs, as well as being

• GeneTalk2 - PowerPoint presentation on gene

; which was a debate on genetic testing featuring

involved in community genetic screening programs.

technology with detailed speaker notes for

; Professor Bob Williamson and Dr Tom Shakespeare

Final at the. Melbourne Museum, a highlight of

. ■■vtijsass

senior secondary school teachers and students GP education

/*

The interactive CD-Rom genelSSUES: medical

• Medical Genetix - Interactive CD-Rom covering

Many Victorian GPs are aware that advances in

medical genetics for tertiary students

genetic technologies will impact on their work and acknowledge that their level of knowledge of

Major collaborators

genetics may be inadequate. A needs assessment

• Royal Australian College of General Practitioners • Department of Human Services • Anti-Cancer Council of Victoria • Museum Victoria

Group Leader Dr Sylvia Metcalfe. metcalfs@cryptic.rch.unimelb.edu.au

• NSW Genetics Education Program ANNUAL

REPORT

2001

66


Ethics We have consolidated our position at the forefront of ethicoh legal and social debates in genetics and health. Ongoing achievements in research, success in grant applications, and promoting professional and public debate marked our year in 2001.

Research overview

Research outcomes

The group continued to undertake world-class

• Julian Savulescu completed a book called

research in ethical theory and to publish on issues including:

cloning,

reproductive ethics, diagnosis,

stem

cell

technology,

pre-implantation

behavioural

genetics

Medical Ethics and Law • Published 14 journal articles

genetic

and

the

Highlights of the year

implementation of ethical guidelines. We are

• Rony Duncan achieved First Class Honours

engaged in interdisciplinary research with clinicians,

• Julian Savulescu offered Uehiro Chair in Applied

scientists and educationalists in MCRI, including for example, a theme research project that aims to develop 'world best practice' guidelines for the

Ethics, University of Oxford • Development of a new Journal of Medical Ethics

t/5

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site wvvw.jmedethics.com

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management of variations in sexual development. The project "Ethical issues in behavioural genetics"

Major collaborators

aims to answer questions such as whether genetic

• Centre for Medical Ethics, Oxford

tests for genes involved in behavioural traits such as

• Centre for Law and Genetics, Tasmania

addiction should be developed.

• Australian Institute of Health Law and Ethics • Centre for Applied Philosophy and Public Ethics

The "Devils Offer"

• Centre for Human Bioethics

Julian Savulescu and David McCarthy are examining

• Centre for the Study of Health and Society,

the value of non-medical information (such as

University of Melbourne

knowing the time of one's death or one's abilities) for well-being and autonomous decision-making. There is a strong philosophical base to this project. Prenatal testing and discrimination Julian Savulescu and Lynn Gillam are examining whether prenatal testing for conditions such as deafness

and

Down

syndrome

results

in

discrimination against the disabled. This project has a strong qualitative empirical research focus. Group Leader Professor Julian Savulescu savulesj@cryptic.rch.unimelb.edu.au

ANNUAL

REPORT

2001

67


Cell & Gene Therapy The CAGT Research Group uses the knowledge and resources from the Human Genome Project to develop novel therapies for common childhood diseases. While some therapies may require the development of techniques to deliver genes into stem cells, regulating the expression of genes with drugs may treat many diseases.

f'

ii

Research overview

Thalassaemia

Research outcomes

Our group is focussing on the use of human genes,

About 300,000 children are born every year with

• Development of "humanised" mouse models for

isolated and sequenced as part of the Human

various haemoglobin abnormalities, but most of

thalassaemia, Friedreich ataxia and Methyl

Genome Project, to develop novel therapies for

them die by the age of 10, due to lack of effective

malonic aciduria - carrying normal or mutant

thalassaemia, Friedreich Ataxia, Wilson's disease

therapy. Our research aims to correct the genetic

copies of the corresponding human genes, they

and Methyl malonic aciduria. We are delivering

defect in the bone marrow stem cells, or to

are invaluable for preclinical testing of gene

normal human genes into stem cells to achieve

stimulate the production of fetal haemoglobin

therapy and pharmacological procedures

long-term therapy. At the same time, we are

pharmacologically, to compensate for the defective

• Development of assays for drugs that may be

developing assays to identify drugs that may be

production of adult haemoglobin.

therapeutic for Friedreich ataxia and thalassaemia

therapeutic by overcoming the effects of specific mutations or by stimulating the activity of

Friedreich ataxia

complementing genes, so as to compensate for

Friedreich ataxia is a severe neurological disease for

Highlights of the year

mutations in any gene of interest.

which there is no effective therapy. Although

• Panos loannou and Jim Vadolas were invited to

frataxin, the protein affected, is needed in all

present their results at the International

tissues, the heart and some regions of the brain are

Conference on Thalassaemia in Athens

more sensitive than other tissues. Our research aims

• Registered SciBAC Pty Ltd to commercialise

to develop drugs to overcome the effects of the

CAGT research

most common mutation and thus increase the level of frataxin to therapeutic levels in all tissues.

Major sponsors • Brockhoff Foundation

Liver diseases

• Muscular Dystrophy Association, USA

Wilson's disease. Methyl malonic aciduria and

• Thalassaemia International Federation

others are among a number of liver diseases with

• Friedreich Ataxia Support Groups

life threatening complications. Our research aims to develop liver cell therapy using liver cells from donors or the patient's own cells after gene therapy. Group Leader Associate Professor Panos loannou ioannoup@cryptic.rch.unimelb.edu.au

ANNUAL REPORT 2001

68


Dermal Therapeutics When you look at someone's skin, what you see is the epidermis. We study how the epidermis responds to stresses like UV radiation and abrasion, we are trying to learn how the epidermis renews itself to maintain healthy skin. We are also developing a totally new skin therapy: a "gene cream" for the common skin disease psoriasis.

I

Research overview

"Gene cream" for psoriasis

Research outcomes

A complex network of growth factors or cytokines

Psoriasis is a disfiguring skin disease affecting 3% of

• Identified new cytokine regulatory mechanisms

controls skin growth. In the skin's outermost layer,

the

the epidermis, a particularly potent cytokine is

biotechnology company Antisense Therapeutics and

-insulin-like growth factor-1 (IGF-I). This year we

the world's

population.

In

leading

partnership antisense

with

company,

local Isis

y 3

• Demonstrated the potential for topical use of

<

the human IGF-I receptor antisense inhibitor

LLi

X

(DTI 064) in psoriasis lesions

continued our focus on the dissection and

Pharmaceuticals Inc, we are developing an antisense

manipulation of the epidermal IGF-1 response

inhibitor for use in a topical cream for clinical testing.

system because it is important in normal epidermal

In recognition of the quality of the MCRI Dermal

Highlights of the year

homeostasis and altered conditions like UV

Therapeutics antisense technology, the MCRI

• Chris Wraight was awarded a new NHMRC

damage, wound healing and skin cancer. In the

became the founding institutional partner in the

common skin disease psoriasis, which affects

successful listing of Antisense Therapeutics on the

children and adults, our powerful antisense

Australian Stock Exchange in December 2001.

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project grant • Awarded second USA patent on psoriasis antisense technology

oligonucleotide inhibitor of IGF-I action was tested

• Licenced our cutaneous antisense technology in

for its ability to penetrate psoriasis lesions. These

major commercial agreement with Antisense

results will be published in early 2002.

Therapeutics Ltd

Group Leader Dr Christopher Wraight wraight@cryptic.rch.unimelb.edu.au

CO

for IGFBP-3

ANNUAL

REPORT

2001

69


Cancer Genomics Our group uses several new technologies to find the cause of diseases such as cancer and infections. We build on the discoveries made by the Human Genome Project, to identify the molecules that cause these diseases. We then use this knoAvledge to develop better ways of diagnosing and treating sick children.

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Research overview

Evaluating the causes of rheumatic heart

We use a combination of Gene Expression

disease

microarrays, array-based CGH,

This collaboration with Nigel Curtis, Jonathan

in-house and

commercially available bioinformatics, and high-

Carapetis and Roy Robins-Browne has just begun.

throughput molecular pathology techniques to

We intend to identify the reasons why some

identify the fundamental drivers of a range of

Aboriginal children get rheumatic heart disease, by

disease processes. The initial outcome of our

studying immune system function.

experiments yields a selection of validated disease drivers that then become the basis for developing

Highlights of the year

novel diagnostic tests and therapeutics. This

• Established functional genomics laboratory at

genome-scale approach

also yields

knowledge of the fundamental

in-depth

mechanisms

underlying disease development.

MCRI • Set up genomics-based bioinformatics facility • Began major studies on cancer and infectious diseases

Identification of novel diagnostic and r-

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therapeutic targets in cancer

Major collaborators

This project studies a range of cancer types. We have

• BioLateral Inc

already found several new genes that appear to be

• Johnson & Johnson Pharmaceutical R&D

driving the development of cancer. We are now

• John Curtin School of Medical Research

characterising these genes as a prelude to studying

• Monash Institute of Reproduction and

their expression in tumours from hundreds of cases.

Development • University of Cape Town Medical School • Walter and Eliza Hall Institute

Group Leader Associate Professor Deon Venter venterd@murdoch.rch.unimelb.edu.au

ANNUAL REPORT 2001

70


i

Chromosome Research Gene therapy aims to fight disease by replacing altered genes with normal healthy ones. This is a promising approach for genetic diseases since treatments are targeted at the source. A key aim of our research is to develop a good molecular tool that can deliver normal functioning genes into patients. Research overview • Developed a novel chromatin immunoprecipitation

This laboratory has engineered a series of human

chromosome division, as well as provide a much-

artificial chromosomes that have the potential to be

needed tool to carry and express corrective genes

and array analysis method to investigate the

used as an ideal molecular tool to carry genes into

into patients for gene therapy treatment.

binding domains of key human centromere

patients

for

gene

therapy.

chromosomes

have

been

These the

proteins - several such domains have been defined

artificial

subjects

of

Centromere structure and function

X

u

using this technique

< LU

international patents that provide the basis for a

In the many trillions of cell divisions that our body

biotechnology company currently being formed.

undergoes during its lifetime, the centromere plays a

Highlights of the year

Other ongoing studies have examined how

key role in ensuring that our genetic materials are

• Published 12 primary research and review papers

chromosomes divide properly. For these studies, we

passed on accurately from cell to cell. A major aim of

have developed a powerful system that enables us

our research is to understand how the centromere

to molecularly dissect the chromosome component

works in carrying out this important task.

CO UJ UJ

5

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• Completed filing of new international patent on

X

human artificial chromosome technology

u

• David Amor was awarded an NHMRC medical

that controls this division process at a level of detail not possible before.

in major journals

Analysis of human neocentromeres Neocentromeres are new centromeres that are

postgraduate research scholarship • Owen Marshall was awarded an Australian Postgraduate Award

Construction of mini chromosomes

formed in regions of a chromosome that normally

Human artificial chromosomes are laboratory-

do not exhibit centromere activity. Our laboratory

• Andy Choo was appointed NHMRC Senior

engineered mini chromosomes that can function

was the first to discover this phenomena and

Principle Research Fellow and Professor,

like normal chromosomes inside a cell. These

remains at the forefront of its study. Using human

University of Melbourne

artificial chromosomes will facilitate research into

neocentromeres as an amenable model system, we

the complex properties of the human chromosome,

have new insights into the properties of the human

Major sponsors

including the component (centromere) that controls

centromere.

• National Health and Medical Research Council • Ausindustry

Research outcomes

• AMRAD

• Constructed second-generation artificial chromosomes with improved properties for gene Group Leader Professor Andy Choo choo@cryptic.rch.unimelb.edu.au

delivery and gene expression

ANNUAL

REPORT

200 1

71


Gene Identification & Expression Many childhood and adult-onset conditions have a genetic cause. Our research is uncovering the underlying genetic factors and focusing on how these factors cause disease, often in combination with environmental factors. Our work has led to earlier detection, better understanding and therefore better management of hearing loss and neuromuscular disorders. Research overview

Neuromuscular disorders

We are using genetic and molecular techniques to

We are investigating neuromuscular disorders

identify and characterise genes associated with i)

caused by the inability of mitochondria to generate

hearing loss and ii) a group of neuromuscular

enough cellular energy. These disorders vary greatly

• Published 10 papers in international scientific

disorders caused by an inability to generate enough

in severity and clinical presentation. Mitochondrial

journals

energy. The genetic clinical features of both

disorders not only affect children, but are also

• Awarded a Muscular Dystrophy Association (USA)

conditions are relatively complex. Our research

Implicated In late-onset conditions like Parkinson's

therefore often Involves detailed studies of affected

disease and diabetes.

Hearing loss Hearing loss affects nearly 1 in 600 newborn children. Many more people develop hearing loss in adult life. We are studying how a common cause of

grant • Filed preliminary patent on genes associated

Research outcomes • Identified several genes important in hearing

Major sponsors

• Performed chromosome mapping of a novel

• Garnett Passe and Rodney Williams Memorial

deafness gene • Developed novel microarray techniques to detect mutations in deafness genes

deafness in children, the connexin 26 gene,

• Analysed of the inheritance of mitochondria in a

interacts with other genes and environmental

mouse model for mitochondrial neuromuscular

factors to cause deafness. With the help of affected

disorders

families, we are also identifying novel genes associated with deafness.

postdoctoral fellowship

with ADHD-like condition

families, studies done in close collaboration with our clinical colleagues.

• Michelle de Silva was awarded a Helen M Schutt

Foundation • National Health and Medical Research Council • Kimberley Foundation • The Gene CRC Major collaborators • New Children's Hospital, Sydney

Highlights of the year

• The Bionic Ear Institute, Melbourne

• Tuomas Klockars was awarded a Calvert-Jones postdoctoral fellowship

Group Leaders Associate Professor Henrik Dahl dahl@cryptic.rch.unimelb.edu.au

•Ui:

ANNUAL

REPORT

2001

72


Gene Discovery Our research interesfs lie in finding genes that are responsible for nervous system problems from movement control to behaviour. Examining the normal function of the genes will help us to understand what goes wrong in disease and how to approach treatment or prevention. Research overview

Genes for an ADHD-like condition

Research outcomes

Two teams in behavioural genetics have been

A chromosomal inversion was found to segregate in

• Identified two altered genes in an "ADHD-like"

working to discover genes for quite different

a family with an impulsive behaviour reminiscent of

family

conditions. Using a family-based approach we have

ADHD. We established the two genes altered

• Mapped a second novel ataxia gene locus

discovered two genes that may cause attention

by this

• Identified protective and risk factors for tobacco

deficit hyperactivity disorder (ADHD). We also

partially characterised and are being considered

dependence in genes involved in dopamine

>O' LU >

established population-based procedures to identify

as candidates to contribute to ADHD in the

metabolism and transport

CO

genes that increase susceptibility to tobacco

general population.

inversion.

These

genes

have

been

o u

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Z m

Highlight of the year

addiction. Our neurogenetic research aims to

o

• Jan Fullerton and Tom Van Agtmael completed

identify the genes causing familial nervous system

Genetics of tobacco dependence

disorders known as ataxias, which cause loss of

In collaboration with the Centre for Adolescent

PhD theses and took up postdoctoral positions in

motor control. With the cooperation of affected

Health, we aim to identify genetic determinants for

the UK

families another novel genetic locus (where the

tobacco dependence. Genes involved in response to

gene resides) has been identified and the search in

nicotine and the brain's 'reward' system are being

Major collaborators

a previously identified locus narrowed.

investigated. The ultimate aim is to utilise this

• The Gene CRC

information to design better treatment strategies

• Centre for Adolescent Health

for those most at risk of addiction.

Group Leader Dr Susan Forrest anney@murdoch.rch.unimelb.edu.au

ANNUAL

REPORT

2001

73


Mitochondrial Research Mitochondria ore the powerplants in our cells that burn food to generate energy. Severe mitochondrial diseases can cause death in infancy or neurodegenerative disease in childhood^ v^^hile milder forms cause adult disease and may contribute to diabetic complications and other diseases. Our research aims to improve diagnosis, treatment and prevention. Research overview Primary

disorders

Complex I deficiency energy

Respiratory chain complex I deficiency is the most

generation can be caused by mutations in

of

mitochondrial

• David Thorburn invited to speak at international

common energy generation disorder. Complex I

conferences in London and San Diego

potentially hundreds of nuclear genes, or in genes

consists of at least 44 different protein subunits,

• Denise Kirby was awarded the Jeff Crouch Memorial Scholarship

encoded by the mitochondrial DNA that we inherit

however most patients with Complex 1 deficiency

only from our mothers. Our research is focused in

do not appear to have mutations in these subunit

three major areas:

genes, and we have succeeded in mapping the

Major sponsors

location of two novel genes causing Complex I

• National Health and Medical Research Council

1) Improving methods for diagnosis, prenatal

deficiency. A region on chromosome 20 was

• Muscular Dystrophy Association (USA)

diagnosis and genetic counselling

mapped by homozygosity mapping and small

• Juvenile Diabetes Research Foundation (USA)

regions on either chromosome 11 or 18 were

• United Mitochondrial Disease Foundation

2) Applying molecular and cell biology methods to

identified in a patient with a chromosomal

identify the mode of inheritance and causative genes

translocation. Further studies will identify the genes and show if they are common causes of Complex I

3) Studying the roles of inadequate energy

deficiency.

generation and excessive production of reactive oxygen species, both in primary mitochondrial

Highlights of the year

disorders and in more common conditions (eg

David Thorburn was awarded an NHMRC Senior

diabetes)

Research Fellowship

where

mitochondrial

dysfunction

contributes to causing disease

David Thorburn co-edited a special issue of 1

the American Journal of Medical Genetics on mitochondrial disease

C'

Group Leaders

I

Dr David Thorburn thorburd@cryptic.rch.unimelb.edu.au

ANNUAL

REPORT

2001

74


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Genetic Health Services Victoria

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Executive Committee

Genetic Health Services Victoria

Geneti Hea th Services Victoria

• Delivers genetic diagnosis and counselling services through eight metropolitan hospitals and

b.

ten non-metropolitan centres, ensuring that services are accessible to all the people of Victoria • Is one of the largest genetic services in the world

supporting choice by diagnosis,

and one of few that includes both clinical and

counselling, education & research

diagnostic laboratory services under the one administration • Is a centre of excellence and a centre of training in genetics, providing genetics training to people who wish to work as Genetic Counsellors, Clinical Geneticists,

Cancer

Geneticists,

Metabolic

Physicians or specialists with an interest in genetics a. Agnes Bankier - Director b. Anne Cronin - Chief Operating Officer c. Sam Wake - Represents Genetic Counsellors d. James Pitt - Represents Biochemical Genetic e. f.

• Has the largest clinical genetics team in Australia • Has the largest chromosome laboratory and DNA diagnostic laboratory in Australia • Promotes informed choice working with advocacy groups of the Genetic Support Network of

Martin Delatycki - Represents Clinical Geneticists

Victoria to support patients and clients

Desiree du Sart - Represents DNA & Cytogenetics Laboratories

www.genetichealthvic.net.au

ANNUAL REPORT 2001

76


Genetic Health Director'is Report The Victorian Clinical Genetics Services provides

clinicians to work cooperatively. We established the

We continue to strive to maintain excellence in

genetic services to the state of Victoria, and to

RCH

a

clinical and laboratory diagnosis, counselling,

Tasmania. We are proud to have been closely

formalisation of our commitment to paediatric

education and research. Genetic Health in the next

integrated with the Murdoch Childrens Research

genetics on this campus. I am pleased to report that

two years needs to:

Institute (MCRI) and the Royal Children's Hospital

all six Genetic Health laboratories have achieved

(RCH) but our remit goes wider than this campus.

NATA accreditation at the highest level.

Genetic

Service,

which

represents

To emphasise this and give us a distinct identity, we renamed ourselves Genetic Health Services Victoria.

• Build on our close links in MCRI and establish funding for clinical genetic research

The Commonwealth Privacy Legislation came into effect on the 21st December 2001 and the new

• Upgrade laboratory equipment

- to raise an

estimated $1.2M

The Victorian Minister of Health, the Honourable

Victorian Health Records Act was enacted in March

• Continue to define our core business for clinical

John Thwaites launched the new name in June

2002. This legislation governs our practice. We are

and laboratory services and our role in adult

2001 at an event that was well attended by the

now fully compliant, having developed practice

genetics

media, more than 70 invited guests and some 150

procedures and a patient information brochure -

staff and colleagues. To mark the occasion we

with input from the Genetic Support Network of

developed a new web site and GP educational

Victoria (GSNV), our newly appointed Privacy Officer

workshops, sponsored by Genzyme and the

Samantha Wake and Quality Officer Robin Forbes.

Department of Human Services (DHS).

• Build on a leadership role in training and genetic

O o.

education

UJ

• Develop and monitor strategic planning with our

CO Qi.

o

stakeholders

u LU

• Monitor excellence in service delivery

5

A deliberate strategic decision was made to develop a The launch had excellent media coverage on all

plan for the future together with our stakeholders,

Our Team

television stations and newspapers, high-lighting

these being the hospitals where joint services are

enthusiasm. I take this opportunity to thank our

the funding of an expanded newborn screening-

provided, the DHS and community representatives

line-managers,

program. We were so successful in achieving a new

through the. Following a series of strategic planning

Williamson and Associate Professor Eric Haan, and

identity that we now have to re-establish that

workshops, management retreat was held.

our COO Anne Cronin, for their support and

A number of guests made important contributions

the past year.

Genetic Health is proudly part of the MCRI I Through the new management structure of Genetic

embraces these my

mentors

challenges with Professor

Bob

outstanding contributions to Genetic Health over including Bill Hodgson from our Board and Rosemary

Health, the younger consultants and genetic

Lester (DHS). The retreat achieved a strong strategic

counsellors have been initiated into management

direction and the outcomes were reported separately

roles and a forum was created for the scientists and

and distributed to all our stakeholders. Associate Professor Agnes Bankier Director, Genetic Health Services Victoria

V

ANNUAL REPORT 2001

77


Genetic Health Clinical Services

,3

Neurogenetics Program

Perinatal and Paediatric Genetics

Clinical Metabolic Services

Genetic Fiealth continues to provide diagnostic and

We provide diagnostic and therapeutic advice and

General neurogenetic clinics are conducted at RMH,

counselling services to couples having children

management for patients with a wide range of

The Alfred, MMC, St Vincent's and the Austin and

through clinics at RWFI, MHW, MMC and RCFI. We

inborn errors of metabolism. There is an increase in

Repatriation Medical Centre with neurologists. Two

also provide genetic advice to both Melbourne IVF and

the number of patients whose management is

multidisciplinary clinics are the neurofibromatosis

Monash IVF services. The team has expertise in the

shared with other disciplines such as Neurology and

clinic at the RCH, and a Friedreich ataxia clinic at

diagnosis of children with birth defects, chromosomal

other centres. With better control, the number of

MMC held in conjunction with the Monash Institute

anomalies and metabolic and skeletal disorders.

acute admissions has decreased, but 1-2 day

for Neurological Disease (MIND) - this is the first

admissions for diagnostic purposes have increased.

specific Friedreich ataxia clinic in the world. Ros Tassicker, Predictive Testing Counsellor, now sees

Bone Dysplasia Program

clients at both RCFI and MMC.

Inherited disorders of bone and cartilage represent

Community Screening Programs

a significant burden of disease and disability to the

Tay Sachs Disease Prevention Program in the past

community. We established the Southern Cross

five years and has tested almost 1000 high risk

Bone Dysplasia Centre, a referral centre for

Ashkenazi Jewish people. Year 11 students at

Family cancer centres have dedicated funding from

Familial Cancer Service

diagnosis and management of skeletal dysplasias,

Jewish day schools receive education about the

the DFIS. Our Familial Cancer Service provides

which receives referrals from around Australia, New

disease and are offered the opportunity to have

genetic counselling, psychological support and

Zealand and abroad.

Multi-disciplinary bone

carrier testing. The program is funded by generous

genetic testing to people who are concerned about

dysplasia clinics are conducted at RCFI, MMC, non­

sponsorship from the Pratt Foundation, Mayne

their risk of developing cancer because of their

metropolitan clinics, and in Tasmania, South

Fiealth Dorevitch Pathology and anonymous donors.

family history of cancer. Genetic Fiealth also conducts clinics at non-metropolitan sites with

Australia and Auckland. Flaemscreen is a pilot project aimed at assessing the

cancer specialists. Our staff is also actively involved

feasibility of genetic screening for the preventable

in Familial Cancer Clinics at RMFI, MMC, and Peter

disease haemochromatosis - a disease due to excess

MacCallum Cancer Institute and in Tasmania.

iron in the body and can lead to liver and heart disease among others. This project is being

Genetic Health Clinics

undertaken by staff from Genetic Fiealth in

Geneticists, Genetic Counsellors and Social Workers

collaboration with MCRI and generously funded by

conduct the clinics at multiple sites. There are

the DHS.

permanent offices and shared genetic services at the following hospitals, where several clinics are conducted each week.

ANNUAL REPORT 2001

78


The Royal Children's Hospital and

The unit moved into new rooms allowing a 40%

The number of patients seen at the non­

management of genetic conditions, ongoing

expansion of the service, which is involved in a

metropolitan clinics continues to increase. This is

education and teaching of health professionals and

broad range of genetic services including the

partly due to the strong relationships with the local

counselling and social support of patients and

We

provide

comprehensive

Southern Health Services diagnosis

Molecular Pre-Implantation Genetic Diagnosis

paediatricians, GPs and other medical specialists

families. In addition to genetic and metabolic

(PGD) program for the state, in collaboration with

over many years of service. In addition, the staff

clinics, there are multi-disciplinary clinics with RCH

Monash IVF. In 2001 the first babies were born to

involved with the clinics has given numerous talks

specialists in neurogenetics, oncology, skin, eye and

couples involved in this program.

and seminars to local health professionals and

craniofacial units.

members of the public to raise awareness of the Melbourne Health

services within the local communities.

The Royal Women's Hospital

Genetic Health participates in the RMH Family

We provide genetic counselling, grief counselling

Cancer Centre and in the development of adult

Genetic Clinics are also conducted on a monthly

and specialised prenatal diagnosis. We have

genetic

basis at the Austin, the Alfred, Box-Hill, St Vincent's

strengthened the links with multi-disciplinary clinics

education at the RMH.

services

and

post-graduate

genetic

ir> UJ

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> £ < y z

and John Fawkner Hospitals.

of perinatal medicine and the fetal management, clinics with genetics staff concentrating on specific

Non-Metropolitan Outreach Clinics

genetic diagnosis and counselling issues and

The Genetic Health network of outreach clinics

X

general support and grief counselling by the

continued to grow this year. In addition to clinics at

< LJJ

genetic counsellors.

Ballarat,

y

Bendigo,

Shepparton,

Frankston,

Traralgon,

u t: X

Geelong, Sale, Warragul

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and

We have been actively involved in the planning of a

Warrnambool, and now in Mildura. The clinics are

new booking clinic - preparing women for the range

conducted once every two to three months in each

of genetic screening that is now available - and the

centre. Patients attending the clinics continue to

thalassaemia clinic is now formed as a multi­

report their satisfaction with the services, as they

disciplinary clinic of haematologist, paediatrician,

are glad they no longer need to travel long

obstetric specialist, geneticist and genetic counsellor.

distances to access.

O

ANNUAL REPORT 2001

79

It


Laboratory Services Biochemical Genetics Laboratories Maternal Serum Screening The number of women undergoing either first or second trimester screening for Down syndrome has continued to steadily grow during 2001. The year has seen an enhancement of the first trimester combined screening service with strong interaction between ultrasound practices, and an increasing number of obstetricians and antenatal services

with inborn errors of metabolism. These disorders

chromosome

usually disrupt an enzyme involved in the breakdown

gynaecology, male infertility, IVF, neonatal medicine,

This laboratory tests approximately 65,000 babies each year for phenylketonuria (PKU), congenital hypothyroidism and cystic fibrosis. Early recognition of these conditions is important as effective therapies are available that can greatly improve the quality of life for these children. With funding from the DHS, an expanded newborn-screening program using a tandem mass spectrometer (TMS) has been introduced. The value of the expanded program has been demonstrated by the finding of an additional 3 children with metabolic conditions (including 2

Metabolic Screening This laboratory provides a comprehensive, statewide service for the diagnosis and monitoring of patients

prenatal

diagnosis,

paediatrics, neurology, oncology and toxicity testing.

accumulation of metabolic intermediates in blood and

The laboratory is essentially self-funding, raising its

urine. Samples from patients exhibiting symptoms that

revenue from Medicare, hospital and private billing,

might indicate an inborn error of metabolism are

from Victoria and Tasmania. Two successful initiatives

tested for a wide variety of metabolites such as amino

have been the rapid interphase testing for prenatal

acids, organic acids and carnitine derivatives. We also

diagnosis and the development of a BAC FISH probe

test post-mortem samples from children who have

facility using the BAC library maintained at MCRI.

died unexpectedly. Molecular Genetics Laboratory Mitochondrial Diagnostic Laboratory

We provide state-of-the-art genetic testing to all of

Mitochondria are our cellular power plants that

Victoria and Tasmania, performing more than

burn fuel (sugar, fat and protein) to generate an

10,000 genetic tests per year. We offer diagnostic

energy carrier known as ATP. Several hundred

testing of more than 30 different genetic disorders,

different

normal

as well as providing carrier testing, predictive

mitochondrial function, so it is perhaps not

testing and prenatal diagnoses in partnership with

surprising that mitochondrial disorders are now

the clinical team whom provide genetic counselling

recognised as one of the most common inborn

to the families. New "Real Time PCR" technology

errors of metabolism, affecting approximately 1:5,000 births. Because of the genetic complexity,

families with familial colon cancer (FAR and

measurement of mitochondrial respiratory chain

HNPCC). We have also successfully introduced the

enzymes remains the mainstay of diagnostic

following: Hi-throughput molecular genotyping for

methods internationally.

population studies of haemochromatosis; new

genes

are

required

for

has allowed for screening of gene deletions in

genetic testing services for patients with bone and

with MCAD deficiency) that would not have previously been detected in the past year.

for

of protein, fat or carbohydrate and result in the

offering combined screening to pregnant women. Newborn Screening

tests

Cytogenetics and Molecular Diagnostics

collagen

disorders;

and

early

blood

group

genotyping (14-week gestation) in pregnancies at Cytogenetics Laboratory

risk of haemolytic disease.

This is now the largest cytogenetics laboratory in Australasia providing a comprehensive range of

ANNUAL REPORT 2001

80


Education, Training & Research Clinical Genetics Fellows

Research

Genetic Health trains up to five doctors each year.

Negotiations continue with the USA, to enable

Training in genetics is a 3 year program supervised

students trained in the Graduate Diploma to sit for

clinical genetic research, having been the statewide

by the Royal Australasian College of Physicians for

the

genetic

service for 35 years. Support, consolidation and

the Human Genetics Society of Australasia (HGSA).

counsellors in the USA. Trainees gain the title of

expansion of research are integral to a quality

A six-month training opportunity is also available to

Associate Genetic Counsellor at the successful

genetic service and will continue to be our priority.

completion of the one-year course. Advanced

Our scientists and clinical staff are involved in many

paediatric and other postgraduate trainees.

accreditation

Board

exams for

Genetic Health is in a unique position to advance

training and supervision is offered to Associate

research projects including many MCRI theme

Genetic Counselling

Genetic Counsellors employed by Genetic Health,

grants, but much more needs to be done.

MCRI and Genetic Health, through the University of

under the auspices of the HGSA.

Melbourne, have offered the Graduate Diploma in

Research projects in 2001: X

Genetic Counselling since 1996. The Diploma

A Masters program in genetic counselling is also

• Bone Dysplasia theme grant

course, which continues to grow and gain

now available - projects include:

• HaemScreen

recognition nationally and internationally, trains

• Supervision of Masters of Health Sciences

• Tay Sachs Disease prevention program

interstate and overseas students. A link with the

(Genetic Counselling) students (Bone Dysplasia

• Friedreich Ataxia research

University of Manchester (UK) was established in

Theme Grant, Intersex Theme Grant)

• A randomised trial of a decision aid for women at

2001 to facilitate exchange between students and in the future staff.

• Huntington Disease Predictive Testing Counselling Evaluation (in conjunction with the Social Work

u

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risk for ovarian cancer

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• Microarray Facility theme grant

Practice Research Unit) • Quality of Life study on children and families with

u

galactosemia, which has been funded through an

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AHN seed grant Postgraduate education Genetic Health participates in genetic post­ graduate education together with the MCRI Education Unit.

I

ANNUAL REPORT 2001

81


J

aiGenetic Health Staff List Chairman Professor Robert Williamson FRS FAA Director A/Professor Agnes Bankier Chief Operating Officer Anne Cronin Ciinicai Geneticists

■i

Li

Dr David Amor Dr Jan Craig Dr Martin Delatycki Dr Stephen Kahler Dr Mac Gardner Dr Maurizio Genuardi Dr John Rogers A/Professor Ravi Savarirayan A/Professor Les Sheffield Dr Sue White Metabolic Physician Dr Avihu Boneh

Jacqualine Greenberg Tarli Hall Anna Henry Ivan Macciocca Julie McChristie Michelle Mourik Vicky Petrou Anne Robertson Edi Sheffield Alison Thornton Mary-Anne Young

Senior Social Worker Margaret Sahhar Social Workers Caroline Lambert Ros Tassicker

Dr Clara Gaff Lisa Gordon Margaret Ross Linda Warwick Associate Genetic Counsellors Sonja Bacic Dr Jo Burke Lisette Curnow Susan Fawcett Lara Fitzgerald

Non-Metropolitan Clinics Ivan Macciocca

Robin Forbes

Tasmanian Service - Dr David Amor Metabolic Services - Dr Avihu Boneh RCH Cancer Sen/ice - Dr Clara Gaff RMH - Dr Clara Gaff The Alfred - A/Prof Ravi Savarirayan Neurogenetic Service - Dr Martin Delatycki

Metabolic Dietitian Dorothy Francis

Cytogenetics Laboratory Management Group

Metabolic Nurse Helen Upton

Dr Howard Slater Jacinta Ryan Mark Fertile

Maternal Serum Screening/ Quality Assurance Officer

Administration Services Manager

Quality Assurance

Margaret Harris

Anne Robertson

Personal Assistant to Director Lisa Macready Dominique Speirani

Administration Bo Jezierski Mariah Everard

Clinic Coordinators

CVS/Tissues Section Leaders

Debbie Davis Michelle Francazio Sue Hilton Sharon Vandersluis

Team Leaders Alison Blackstock Fiona Norris Ralph Oertel Louise Hills Sara Nourri Bruce Mercer Vida Petrovic Melissa Curtis Scientists

Heads of Units RCH - A/Prof Ravi Savarirayan RWH - A/Prof Les Sheffield Southern Health - Dr Martin Delatycki Southern Health - A/Prof Agnes Bankier

Dr Samantha Wake Program Coordinator

Genetic Counsellors

kConFab Janine Furmedge

Tasmanian Service - Dr Martin Delatycki

Dr Robert Boyle Dr Michael Fahey Dr Sharon Keeling Dr Omar Khwaja Dr George McGillivray Dr Julie Panetta Dr Sue White Dr Gisela Wilcox

Dr Catherine Rose

Vicky Hannan Liz Kanellos Kathy MacDonald Maureen Ralph Dr Bev Warner Jo Wells

Principal Genetic Counsellor/ Privacy Officer

Clinical Genetics Fellows

POSSUM Project

Administrative Support

Kathy Butler Dr Lorna Webber David Francis Trent Burgess

Julie Hammer Vlad Pupko Lynne Ryan Tracy Fleming Selga Cirilis Jacquie Challis Nancy Garavelas Lisa DiPrinzio Dr Tie Lan Han Marie Thorpe Sylvea Corrie Amber Boys Helen Jackson Con Ngo Paul Yao Michael Cronin Jo Kelley Olivia Giouzeppos Wendy Francis David Jones Technologists lan Brooks Alan Correl Lynda Phillips Wali Drummond Newborn Screening Ivan Francis - Scientist-in-Charge Nick Tzanakos - Senior Scientist Thanh Vo - Medical Scientist Irene Aslanidis - Medical Scientist Nella Napolitano - Medical Scientist Judy Bailey - Education Officer

Maternal Serum Screening Ivan Francis - 5cientist-in-Charge Leonard Bonacquisto - Medical Scientist Larissa Katsman - Medical Scientist Gregoria Luma - Medical Scientist Jo Wells - Phlebotomist Patricia Snell - Laboratory Assistant Olivia Motion - Laboratory Assistant Sara Grant - Clerical Assistant Caroline Cittarelli - Clerical Assistant Mitochondrial Diagnostic Laboratory Dr David Thorburn - Laboratory Head Denise Kirby - Research Officer Taryn Charles - Research Assistant Erin Oldaker - Quality Officer

Molecular Genetics Laboratory (DNA Diagnostics) Dr Desiree du Sart - Laboratory Head Scientists Steve Nasloulas Melanie Smith Karina Forshaw Janet Shaw Shannon Cowie Narelle Tunstall Ellen Craig Sarah-Jane Pantelo Dean Phelan Vanessa Calabro Tom Milovac - Laboratory Technician Gordana Ukalovic - Laboratory Trainee GSNV Caroline Bowditch Eilis Hughes

Metabolic Screening James Pitt - Senior Scientist Mary Eggington - Scientist Mona Lumani - Scientist

ANNUAL REPORT 2001

82


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Publications 2001 :1,

Abrams D, Derrick G, Penny DJ, Shinebourne EA and Redington AN. Cardiac complications in children following infection with varicella zoster virus. Cardiology in the Young (in press)

''!'

Aitken M, Scavone M and Williamson R. Genetic medicine - what do pharmacists want to know? Australian Pharmacist 20: 754 (2001)

1'

Akikusa JD and Kemp AS. Clinical correlates of response to pneumococcal immunisation. Journal of Paediatrics and Child Health 37: 382-387 (2001)

I,.

Aldred M, Rajakuman SA, Zacharin M and Trembarth R. Detection of McCune Albright syndrome mutations in lymphocyte DNA using PNA clamping. Journal of Clinical Endocrinology and Metabolism (in press)

applications. Australian Family Physician 30; 953-958 (2001) Amor DJ and Craig JE. Situs inverus and congenital hypoglossia. Clinical Dysmorphology 10: 47-50 (2001) Anderson P, Anderson V and Garth J. Assessment and development of organizational ability: The Rey Complex Figure Organizational Strategy Score (RCF-OSS). The Clinical Neuropsychologist 15; 81-94 (2001) Anderson P, Anderson V, Northam E and Taylor HG. Standardization of the Contingency Naming Test (CNT) for school-aged children: a measure of reactive flexibility. Clinical Neuropsychological Assessment 1: 247-273 (2001)

Aldred MJ, Savarirayan R, Lamande SR and Crawford PJM. Clinical and radiographic features of a family with autosomal dominant amelogenesis imperfecta with taurodontism. Oral Diseases (in press)

Anderson V, Anderson P, Northam E, Jacobs R and Catroppa C. Development of executive functions through late childhood and adolescence in an Australian sample. Developmental Neuropsychology 20: 385-406 (2001)

Alexander S, Molony L and Kilpatrick N. Endodontic management of a patient with X-linked hypophosphatamic rickets. Australian Endodontic Journal 22: 57-61 (2001)

Anderson V, Catroppa C, Haritou F, Morse S, Pentland L, Rosenfeld J and Stargatt R. Predictors of acute child and family outcome following traumatic brain injury in children. Pediatric Neurosurgery 34: 138-148 (2001)

Al-Hasani K, Rajakumar K, Bulach D, Robins-Browne R, Adler B and Sakellaris H. Genetic organization of the she pathogenecity island in Shigella flexneri. Microbial Pathogenesis 30: 1-8 (2001)

Anderson V, Catroppa C, Morse S, Haritou F and Rosenfeld J. Long-term outcome from mild head injury in young children: a prospective study. Journal of Clinical and Experimental Neuropsychology (in press)

Amor D and Savarirayan R. Intermediate form of Ablepharon-Macrostomia syndrome with CNW abnormalities. American Journal of Medical Genetics 103:252-254 (2001)

Anderson V, Northam E, Hendy J and Wrennall J. Developmental Neuropsychology: A Clinical Approach. Eribaum: East Sussex (2001)

Amor DJ, Craig JE, Delatycki MB and Reddihough DS. Genetic factors in athetoid cerebral palsy. Journal of Child Neurology 16(11): 793-797 (2001) Amor DJ, Delatycki MB, Gardner RJM and Storey E. A new variant of familial cerebellar ataxia and hypergonadotropic hypogonadism. American Journal of Medical Genetics 99: 29-33 (2001) Amor DJ, Tudball C, McKindlay Gardner RJ, Lamande SR, Bateman JF and Savarirayan R. Familial digital arthropathy-brachydactyly. American Journal of Medical Genetics (in press) Amor DJ. Familial cancers: an overview. Australian Family Physician 30: 937-945 (2001) Amor DJ. Gene therapy: principles and potential

Apostolopoulos J, Kirkland M, McLeod J, Gregorio-King C, Slater H, Ngo C and Sparrow R. Identification and characterisation of a novel family of mammalian Ependymin related proteins (MERPs) in haematopoietic, non-haematopoietic and malignant tissues. DNA and Cell Biology 20(10): 625-635 (2001) Ashley DM, Riffkin CD, Gray AZ, Hawkins CJ and Chow CJ. Ex vivo pediatric high grade brain tumours express Fas (CD95) and FasL (CD95L) and are resistant to apoptosis induction. Neuro-Oncology 3:4: 229-240 (2001) Ashley DM, Strother D, Kellie SJ and Patel A. Feasibility of four consecutive high-dose chemotherapy cycles with stem-cell rescue for patients with newly diagnosed medulloblastoma or supratentorial PNET after craniospinal radiotherapy: results of a collaborative study. Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology, and Endodontics 19: 2696-2704 (2001)

Ashley DM. A Phase II study of carboplatin in children with progressive low-grade gliomas. Journal of Clinical Oncology (in press) Bamberg J, Toumbourou JW, Blyth A and Forer D. Profiling changes for families in the BEST program for parents coping with youth substance abuse. Australian and New Zealand Journal of Family Therapy 22; 189-198 (2001) Bandyopadhyay R, Berend SA. Page SL, Choo KHA and Shaffer LG. Satellite 111 sequences on 14p and their relevance to Robertsonian translocation formation. Chromosome Research 9: 235- 242 (2001)

and Marshall JA. Simultaneous isolation of verotoxinproducing strains of Escherichia coli 0128:H2 and viruses in gastroenteritis outbreaks. Comparative Immunology, Microbiology and Infectious Diseases 24(2): 135-142 (2001) Bettelheim KA, Bowden DS, Doultree JC, Catton MG, Chibo D, Ryan NJ, Wright PJ, Gunesekere 1C, Griffith JM, Lightfoot D, Hogg GG, Bennett-Wood V and Marshall JA. Combined infection of Norwalk-like virus and verotoxin-producing bacteria associated with a gastroenteritis outbreak. Journal of Diarrhoeal Disease Research 17(1): 34-36 (2001)

Bandyopadhyay R, McQuillan CR, Page SL, Choo KHA and Shaffer LG. Identification and characterisation of satellite III subfamilies to the acrocentric chromosomes. Chromosome Research 9: 223- 233 (2001)

Bishop RF, Masendycz PJ, Bugg HC, Carlin JB and Barnes GL. Epidemiological patterns of rotaviruses causing severe gastroenteritis in young children throughout Australia from 1993 to 1996. Journal of Clinical Microbiology 39 (3): 1085-1091 (2001)

Bartlett JE, Temelcos C, Washburn T, Eddy EM, Korach KS and Hutson JM. Early development of the gubernaculum and cremaster in estrogen receptor knockout mice. Urological Research 29; 163-167 (2001)

Bond L, Carlin JB. Thomas L, Rubin K and Patton G. Does bullying cause emotional problems? A prospective study of young teenagers. British Medical Journal 323: 480-484 (2001)

Bassal S, Nomura N, Venter DJ, McKay MJ and van der Spek PJ. Characterization of a novel human cell cycle regulated homologue of Drosophila digl. Genomics 77; 5-7 (2001)

Bond L, Davie G, Carlin J, Lester R and Nolan T. Increases in vaccination coverage for children in childcare between 1997 to 2000: an evaluation of the impact of government incentives and initiatives. The Australian and New Zealand Journal of Public Health (in press)

Batch JA, Couper JJ, Rodda C, Zacharin M and Cowell CT. The use of bisphosphonate therapy for osteoporosis in childhood and adolescence; a position paper of the Australian Paediatric Endocrine Group. Medical Journal of Australia (in press)

Bond L, Glover S, Godfrey C, Butler H and Patton GC. Building capacity for system-level change in schools: Lessons from the Gatehouse Project. Health Education and Behavior 28: 368-383 (2001)

Bateman JF. Protein truncation test. Wiley Encyclopedia of Molecular Medicine (in press) Bateman JF. The molecular genetics of inherited cartilage disease. Osteoarthritis and Cartilage 9; 141-149 (2001) Berg RA, Cobb LA, Doherty A Kinney S et al. Chest compressions and basic life support - defibrillation. Annals of Emergency Medicine 37(4): 26-26 (2001) Bergman P, Auldist A and Cameron FJ. Recent experience with Graves disease. Journal of Paediatrics and Child Health 37: 176-182 (2001) Berkowitz RG, Bankier A, Moxham JP and Gardner RJM. Chromosomal abnormalities in idiopathic congenital bilateral vocal cord paralysis. The Annals of Otology, Rhinology, and Laryngology 110; 624-626 (2001) Bettelheim KA, Bennett-Wood V, Lightfoot D, Wright PJ

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Boneh A, Auldist A, Francis D, Casanelia S, Warwick L and Tiedemann K. Splenectomy in Glycogen Storage Disease type 1b. Journal of Inherited Metabolic Disease 24; 419-422 (2001) Bonomo Y and Bowes G. Putting harm reduction into an adolescent context. Journal of Paediatrics and Child Health 37: 5-8 (2001) Bonomo Y and Sawyer SM. How to motivate and counsel adolescents. Medicine Today 1: 69-75(2001) Bonomo Y, Coffey C, Wolfe R, Lynskey M and Bowes G. Adverse outcomes of alcohol use in adolescents. Addiction 96: 1485-1496(2001) Booth M, Wake M, Armstrong T, Chey T, Hesketh K and Mathur S. The epidemiology of overweight and obesity among Australian children and adolescents, 1995-1997. The Australian and New Zealand Journal of Public Health

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25; 162-169 (2001) Bornstein P, Walsh V, Tuliis J, Stainbrook E, Bateman JF and Hormuzdi SG. The globular domain of the proalpha 1(0 N-propeptide is not required for secretion, processing by procollagen N-proteinase, or fibrillogenesis of type I collagen. Journal of Biological Chemistry (in press)

Copolov D and McGorry P. Stability of olfactory identification deficits in neuroleptic-naive patients with first-episode psychosis, American Journal of Psychiatry 158; 107-115(2001) Brown K, Shekerdemian L, Goldman A and Penny DJ. Transcatheter closure of the arterial duct in the setting of veno-arterial ECMO. Intensive Care Medicine (in press)

Borradori C, Zimine S, Lazeyras F, Warfield S, Inder TE, Huppi PS and Voipe JJ. Intrauterine growth restriction ; a 3D MRI and neurobehavioural study. Pediatric Research 49(4): 430A (2001)

Brown KL, Ridout DA, Goldman AP, Hoskote A and Penny DJ. Risk factors for long ICU stay after cardiopulmonary bypass in children. Critical Care Medicine (in press)

Borton DC, Walker K, Pirpiris M, Nattrass GR and Graham HK. Isolated calf lengthening in cerebral palsy; outcome analysis of risk factors. Nature 83(B): 364-370 (2001)

Bryant P, Sasadeusz J, Carapetis JR, Waters K and Curtis N. Successful treatment of foscarnet-resistant herpes simplex stomatitis with intravenous cidofovir in a child. Pediatric Infectious Diseases 20: 1083-1086 (2001)

Bouchard L, Robert M-F, Vinarov D, Stanley CA, Thompson GN, Morris A, Leonard JV, Quant R Hsu BYL, Boneh A, Boukaftane Y, Ashmarina L, Wang S, Miziorko H and Mitchell GA. Mitochondrial 3-hydroxy-3methylglutaryl-CoA synthase deficiency: clinical course and description of causal mutations in the two known patients. Paediatrics 49; 326-331 (2001)

Bucknall T, Copnell B, Shannon K and McKinley D. Evidence-based practice: are critical care nurses ready for it? Australian Critical Care 14(3): 92-98 (2001)

Bouras T, Southey MC and Venter DJ. Overexpression of the steroid receptor coactivator AIB1 in breast cancer correlates with the absence of estrogen and progesterone receptors and high levels of p53 and HER2/neu. Cancer Research 61(3); 903-907 (2001) Boyd RN and Hays RM. Current evidence for the use of botulinum toxin type A in the management of children with cerebral palsy: a systematic review. European Journal of Neurology 8(5): 1-20 (2001) Boyd RN and Hays RM. Outcome measurement of effectiveness of botulinum toxin type A in children with cerebral palsy: an ICIDH-2 approach. European Journal of Neurology 8(5): 167-177 (2001) Boyd RN, Dobson F, Parrott J, Love S, Oates J, Larson A. Burchall G, Chondros R Carlin J, Nattrass G and Graham HK. The effect of botulinum toxin type A and a variable hip abduction orthosis on gross motor function: a randomized controlled trial. European Journal of Neurology 8(5): 109-119(2001) Boyd RN, Morris ME and Graham HK. Management of upper limb dysfunction in children with cerebral palsy: a systematic review. European Journal of Neurology 8(5): 150-166 (2001) Brewer W, Pantelis C, Anderson V, Velakoulis D, Singh B,

Butler H, Bond L, Glover S and Patton G. The Gatehouse Project; mental health promotion incorporating school organisational change and health education. In: Rowling L, Martin G and Walker L (eds). Mental Health Promotion and Young People; Concepts and Practice. McGraw Hill; Roseville (2001) Callaghan S, Copnell B and Johnston L. Comparison of two methods of peripheral intravenous cannula securement in the paediatric setting. Journal of Infusion Nursing (in press) Cameron F and Werther GA. Adolescents with Diabetes Mellitus. In: Menon R and Sperling M (eds). Pediatric Diabetes. Kluwer Academic Publishers: New York (2001) Cameron F and Werther GA. The Adolescent with type 1 Diabetes. In: Sperling M (ed). Type 1 Diabetes: Etiology and Treatment. Humana Press: New York (2001) Cameron FJ and White C. The embryology of the genital tract: Molecular Genetics of Gonadal Development. In; Balen (ed). The Multidisciplinary Approach to the management of Paediatric and Adolescent Gynaecology. Cambridge University Press: Cambridge (in press) Cameron FJ. Thyroid Disorders In Childhood and Adolescence. In; Roberton D and Robinson M (eds). Practical Paediatrics 5th Edition. Harcourt Publishers Limited: Kent UK (in press) Campbell K, Waters E, O'Meara S and Summerbell C. Interventions for preventing obesity in children. Cochrane Database of Systematic Reviews 2(3): 149-157 (2001)

Campos-Xavier AB, Saraiva JM, Savarirayan R, Verloes A, Feingold J, Faivre L, Munnich A, Le Merrer M and Cormier-Daire V. Phenotypic variability at the TGF6-1 locus in Camurati-Engelmann disease. Human Genetics 109; 653-658 (2001) Carapetis JR and Currie BJ. Rheumatic fever in a highincidence population; the importance of monarthritis and low-grade fever. Archives of Disease in Childhood 85; 223-227 (2001) Carapetis JR, Curtis N and Royle J. True anaphylaxis to MMR vaccine is extremely rare (letter). British Medical Journal 323: 869-869 (2001) Carapetis JR, Jaquiery AL, Buttery JA, Starr M and Cranswick NE, A randomised,controlled trial of oncedaily gentamicin in children with urinary tract infections. Pediatric Infectious Diseases 20 (3): 240-246 (2001) Carlin JB and Doyle LW. Statistics for clinicians 4: Basic concepts of statistical reasoning - hypothesis tests and the t-test. Journal of Paediatrics and Child Health 37: 72-77 (2001) Carlin JB and Doyle LW. Statistics for clinicians 5; Comparing proportions using the chi-squared test. Journal of Paediatrics and Child Health 37: 392-394 (2001) Carlin JB, Wolfe R, Brown CH and Gelman A. A case study on the choice, interpretation and checking of multilevel models for longitudinal binary outcomes. Biostatistics 2: 387-416 (2001) Carr A, Morey A, Mallon R Williams D and Thorburn DR. Non-cirrhotic portal hypertension, chronic liver failure, and persistent mitochondrial dysfunction two years after acute hepatitis and lactic acidaemia induced by HIV nucleoside analogue therapy. Lancet 357: 1412-1414 (2001) Catroppa C and Anderson V. Recovery in memory function in the first year following TBI in children. Brain Injury (in press) Chalkiadis G, Management of chronic pain in children. Medical Journal of Australia 175: 476-479 (2001) Chang AB, Phelan PD, Robertson CF, Newman RG and Sawyer SM. Frequency and perception of cough severity. Journal of Paediatrics and Child Health 37: 142-145 (2001) Chen Y, Waters E and Green J. Pertussis incidence, DTP vaccination and socio-economic deprivation in children

aged 0-4 years in Victoria, 1993-1997. The Australian and New Zealand Journal of Public Health (in press) Cheung KM, Oliver MR, Cameron DJS, Chow CW and Catto-Smith AG. Oesophageal eosinophilia in children with dysphagia. Journal of Pediatric Gastroenterology and Clinical Nutrition (in press) Cheung MM, Davis AM, Cohen RJ and Wilkinson JL T wave alternans threshold in normal children. Journal of Cardiovascular Electrophysiology 12; 424-427 (2001) Choo KHA. Engineering human chromosomes for gene therapy studies. Trends in Molecular Medicine 7: 235237 (2001)

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Choo KHA. Domain organization at the centromere and neocentromere. Developmental Cell 1: 165-177 (2001)

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Christie DJF, Coleman DJ, Wan X, Jacobs MA and Carapetis JR. Childhood invasive pneumococcal disease in Tasmania, 1994-2000. Journal of Paediatrics and Child Health (in press) Christodoulou K, Deymeer F, Serdaroglu R Ozdemir C, Poda M, Georgiou DM, loannou R Tsingis M, Zamba E and Middleton LT. Mapping of the second Friedreich's ataxia (FRDA2) locus to chromosome 9p23-p11: evidence for further locus heterogeneity. Neurogenetics 3: 127-132 (2001) Coffey C, Carlin JB, Degenhardt L, Lynskey M, Sanci L and Patton GC. Cannabis dependence in young adults: an Australian population study. Addiction (in press) Coghlan D and Cranswick NE. Lessons from practice; complementary medicine and vitamin A toxicity in children. Medical Journal of Australia 175; 24-223 (2001) Collins V, Halliday J, Kahler S and Williamson R. Parents’ experience with genetic counselling after the birth of a baby with a genetic disorder: an exploratory study. Journal of Genetic Counselling 10(1): 53-72 (2001)

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Connelly JF, CoakleyJC, Gold H, Francis I, Mathur KS, Rickards AL, Price GJ, Halliday JL and Wolfe R. Newborn screening for congenital hypothyroidism. Paper 1: the screening program, demography, baseline demographic data and diagnostic classification. Paediatric Endocrinology and Metabolism 14: 1597-1610(2001)

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Connelly JF, Rickards AL, Coakley JC, Glynis JR Francis IF, Mathur KS and Wolfe R. Newborn Screening for Congenital Hypothyroidism, Victoria, Australia, 19771997. Part 2; treatment progress and outcome. Journal of Pediatric Endocrinology and Metabolism 14: 1611-

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1634 (2001) Connelly JF, Rickards AL, Price GJ, Coakley JC, Gold H, Halliday J, Wolfe R, Francis I and Mathur KS. Newborn screening for congenital hypothyroidism, Victoria, Australia, 1977-1997. Part 1: the screening programme, demography, baseline perinatal data and diagnostic classification. Journal of Pediatric Endocrinology and Metabolism 14: 1597-1610(2001) Cormier-Daire V, Savarirayan R, Lachman RS, Neidich JA, Grace K, Rimoin DL and Wilcox WR. "Baby Rattle" Pelvis Dysplasia. American Journal of Medical Genetics 100: 3742 (2001) Cormier-Daire V, Savarirayan R, Unger S, Rimoin DL and Lachman RS. "Duplicate calcaneus": a rare developmental defect observed in several skeletal dysplasias. Paediatric Radiology 31: 38-42 (2001) Cover TC and Robins-Browne RM. Yersinia enterocolitica. In: Blaser MJ, Smith PD, Ravdin Jl, Greenberg HB and Guerrant RL (eds). Infections of the gastrointestinal tract 2nd edition. Raven Press: New York (in press) Cranswick NE and McGilvray G. Over-the-counter medication in children: friend or foe? Australian Prescriber 24 (6): 151-153 (2001) Cunliffe N, Gondwe J, Kirkwood C, Graham S, Nhlane N, Molyneaux M and Hart C. Effect of concomitant HIV infection on presentation and outcome of rotavirus gastroenteritis in Malawian children. The Lancet 338: 550-555 (2001) Dabaghdao P, Vidmar S and Cameron FJ. Deteriorating diabetic control through adolescence-do the origins lie in childhood? Diabetes Medicine 18 (11): 889-894 (2001) Dahl HHM and Thorburn DR. Mitochondrial diseases: beyond the magic circle. American Journal of Medical Genetics 106: 1-3 (2001) Dahl HHM and Thorburn DR. Seminars in medical genetics: mitochondrial diseases. American Journal of Medical Genetics 106: 1-114(2001) Dahl HHM, Saunders K. Kelly TM, Osborn AH, Wilcox S, Cone-Wesson B, Wunderlich JL, du Sart D, Kamarinos M, McKinlay Gardner RJ, Dennehy S, Williamson R, Vailance N and Mutton P. Prevalence and nature of connexin 26 mutations in children with non-syndromic deafness. Medical Journal of Australia 175: 191-194 (2001) Daniel A, Wu Z, Bennetts B, Slater H, Osborn R, Nelson J, Watson G, Cooke-Yarborough C and Loo C.

Karyotype, Phenotype and parental origin in 19 cases of triploidy. Prenatal Diagnosis 21: 1034-1048 (2001) Dargaville PA, Mills JF and Soil RF. Therapeutic lung lavage for meconium aspiration syndrome in new born infants.(Cochrane Protocol). In: The Cochrane Library (in press) Dargaville PA, South M and McDougall PN. Surfactant and surfactant inhibitors in meconium aspiration sydrome. Journal of Pediatrics 138: 113-115 (2001) Davidson AJ, McCann ME, Devavaram P, Auble SA, Sullivan U, Gillis JM and Laussen PC. The differences in the bispectral index between infants and children during emergence from anaesthesia after circumcision surgery. Anesthesia and Analgesia 93(2): 326-330 (2001) de Vries BBA, White SM, Knight SU, Regan R, Homfray T, Young ID, Super M, McKeown C, Splitt M, Quarrell OWJ, Trainer AH, Niermeijer MF, Malcolm S, Flint J, Hurst JA and Winter RM. Clinical studies on submicroscopic subtelomeric rearrangements: a checklist. Journal of Medical Genetics 38: 145-150 (2001) Delatycki MB and Tassicker R. Predictive genetic testing for adult onset neurological disorders. Australian Family Physician 30: 948-952 (2001) Delatycki MB. Genetic Counselling. In: Robinson and Roberton (eds). Practical Paediatrics 5th Edition. Churchill Livingstone: Edinburgh (in press) Di Pilla N, Yap T, Hrabovszky Z, Farmer PJ and Hutson JM. Enlargement of the processus vaginalis during testicular descent in rats. Pediatric Surgery International 17: 312-315 (2001) Duke T, Mgone J and Frank D, Hypoxaemia in children with severe pneumonia in Papua New Guinea. International Journal of Tuberculosis and Lung Disease 5(6): 511-519 (2001) Easton-Carter KL, Hardikar W and Smith AL. Possible roxithromycin induced fulminant hepatic failure in a paediatric patient. Pharmacotherapy 21: 867-870 (2001) Edmondson SR, Werther GA and Wraight CJ. Calcium induced differentiation of HaCaT keratinocytes is associated with a reduction of insulin-like growth factor binding protein-3. Journal of Investigative Dermatology 116: 491-497 (2001) Edmondson SR, Werther GA and Wraight CJ. Calcium regulates the expression of insulin-like growth factor binding protein-3 by the human keratinocyte cell line HaCaT. Journal of Investigative Dermatology 116: 491-

497 (2001) Edmunds L, Waters E and Elliott EJ. Evidence based paediatrics: evidence based management of childhood obesity, British Medical Journal 323: 916-919 (2001) Efron D and Kilpatrick N. Attention deficit and hyperactivity disorder: a review and guide for dental professionals. Journal of Oral Health and Disability (in press)

Fiscus L, Van Herpen J, Steeber DA, Tedder TF and Tang MLK. L-selectin is required for the development of airway hyperreactivity but not airway inflammation if a murine model of asthma. Journal of Allergy and Clinical Immunology 107(6): 1019-1024 (2001) Fitzgerald J and Bateman JF. A new FACIT of the collagen family: COL21A1. FEBS Letters 505: 275-280 (2001)

Ekert H and Ashley DM. Expression of gage genes in neuroblastoma by reverse transcription-polymerase chain reaction. Chromosome Research 11: 197- 203 (2001)

Fitzgerald J, Selan M, Wiberg C, Keene C, Lamande SR and Bateman JF. The amino-terminal N5 subdomain of the alpha3 (VI) chain is important for collagen VI microfibril formation. Journal of Biological Chemistry 276: 187-193 (2001)

Elliott EJ, Robins-Browne RM, O'Loughlin EV, Henning P, Hogg GG, Knight J, Powell H, Redmond D and BennettWood V. Nationwide surveillance of hemolytic uremic syndrome in Australia: a comparison of endemic cases with those in a single epidemic. Archives of Disease in Childhood 85: 125-131 (2001)

Fletcher JM and Pitt JJ. Fasting medium chain acylcoenzyme: A dehydrogenase-deficient children can make ketones. Metabolism: Clinical and Experimental 50(2): 161-5 (2001)

Elliott K, Fitzpatrick E, Hill D, Brown J, Adams S, Chee P, Stewart G, Fulcher D, Tang M, Kemp A, King E, Varigos G, Bahio M and Forrest S. The -590C/T and -34C/T interleukin-4 promoter polymorphisms are not associated with atopic eczema in childhood. Journal of Allergy and Clinical Immunology 108: 285-287 (2001) Elliott SJ, Krejany EO, Robins-Browne RM and Kaper JB. EspG, a novel type III secreted protein from enteropathogenic E. coli with functions similar to VirA of Shigella. Infection and Immunity 69: 4027-4033 (2001) Escobar FJ, Williamson IP and Green J. The potential of GIS in improving urban health care delivery in cities in a globalising world: global report on human settlements 2001, United Nations Centre for Human Settlements (HABITAT), Earthscan Publications Ltd: London (2001) Falade AG, Adegbola RA, Mulholland EK and Greenwood BM. Respiratory rate as a predictor of positive lung aspirates in young Gambian children with lobar pneumonia. Annals of Tropical Paediatrics 21: 293297 (2001) Farlie PG, Reid C, Wilcox S, Peeters J, Reed G and Newgreen D. Ypell: a novel nuclear protein that induces an epithelial-like morphology in fibroblasts. Genes to Cells 6: 619-629 (2001) Fewtrell MS, Morley R, Abbott RA, Singhal A, Stephenson T, MacFadyen UM, Clements H and Lucas A. Catch-up growth in small-for-gestational-age term infants: a randomized trial. American Journal of Clinical Nutrition 74: 516-523 (2001)

Forrest SM, Knight M, Akerman BR, Cashman JR and Treacy EPA. A novel deletion in the flavin-containing monooxygenase gene (FM03) in a Greek patient with trimethylaminuria . Pharmacogenetics 11: 169-174 (2001) Fosang AJ and Smith PJ. To clot or not. Nature 412: 475476 (2001) Fosang AJ, Last K, Jackson DC and Brown L, Antibodies to MMP-cleaved aggrecan. In: Clark IM (ed). Methods in Molecular Biology: Matrix Metalloproteinase Protocols. Humana Press: New Jersey USA (2001) Fraser M, Mocatta T, Inder TE, Williams CE, Winterbourn CC, Volpe JJ, Gluckman PD and Voipe JJ. Elevated lipid peroxidation in microdialysates from white matter of a preterm fetal lamb model of periventricular leukomalacia. Pediatric Research 49(4): 438A (2001) Frawley GP, Dargaville PA, Mitchell PJ, Tress BM and Loughnan P. Clinical course and medical management of neonates with severe cardiac failure in related to Vein of Galen malformation. Archives of Disease in Childhood (in press) Gaff C, Aittomaki K and Williamson R. Oncology nurse training in cancer genetics. Journal of Medical Genetics 38: 691-695 (2001) Gardner RJM, Coleman LT, Mitchell LA, Smith U, Harvey S, Scheffer IE, Storey E, Nowotny MJ, Sloane R and Lubitz L. Near-total absence of the cerebellum. Neuropaediatrics 32: 62-68 (2001)

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V

Gardner RJM, Savarirayan R, Dunne KB, McLellan JA, Coleman LT, Suthers GK. Microlissencephaly with cardiac, spinal and urogenital defects. Clinical Dysmorphoiogy 10: 203-208 (2001) Garland S, Chuileannain F, Satzke C and Robins-Browne RM. Infection in pregnancy; morbidity and pregnancy loss. Journal of Reproductive Immunology (in press) Gedeon AK, Tiller GE, Le Merrer M, Heuertz S. Tranebjaerg L, Chitayat D, Robertson SP, Glass lA, Savarirayan R, Cole WG, Rimoin DL, Kousseff BG, Ohashi H, Zabel B, Munnich A, Gecz J and Mulley JC. The molecular basis of X-linked spondyloepiphyseal dysplasia tarda (SEDL). American Journal of Human Genetics 68; 1386-1397 (2001) Giannakudis J, Ropke A, Kujat A, Krajewska-Walasek M, Hughes H, Fryns JP, Bankier A, Amor D, Schlicker M and Hansmann I. Parental mosaicism of JAG1 mutations in families with Alagille syndrome, European Journal of Human Genetics 9; 209-216 (2001) Giglio S, Broman K, Matsumoto N, Calvari V, Gimelli G, Neumann , Ohashi H, Voullaire L, Larizza D, Giorda R, Weber JL, Ledbetter DH, Zuffardi 0. Olfactory receptor (OR) gene clusters, genomic inversion polymorphisms and common rearrangements. American Journal of Human Genetics 68: 874-883 (2001)

Chromosome Research 9: 251-259 (2001) Greve G, Lab MJ, Barron D, Chen R, White PA, Dick D, Redington AN and Penny DJ. Right ventricular distension during occlusion of the pulmonary artery alters monophasic action potential duration. Experimental Physiolology 86: 651-657 (2001)

receiving corticosteriod treatment. Journal of Paediatrics and Child Health 37; 67-71 (2001) Harrison D, Evans C, Johnston L and Loughnan P. Bedside assessment of heel lance pain in the hospitalized infant. Journal of Obstetrics, Gynecologic and Neonatal Nursing (in press)

Grover S and Morley R. Vitamin D deficiency in veiled or dark-skinned women. Medical Journal of Australia 175; 251-252 (2001)

Hassall TEG, Ashley DM and Mitchell AE. Carboplatin chemotherapy for progressive intramedullary spinal cord low-grade gliomas in children; Three case studies and a review of the literature. Neuro-Oncology 3;4; 251-257 (2001)

Gutierrez JP, Grimwood K, Armstrong DS, Carlin JB, Carzino R, Olinsky A, Robertson CF and Phelan PD. Interlobar differences in bronchoalveolar lavage fluid from children with cystic fibrosis. European Respiratory Journal 17: 281-286 (2001) Haby M, Powell C, Oberklaid F and Waters E. Asthma in children: gaps between current management and best practice. Journal of Paediatrics and Child Health (in press) Haby MM, Peat JK, Marks GB, Woolcock AJ and Leeder SR. Asthma in preschool children; prevalence and risk factors. Thorax 56(8): 589-595 (2001) Haby MM, Waters E, Robertson CF, Gibson PG and Ducharme FM. Interventions for education children who have attended the emergency room for asthma. (Cochrane Review). The Cochrane Library Issue 1; (2001)

Gilbertson H, Brand-Miller JC, Thorburn AW, Evans S, Chondros P and Werther G. The effect of low glycemic index dietary advice versus measured carbohydrate exchange diets on glycemic controls in children with type 1 diabetes. Diabetes Care 24: 7-(2001)

Hacking D, Watkins A, Fraser S, Wolfe R and Nolan T. Respiratory distress syndrome and antenatal corticosteroid therapy in premature twins. Archives of Disease in Childhood 85: 77-78 (2001)

Gong Y, Slee R, Wong H, Fukai N, Sabatakos et al. LDL receptor related protein 5 (LRP5) affects bone mass accrual and eye development. Ceil 107(4): 513-523 (2001)

Halliday JL, Warren R, McDonald G, Liamputtong Rice P, Bell RJ and Watson LF. Prenatal diagnosis for women aged 37 years and over: to have or not to have. Prenatal Diagnosis 21; 842-847 (2001)

Gooding TM, Johnson PD, Campbell DE, Hayman JA, Hartland EL, Kemp AS and Robins-Browne RM. Immune response to infection with Mycobacterium ulcerans. Infection and Immunity 69: 1704-1707 (2001)

Hand PJ, Gardner RJ, Knight MA, Forrest SM and Storey E. Clinical features of a large Australian pedigree with episodic ataxia type 1. Movement Disorders 16: 938-939 (2001)

Graham HK. Botulinum toxin type A management of spasticity in the context of orthopaedic surgery for children with spastic cerebral palsy. European Journal of Neurology 8(5); 30-39 (2001)

Harris M, Aschkenasi C, Elias CF, Chandrankunnel A, Nilini EA, Bjorbaek C, Elmquist JK, Flier JS and Hollenberg AN. Transcriptional regulation of the thyrotropin-releasing hormone gene by leptin and melanocortin signaling. Journal of Clinical Investigation 107: 111-120 (2001)

Greaves IK, Svartman M, Wakefield M, Taggart D, De Leo A, Fergusin-Smith MA, Rens W, O'Brien PCM, Voullaire L, Westerman M and Graves JAM. Chromosomal painting detects non-random chromosome arrangement in dasyurid marsupial sperm.

Harris M, Hauser S, Nguyen TV, Kelly PJ, Rodda C, Morton J, Freezer N, Strauss BJG, Eisman JA and Walker JL. Bone mineral density in prepubertal asthmatics

Headley BM, McDougall PN, Stokes KB, Dewan PA and Dargaville PA. Left lung collapse and bronchial deformation in giant omphalcele. Journal of Pediatric Surgery 46: 846-850 (2001) Heine RG, Ward PB, Mikosza AS, Bennett-Wood V, Robins-Browne RM and Hampson DJ. Brachyspira aalborgi infection in four Australian children. Journal of Gastroenterology and Hepatology 16: 872-875 (2001) Hembry RM, Dyce J, Driesang I, Fosang AJ, Tyler JA and Murphy G. Immunolocalization of matrix metalloproteinases in partial-thickness defects in pig articular cartilage. Journal of Bone Joint Surgery 83: 826838 (2001) Heussler H and Wake M. Otitis Media with Effusion (OME) or Glue Ear. In: Polnay L (ed). Community Paediatrics 4th Edition. Churchill Livingstone: Edinburgh (in press) Hill DJ, Heine RG and Hosking CS. Management of peanut and nut allergies. The Lancet 357: 87-88 (2001) Hill DJ, Hosking CS and Reyes-Benito MLV. Reducing the need for food allergen challenges in young children; a comparison of in vitro with in vivo tests. Clinical and Experimental Allergy 31: 1031-1035 (2001) Hiscock H and Oberklaid F. Life events of normal children. In: Robinson M and Roberton D (eds). Practical Paediatrics 5th Edition. Harcourt Health Sciences: Edinburgh (in press) Hiscock H and Wake M. Infant sleep problems and postnatal depression: a community based study. Paediatrics 107: 1317-1322 (2001) Houltram J, Noble I, Boyd RN, Corry I, Flett P and Graham HK. Botulinum toxin type A in the management of equinus in children with cerebral palsy; An evidencebased economic evaluation. European Journal of Neurology 8(5): 194-202 (2001)

Houseman MJ, Ellis LA, Pagnamenta A, Di WL, Rickard S, Osborn AH, Dahl HHM, Taylor GR, Bitner-Glindzicz M, Reardon W, Mueller RF and Kelsell DP. Genetic analysis of the connexin-26 M34T variant: identification of genotype M34T/M34T segregation with mild-moderate non-syndromic sensorineural hearing loss. Journal of Medical Genetics 38; 20-25 (2001) Hrabovszky Z and Hutson JM. Surgical treatment of intersex anomalies; a review. Surgery (in press) Hrabovszky Z, Farmer PJ and Hutson JM. Undescended testis is accompanied by CGRP accumulation within the sensory nucleus of the genitofemoral nerve in TS rats. Journal of Urology 165: 1015-1018 (2001)

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Huppi PS and Inder TE. Magnetic resonance techniques in the evaluation of the perinatal brain: recent advances and future directions. Seminars in Neonatology 6(2): 195210(2001)

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Huppi PS, Murphy B, Maier SE, Zientara GP, Inder TE, Barnes PD, Kikinis R, Jolesz FA and Voipe JJ. Microstructural brain development after cerebral perinatal white matter injury assessed by diffusion tensor magnetic resonance imaging. Pediatrics 107: 455-460 (2001) Hutson JM, McNamara J, Gibb S and Shin YM. Slow transit constipation in children. Journal of Paediatrics and Child Health 37:426-430 (2001) Hynson JL and Sawyer SM. Paediatric palliative care: distinctive needs and emerging issues. Journal of Paediatrics and Child Health 37: 323-325 (2001) Hynson JL, Kornberg AJ, Coleman LT, Shield L, Harvey AS and Kean MJ. Clinical and neuroradiologic features of acute disseminated encephalomyelitis in children. Neurology 56; 1308-1312 (2001) llkovski B, Cooper ST, Nowak K, Ryan MM, Yang N, Schnell C, Durling HJ, Roddick LG, Wilkinson I, Kornberg AJ, Collins KJ, Wallace G, Gunning P, Hardeman E, Laing NG and North K. Nemaline myopathy caused by mutations in the muscle a-skeletal-actin gene. American Journal of Human Genetics 68: 1333-1343 (2001) Inder TE, Anderson NJ, Spencer C, Huppi PS, Wells SJ and Voipe JJ. Cranial US demonstrates low sensitivity but high specificity in relation to MRI for the diagnosis of white matter injury in the VLBW infant. Pediatric Research 49(4): 366A (2001) Inder TE, Mocatta T, Spencer C, Darlow BA, Austin NC, Voipe JJ and Winterbourn CC. Elevated free radical

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products and cytokines in the cerebrospinal fluid of premature infants with white matter injury. Pediatric Research 49(4): 366A (2001)

longitudinal study from infancy to the mid-teens. American Journal of Medical Genetics 105: 346-350 (2001)

Inder TR, Spencer C, Wells SJ, Woodward U, Huppi PS and Voipe JJ. Magnetic resonance imaging of the premature infant at term: qualitative abnormalities and their perinatal correlates. Pediatric Research 49(4): 303A (2001)

Kamarinos M, McGill J, Lynch M and Dahl H. Identification of a novel COCH mutation, I109N, highlights the similar clinical features observed in DFNA9 families. Human Mutation 17: 351 (2001)

loannou PA. Human Gene Therapy. Encyclopedia of Life Sciences A994 (2001)

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Jacenko 0, Chan D, Franklin A, Ito S, Underhill C, Bateman JF and Campbell MR. A dominant interference collagen X mutation disrupts hypertrophic chondrocyte pericellular matrix and glycosaminoglycan and proteoglycan distribution in transgenic mice. American Journal of Pathology 159: 2257-2269 (2001) Jacobs R, Anderson V and Harvey AS. Concept Generation Test: A measure of conceptual reasoning in children: Examination of developmental trends. Clinical Neuropsychological Assessment 2: 101-117 (2001) Jacobs R, Anderson V and Harvey AS. Neuropsychological profile of a 9-year-old child with subcortical band heterotopia or "double cortex". Developmental Medicine and Child Neurology 43: 628633 (2001) Jacobs R, Northam E and Anderson V. Cognitive outcome in children with myelomeningocele and perinatal hydrocephalus: A longitudinal perspective. Journal of Developmental and Physical Disabilities 13: 389-404 (2001) Johnson A and Copnell B. Benefits and barriers for registered nurses undertaking postgraduate diplomas in paediatric nursing. Nurse Education Today (in press)

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Johnson H, King J and Reddihough DS. Children with sialorrhea in the absence of neurological abnormalities. Child: Care, Health and Development 27 (6): 591-602 (2001) Johnson JL, Coyne KE, Rajagopalan KV, Van Hove JLK, Mackay M, Pitt J and Boneh A. Molybdopterin Synthase Mutations in a Mild Case of Molybdenum Cofactor Deficiency. American Journal of Medical Genetics 104: 169-173 (2001) Jorm A, Prior M, Sanson A, Smart D, Zhang Y and Easteal S, Association of a polymorphism of the dopamine transporter gene with externalizing behavior problems and associated temperament traits: A

Kanumakala S and Warne GL. Classical 21 - hydroxylase deficiency. In: Luciano Martini (ed). Encyclopedia of Endocrinology and Endocrine Diseases, Academic Press: USA (2001) Kanumakala S, Warne GL and Zacharin M. Hypopituitarism after cranial irradiation. Journal of Paediatric Endocrinology and Metabolism (in press) Kanumakala S, Warne GL, Stokes KB, Chan YF and Grover S. Massive Ovarian edema causing early puberty. Journal of Paediatric Endocrinology and Metabolism (in press) Kanumakala S, Zacharin M and Boneh A, Effect of pamidronate treatment on osteporosis in children with Menkes disease. Journal of Paediatric Endocrinology and Metabolism (in press) Kapsa R, Quigley A, Gordon SL, Steeper K, Kornberg AJ, Gregorevic P, Austin L and Edward B. In vivo and in vitro correction of the mdx dystrophin gene nonsense mutation by short-fragment homologous replacement. Human Gene Therapy 12: 629-642 (2001) Kelly DF, Boneh A, Pitsch S, Gold H, Fietz M, Nelson P and Oliver MR. Carbohydrate-deficient glycoprotein syndrome type 1b: a new answer to an old diagnostic dilemma. Journal of Paediatrics and Child Health 37: 510-513 (2001) Kemp A and Bjorksten B. Immune deviation and the hygiene hypothesis: a review of the epidemiological evidence. Pediatric Allergy and Immunology (in press) Kemp AS. Management of allergic rhinitis in infants and preschool children. Current Therapeutics October: 63-67 (2001) Kennerson ML, Zhu D, Gardner RJM, Storey E, Merory J, Robertson SP and Nicholson GA. Dominant intermediate Charcot-Marie-Tooth neuropathy maps to chromosome 19p12-p13.2. American Journal of Human Genetics 69: 883-888 (2001) Keramidaris E, Merson T, Steeber DA, Tedder TF and Tang MLK. L-selectin and ICAM-1 mediate lymphocyte

migration to inflamed airway/lung during an allergic inflammatory response in an animal model of asthma. Journal of Allergy and Clinical Immunology 107(4): 734738 (2001)

Bateman JF. Kinked collagen VI tetramers and reduced microfibril formation as a result of Bethlem myopathy and introduced triple helical glycine mutations. Journal of Biological Chemistry (in press)

Kilpatrick NM. History, examination and treatment planning. In: Welbury RR (ed). Paediatric Dentistry 2nd Edition. Oxford University Press: Oxford (2001)

Lander ES, Linton LM, Birren B, Nusbaum C, Zody MC...Ioannou P...et al. (International Human Genome Sequencing Consortium). Initial sequencing and analysis of the human genome. Nature 409: 860-921 (2001)

Kirkwood C and Bishop R. Molecular detection of human calcivirus in young children hospitalized with acute gastroenteritis in Melbourne, Australia during 1999. Journal of Clinical Microbiology 39: 2722-2724 (2001)

Leeson CP, Kattenhorn M, Morley R, Lucas A and Deanfield JE, Impact of low birth weight and cardiovascular risk factors on endothelial function in early adult life. Circulation 103: 1264-1268 (2001)

Kleanthous M, Kyriacou K, Kyrri A, Kalogerou E, Vassiliades PH, Drousiotou A, Kallikas I, loannou P and Angastiniotis M. Alpha-thalassaemia prenatal diagnosis by two PCR based methods. Prenatal Diagnosis 21: 413417 (2001)

Lewis S, Hutchison W, Di Nezza L, Thyagarajan D, Marotta M and Dahl HHM. Refinement of adPEO linked locus on 10q23.3-24.3 and sequence, structure, expression of MRS4 and exclusion of this and 3 other candidate genes. FEBS Letters 500: 183-185 (2001)

Kubota Y, Nef S, Farmer PJ, Temelcos C and Hutson JM. Leydig insulin-like hormone and gubernacular development and testicular descent. Journal of Urology 165: 1673-1675 (2001)

Lo AWI*, Craig JM*, Earle E, Saffery R, Irvine DV and Choo KHA. A 330-kb CENP-A-binding domain and altered replication timing at a human neocentromere. The EMBO Journal 20: MO (2001)

Kumar P, Roy A, Penny DJ, Ladas G and Goldstraw P. Airway obstruction and ventilator dependency in young children (<18months) with congenital cardiac defects : a role for self expanding metal stents (SEMS). Intensive Care Medicine (in press)

Lo AWI*, Magliano DJ*, Sibson MC, Kalitsis P, Craig JM and Choo KHA. A novel chromatin immunoprecipitation and array (CIA) analysis identifies a 460-kb CENP-Abinding neocentromere DNA. Genome Research 11: 448-457 (2001)

Kumar RK and Delatycki MB. Down Syndrome. In: Gupte S (ed). Recent Advances in Paediatrics. Special Volume 9. Jaypee: New Delhi (2001)

Lopate G, Kornberg AJ, Yue J, Choksi R and Pestronk A. Anti-myelin associated glycoprotein antibodies: variability in patterns of IgM binding to peripheral nerve. Journal of the Neurological Sciences 188: 67-72 (2001)

Lahoud MH, Ristevski S, Venter DJ, Jermiin LS, Bertoncello I, Zavarsek S, Hasthorpe S, Drago J, De Kretser D, Hertzog PJ and Kola I, Gene targeting of Desrt, a novel ARID class DNA-binding protein, causes growth retardation and abnormal development of reproductive organs. Genome Research 11(8): 13271334 (2001) Lajoie G, Anderson V, Anderson P, Tucker A, Robertson I and Manly T. Effects of methyiphenidate on attention skills in children with attention deficit/hyperactivity disorder. Clinical Neuropsychological Assessment (in press)

Lucas A, Fewtrell MS, Morley R, Singhal A, Abbott RA, Isaacs E, Stephenson T, MacFadyen UM and Clements H. Randomized trial of nutrient-enriched formula versus standard formula for postdischarge preterm infants. Pediatrics 108: 703-711 (2001) Lucas A, Morley R and Isaacs E. Nutrition and mental development. Nutrition Reviews 59: 24-32 (2001) Lui Ml and Hutson JM. Ontogeny of bladder agenesis in rats induced by adriamycin. BJU International 87: 7-11 (2001)

Lam PY, Oliver MR, Fink AM, Woodward A and Marks MK. Delayed presentation of an ingested foreign body causing a gastric perforation. Journal of Paediatrics and Child Health 37: 303-304 (2001)

Luk E, Staiger P, Mathai J, Wong L, Birleson P and Adler R, Children with persistent conduct problems who dropout of treatment. European Child and Adolescent Psychiatry 10: 28-36 (2001)

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Luk E, Staiger P, Mathai J, Wong L, Birleson P and Adler

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R. Evaluation of outcome in child and adolescent mental health services; children with persistent conduct problems. Clinical Child Psychology and Psychiatry 6: 109-124 (2001)

Meiser B and Halliday J. What is the impact of genetic counselling in women at increased risk of developing hereditary breast cancer? A meta-analytic review. Social Sciences and Medicine (in press)

Magliano D, Wong LH, and Choo KHA. Nucleic acids; Hybridisation. Encyclopedia of Life Sciences. Nature Publishing Group Online; http;//www.els.net (2001)

Meiser B. Butow R Barratt A, Gattas M, Gaff C, Haan E, Gleeson M, Dudding T and Tucker K. Risk perceptions and knowledge of breast cancer genetics in women at increased risk of developing hereditary breast cancer. Psychology and Health 16: 297-311 (2001)

Morley R and Dwyer T. Fetal origins of adult disease? Clinical and Experimental Pharmacology and Physiology 28: 962-966 (2001)

Meiser B, Butow PN, Barratt AL, Schnieden V, Gattas M, Gaff C, Suthers G and Tucker K. Long-term outcomes of genetic counselling in women at increased risk of developing hereditary breast cancer. Patient Education and Counselling 44: 215-225 (2001)

Mount R, Hastings RR Charman T, Reilly S and Cass H. Behavioural and Emotional Features of Rett Syndrome. In: Kerr A and Witt-Engerstrom I (eds). Rett Disorder and the Developing Brain. Oxford University Press: Oxford (2001)

Menahem S. Endocarditis: a paediatric perspective. World Pediatrics Adolescence and Family Care 8: 137144(2001)

Mount R, Hastings RR Reilly S, Cass H and Charman T. Behavioural and emotional features in Rett Syndrome. Journal of Disability and Rehabilitation 23 (3-4): (2001)

Menahem S. Paediatric and parental non compliance. Journal of Judaism and Civilisation 3; 49-55 (2001)

Mulholland EK. Pneumococcal conjugate vaccinerelevance for developing countries. Indian Pediatrics 38; 453-460 (2001)

Marshall J, Hutson JM, Anticich N and Stanton MP Antegrade continence enemas in the treatment of slow transit constipation. Journal of Pediatric Surgery 36: 12271230 (2001) Martin R Prior M and Milgrom J. Health and Medical Research: Contribution of the Social and Behavioural Sciences. The Australian Psychological Society: Melbourne (2001) Masarei A, Veness J, Sell D, Wade A and Reilly S. The Great Ormond Street Measurement of infant feeding (GOSMIF): an objective assessment of infant feeding. Speech Therapy in Practice, Winter; 11-13(2001) Masendycz R Bogdanovic-Sakran N, Kirkwood C, Bishop R and Barnes G. Report of the Australian Rotavirus Surveillance program. Communicable Disease Intelligence 25; 143-146 (2001) Matthews L, Anderson V and Anderson P. Assessing the validity of the Rey Complex Figure as a diagnostic tool: Accuracy, recall and organizational strategy scores in children with brain insult. Clinical Neuropsychological Assessment 2: 85-99 (2001) McClive PJ and Sinclair AH. Rapid extraction and PCRsexing of mouse embryos. Molecular Reproduction and Development 60: 225-226 (2001) McDougall R, Rosenfeld J, Wrennall J and Harvey AS. Awake craniotomy in an adolescent. Anaesthesia and Intensive Care 29: 423-425 (2001) McKinley D and Blackford J. Nurses' experiences of caring for culturally and linguistically diverse families when their child dies. International Journal of Nursing Practice. 7(4): 252-256 (2001) Mead L, Southey MC, Young MA, Trute L, Aittomaki K, Whitty J, Mifsud S, McLachlan SA, Debinski H and Keilar S. Molecular pathologic analysis enhances the diagnosis and management of Muir-Torre syndrome and gives insight into its underlying molecular pathogenesis. American Journal of Surgical Pathology 25 (7): 936-941 (2001)

Merei JM and Hutson JM. Embryogenesis of tracheo­ esophageal anomalies. Pediatric Surgery (in press) Micallef S, Anderson J, Anderson V, Robertson I and Manly T. Sustained and selective attention in children with Attention Deficit/Hyperactivity Disorder and specific learning disabilities. Clinical Neuropsychological Assessment 2: 1-23 (2001) Mills JF and Dargaville PA. Economic evaluation of prophylaxis against repiratory syncytial virus infection in at- risk infants. Journal of Paediatrics and Child Health 37:317-318(2001) Mills JF and Tudehope D. Fibre optic phototherapy for neonatal jaundice (Cochrane Review). The Cochrane Library Issue 1: (2001) Mills JF, Dargaville PA, Coleman LT, Rosenfeld JV and Ekert PG. Upper cervical spinal cord injury in neonates: the use of magnetic resonance imaging. Journal of Pediatrics 138: 105-108(2001) Mitchell LA, Thomas PQ, Zacharin M and Scheffer I. Ectopic posterior pituitary and periventricular heterotopia: cerebral malformations with the same underlying mechanism. Journal of Neuroradiology (in press) Mitchell PJ, Rosenfeld JV, Dargaville R Loughnan R Ditchfield MR, Frawley G and Tress BM. Endovascular management of vein of galen aneurysmal malformations presenting in the neonatal period. American Journal of

Neuroradiology 22(7); 1403-1409 (2001) Morahan G, Huang D, Ymer SI, Cancilla MR, Stephen K, Dabadghao , Werther G, Tait BD, Harrison LC and Colman P, Linkage disequilibrium of a type 1 diabetes susceptibility locus with a regulatory IL 12B allele. Nature Genetics 27; 218-221 (2001)

Murphy BP, Inder TE, Huppi PS, Zientara GR Kikinis R, Jolesz FA and Voipe JJ. Impaired Cerebral cortical gray matter growth following treatment with dexamethasone for neonatal chronic lung disease. Pediatrics 107: 217221 (2001) Mutton R Dahl HHM and Saunders K. Why is my child deaf? Medicine Today June: 92-96 (2001) Nanni L, Ming JE, Du Y, Hall RK, Aldred M, Bankier A and Muenke M. SHH mutation is associated with solitary median mexillary central incisor: a study of 13 patients and review of literature. American Journal of Medical Genetics 102: 1-10(2001) Nasioulas S, Jones IT, St. John DJB, Scott RJ, Forrest SM and Gardner RJM. Typical familial adenomatous polyposis with an Adenomatous Polyposis Coli exon 3 mutation. Familial Cancer 1: 3-7 (2001) Neville BGN, Clark M, Carr L and Reilly S. The WorsterDrought and congenital perisylvian syndromes - a continuing question mark. [Letter to the editor]. Pediatric Neurology 25(4): 347 (2001) Newgreen DF and Young HM. The enteric nervous system: development and developmental disturbances Part 1. Pediatric and Developmental Pathology (in press) Newstead J and Metcalfe S. Getting the gene into general practice. Australian Family Physician 30: 927-927

(2001) Nixon GM, Armstrong DS, Carzino R, Carlin JB, Olinsky A, Robertson CF and Grimwood K. Clinical outcome after early Pseudomonas aeruginosa infection in cystic fibrosis. Journal of Pediatrics 138; 699-704 (2001) Nolan X Angos R Cunha A, Muhe L, Qazi S, Simoes EA, Tamburlini G, Weber W and Pierce NF. Quality of hospital care for seriously ill children in developing countries. The Lancet 357: 106-110 (2001) Nolan T, Hogg G, Darcy MA, Skeijo M, Carlin J and Boslego J. A combined liquid Hib (PRP-OM PC), hepatitis B, diphtheria, tetanus and whole-cell pertussis vaccine: controlled studies of immunogenicity and reactogenicity. Vaccine 19: 2127-2137 (2001)

IH! oo 3 00 LJJ

Norman RJ, Kidson W, Cuneo R and Zacharin M. Metformin and intervention in polycystic ovary syndrome. Medical Journal of Australia 174(11); 580583 (2001)

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Northern E, Anderson R Hughes M, Warne G and Werther G. Neuropsychological profiles of children with type 1 diabetes six yers after disease onset. Diabetes Care 24: 1541-1546 (2001) Nugent AW, Davis AM, Kleinert S, Wilkinson JL and Weintraub RG. Clinical, electrocardiographic, and histologic correlations in children with dilated cardiomyopathy. Journal of Heart and Lung Transplantation 20; 1152-1157 (2001) Oberklaid F. Is there life after unexplained crying?: Outcomes and Consequences. In: Barr RG, St JamesRoberts I and Keefe MR (eds). New Evidence on Unexplained Early Infant Crying: Its Origins, Nature and Management. Johnson and Johnson Pediatric Institute: New Jersey (2001) O'Driscoll SW, Spinner RJ, McKee MD, Kibler WB, Hastings Hll, Morrey BF, Kato H, Takayama S, Imatani J, Toh S and Graham HK. Tardy Posterolateral rotatory instability of the elbow due to cubitus varus. Journal of Bone Joint Surgery 83-A: 1358-1369 (2001) Old JM, Khan SN, Verma I, Fucharoen S, Kleanthous M, loannou R Kotea N, Fisher C, Riazuddin S, Saxena R, Winichagoon R Kyriacou K, Al-Quobaili F and Khan B. A multi-center study in order to further define the molecular basis of beta-thalassemia in Thailand, Pakistan, Sri Lanka, Mauritius, Syria, and India, and to develop a simple molecular diagnostic strategy by amplification refractory mutation system-polymerase chain reaction. Hemoglobin 25: 397-407 (2001)

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Oliver S, Oakley L. Lumley J and Waters E. Smoking cessation programmes in pregnancy: systematically addressing development, implementation, women's concerns and effectiveness. Health Education Journal 60(4): 362-370 (2001) O'Loughlin E and Robins-Browne RM. Effect of Shiga toxins on eukaryotic cells. Microbes and Infection 3: 493507 (2001) Palmer GM, Davidson AJ, Sethna N and Laussen P. Use of bispectral index monitor to aid titration of propofol during a drug assisted interview. Paediatric Anaesthesia 11(2): 245-248 (2001) Palombo E and Bishop R. Rotaviruses. Encyclopedia of Life Sciences (2001) Patton GC, Coffey C, Posterino M, Carlin JB and Wolfe R. Parental 'affectionless control' in adolescent depressive disorder. Social Psychiatry and Psychiatric Epidemiology 36: 475-480 (2001) Patton GC, Olsson C and Toumbourou J. Prevention and Mental Health Promotion in Adolescents: The Evidence. In: Rowling L, Martin G and Walker L (eds). Mental Health Promotion and Young People: Concepts and Practice. McGraw Hill: Roseville (in press) Patton GC, Sanci LA and Sa\A/yer SM. Adolescent Medicine. Medical Journal of Australia (in press) Pennock M and Waters E. Public health and health promotion research: the role of the Cochrane collaboration. Health Promotion Practice (in press) Penny D and Menahem S. Current issues in paediatric infective endocarditis. World Paediatrics, Adolescence and Family Care 8: 127-135 (2001) Penny DJ and Smolich JJ. Divergent effects of NO synthase inhibition on systemic and myocardial 02 delivery and consumption during dobutamine infusion in sheep. Pfiugers Archiv: European Journal of Physiology (in press) Penny DJ, Sano T, Forster KM and Smolich JJ. Increased systemic oxygen consumption offsets improved oxygen delivery during dobutamine infusion in newborn lambs. Intensive Care Medicine 27: 1518-1525 (2001) Penny DJ, Somerville J and Redington AN. Transcatheter closure of a traumatic atrial septal defect. Journal of Trauma (in press) Penny DJ. Univentricular Atrioventricular Connection. In:

Anderson RH et al (eds). Paediatric Cardiology 2nd Edition. Churchill-Livingstone: London (2001) Penny DJ. Ventricular Function. In: Anderson RH et al (eds). Paediatric Cardiology 2nd Edition. ChurchillLivingstone: London (2001) Ponsonby AL and Kemp A. Asthma and early childhood infectious disease. Critical time for protective effect of large family on asthma may not be during first year of life. British Medical Journal 323: 164-165 (2001) Ponsonby AL, Dwyer T. Kemp A, Couper D, Cochrane J and Carmichael A. A prospective study of the association between home gas appliance use during infancy and subsequent dust mite sensitisation and lung function in childhood. Clinical and Experimental Allergy 31: 15441552 (2001) Ponsonby AL, Kemp A, Dwyer T, Carmichael A, Couper D and Cochrane J. Feather bedding and house dust mite allergen induced airway disease in childhood. Journal of Clinical Epidemiology (in press) Prior M, Smart D, Sanson A and Oberklaid F. Longitudinal predictors of behavioural adjustment in pre­ adolescent children. Australian and New Zealand Journal of Psychiatry 35: 297-307 (2001) Radcliff FJ, Caruso DA, Koina C, Riordan MJ, Roberts AW, Tang MLK, Baum CM, Wolfe SL and Ashley DM. Mobilisation of dendritic cells in cancer patients treated with G-CSF and chemotherapy. British Journal of Haematology (in press) Randall M, Carlin JB, Reddihough D and Chondros R Reliability of the Melbourne assessment of unilateral upper limb function. Developmental Medicine and Child Neurology 43: 761-767 (2001) Reddihough DS, Baikie G and Walstab J. Cerebral palsy in Victoria: mortality and causes of death. Journal of Paediatrics and Child Health 37: 183-186 (2001) Reilly S and Carr L. Foreign body ingestion in children with severe and complex neuro-disability: the need for vigilance. Dysphagia 16(1): 68-73 (2001) Reilly S and Cass H. Growth and nutrition in Rett syndrome. Journal of Disability and Rehabilitation 23 (34): 118-128 (2001) Reilly S and Perry A. Is there an evidence base to the management of paediatric dysphagia? Asia Pacific Journal of Speech, Language and Hearing 6(1): 1-8 (2001)

Reilly S. Prevalence and severity of feeding and nutritional problems in children with neurological impairment: oxford feeding study. Developmental Medicine and Child Neurology 43(5): 358-(2001)

Vyas JR, Starr M, Sawyer SM and Curtis N. Severe Bordetella holmesii infection in a previously healthy adolescent confirmed by gene sequence analysis. Clinical Infectious Diseases 33(1): 129-130 (2001)

Robins-Browne RM and Hartland EL. Contribution of Escherichia coli to diseases of the gastrointestinal tract. Journal of Gastroenterology and Hepatology (in press)

Russell FM, Starr M, Hayman J, Curtis N and Johnson PDR. Mycobacterium ulcerans infection diagnosed by polymerase chain reaction. Journal of Paediatrics and Child Health (in press)

Robins-Browne RM. Yersinia enterocolitica. In: Doyle MP, Beuchat LR and Montville TJ (eds). Food microbiology: fundamentals and frontiers 2nd edition. American Society for Microbiology: Washington DC (2001) Robins-Browne RM. Yersinia enterocolitica. In: Sussman M et al (eds). Molecular medical microbiology. Academic Press: London (2001) Robinson P, Griffith J, Taylor K, Carnie J, Jolley D, Hogg G and Nolan T. Laboratory-enhanced surveilience for meningococcal disease in Victoria. Journal of Paediatrics and Child Health (in press) Robinson R Taylor K and Nolan T Risk factors for meningococcal disease in Victoria, Australia, in 1997. Epidemiology and Infection 127: 261-268 (2001) Rodda J and Graham HK. Classification of gait patterns in spastic hemiplegia and spastic diplegia: A basis for a management algorithm. European Journal of Neurology 8(5): 98-108 (2001)

Rutishauser C, Sawyer SM. Bond L, Coffey C and Bowes G. Development and validation of the adolescent asthma quality of life questionnaire (AAQOL). European Respiratory Journal 17: 52-58 (2001) Sadaah 0, Oliver MR, Bines JE, Stokes KB and Cameron DJS. An association between genital and ano-rectal Crohn's disease. Journal of Pediatric Gastroenterology and Clinical Nutrition (in press) Saddah 01, Smith AL and Hardikar W. Long term outcome of autoimmune hepatitis in children. Journal of Gastroenterology and Hepatology 16: 1297-1302 (2001) Sadiq M, Wilkinson JL and Qureshi SA. Successful occlusion of a coronary arteriovenous fistula using an Amplatzer duct occluder. Cardiology in the Young 11: 84-87 (2001)

Rodger AJ, Lanigan A, Hocking J and Crofts N. Tracing and recruiting a cohort with community acquired hepatitis 25 years later. The Australian and New Zealand Journal of Public Health 25: 489-493 (2001)

Saffery R*, Wong LH*, Irvine DV, Bateman MA, Griffiths B. Cutts SM, Cancilla MR, Cendron AC, Stafford AJ and Choo KHA. Construction of neocentromere-based human minichromosomes by telomere-associated chromosomal truncation. Proceedings of the National Academy of Sciences of the United States of America 98: 5705-5710(2001)

Rosenfeld J, Harvey AS, Wrennal J, Zacharin M and Berkovic S. Transcallosal resection of hypothalamic hamartomas with control of seizures in five children with gelastic epilepsy. Neurosurgeon 48 (1): 108-118(2001)

Sanci LA, Day NA, Coffey CM, Patton GC and Bowes G. Simulations in evaluation of training: a medical example using standardised patients. Evaluatfon and Program Planning (in press)

Ruangpanit N, Chan D, Holmbeck K, Birkedal-Hansen H, Polarek J, Yang C and Bateman JF. Gelatinase A (MMP-2) activation by human skin fibroblasts: dependence on MT1-MMP expression and fibrillar collagen form. Matrix Biology 20: 193-203 (2001)

Savarirayan R, Cormier-Daire V, Rimoin DL. Achondroplasia. In: Brenner S and Miller JH (eds) Encylopedia of Genetics. Academic Press: New York (2001)

Ruangpanit N, Price JT, Holmbeck K, Birkedal-Hansen H, Guenzier V, Huang X, Chan D, Bateman JF and Thompson EK. MTI-MMP-dependent and independent regulation of gelatinase A activation in long-term, ascorbate-treated skin fibroblasts: regulation by fibrillar collagen. Experimental Cell Research (in press) Russell FM, Davis JM, Whipp MJ, Janssen PH, Ward PB,

Savarirayan R, Cormier-Daire V, Rimoin DL. Brachydactyly. In: Brenner S and Miller JH (eds). Encylopedia of Genetics. Academic Press: New York (2001) Savarirayan R. Atelosteogenesis type III. In: Lippincott (ed). Nord Guide to Rare Disorders. Williams and Wilkins: New York (2001) Savarirayan R. Oto-palato-digital syndrome. In: Lippincott (ed). Nord Guide to Rare Disorders. Williams and Wilkins:

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New York (2001) Savarirayan R. Schmid metaphyseal chondrodysplasia. In: Lippincott (ed). Nord Guide to Rare Disorders. Williams and Wilkins: New York (2001) Savulescu J and Boyle B. Ethics of using preimplantation genetic diagnosis to select a stem cell donor for an existing person, British Medical Journal 323: 1240-1243 (2001) Savulescu J and Kerridge I. Competence and consent. Medical Journal of Australia 175; 313-315 (2001) Savulescu J. Harm ethics committees and the gene therapy death. Journal of Medical Ethics 27: 148-150 (2001) Savulescu J. In defence of selection for non-disease genes. American Journal of Bioethics 1: 16-19 (2001) Savulescu J. Is current practice around late termination of pregnancy eugenic and discriminatory? Journal of Medical Ethics 27: 165-171 (2001) Savulescu J. Predictive genetic testing in children. Medical Journal of Australia 175: 379-381 (2001)

Schulze-Neick I, Penny DJ and Redington AN. Pulmonary vascular resistance after cardiopulmonary bypass in infants; effect on postoperative recovery. Journal of Thoracic Cardiovascular Surgery 121: 133-139(2001) Scoble MK, Copnell B, Taylor A, Kinney S and Shann F. Effect of reusing suction catheters on the occurrence of pneumonia in children. Heart and Lung 30(3); 225-233 (2001) Severin D, Leong T, Cassidy B, El-Saleh H, Peters L, Venter D, Southey M and McKay M. Novel DNA sequence variants in the hHR21 DNA repair gene in radiosensitive cancer patients. International Journal of Radiation Oncology, Biology & Physics 50: 1323-31 (2001) Sheffield U, Strategies to find new genes involved in drug metabolism. Current Opinion in Molecular Therapeutics 3(6): 579-584 (2001) Shekerdemian LS, Ravn H and Penny DJ. Intravenous sildenafil lowers pulmonary vascular resistance in a model of neonatal pulmonary hypertension. American Journal of Respiratory Disease and Critical Care Medicine (in press)

with reading difficulties; a six year follow-up from early primary school to secondary school. Australian Journal of Psychology 53:45-53 (2001) Smart J and Kemp A. Increased TH1 and TH2 allergen specific cytokine responses in children with atopic disease. Clinical and Experimental Allergy (in press) Smart J and Kemp A. Otogeny of TH1 and TH2 cytokine production in childhood. Pediatric Allergy and Immunology 12; 181-187 (2001) Smith CA and Sinclair AH. Sex determination in the chick embryo. Journal of Experimental Zoology 290; 691-699 (2001) Smith D and Scoullar K. How well informed are Australian General Practitioners about adolescent suicide? Implications for primary prevention. Internationa! Journal of Psychiatry in Medicine 31: 169182 (2001) Smith KJ, Kubota Y, Hutson JM, Wade JD, Claasz AA, Tregear GW, Otvos L, Bathgate RA and Temelcos C. Chemical synthesis and biological activity of rat Insl3. Journal of Peptide Science (in press)

Shelby-James T, Leach AJ, Carapetis JR, Currie BJ and Mathews JB. Impact of single dose azithromycin on group A streptococci in the upper respiratory tract and skin of Aboriginal children. Pediatric Infectious Diseases (in press)

Solomon NM, Nouri S, Warne G, Lagerstrom-Fermer M, Forrest SM and Thomas PQ. Increased gene dosage at Xq26-q27 is associated with X-linked hypopituitarism (XH). Genomics (in press)

Sawyer SM, Shea L and Patton G. Do we need specialist units for adolescents in hospitals? British Medical Journal 323: 401-401 (2001)

Sinclair AH and Cameron FJ. Molecular Genetics of Gonadal Development. In: Balen A (ed). The Multidisciplinary Approach to the management of Paediatric and Adolescent Gynaecology. Cambridge University Press: Cambridge (in press)

Sawyer SM, Tully MA and Colin AA. Reproductive health in males with cystic fibrosis: a case for health professional education and training. Journal of Adolescent Health 28: 36-40 (2001)

Southey MC, Young M-A, Whitty J, Mifsud S, Keilar M, Mead L, Trute L, Aittomaki K, McLachlan S-A, Debinski H, Venter DJ and Armes JE, Molecular pathologic analysis enhances the diagnosis and management of Muir-Torre syndrome and gives insight into its underlying molecular pathogenesis. The American Journal of Surgical Pathology 25(7): 936-941 (2001)

Sinclair AH. Eleven years of sexual discovery. Genome Biology 2: 40171-40173 (2001)

Savulescu J. Resources, Down’s syndrome, and cardiac surgery. British Medical Journal 322; 875-876 (2001) Savulescu J. The case in favour of predictive testing of children. Bioethics 15: 26-49 (2001)

Sawyer SM, Zalan A and Bond LM. Telephone reminders improve adolescent clinic attendance: a randomized controlled trial. Journal of Paediatrics and Child Health (in press) Sawyer SM, She Smiles. In: Kellehear A (ed). Grief and Remembering. Rivoli: Melbourne (2001) Schulze-Neick I, Li J, Reader JA, Shekerdemian LS, Redington AN and Penny DJ. The endothelin antagonist BQ123 reduces pulmonary vascular resistance in infants after congenital heart surgery. Journal of Thoracic Cardiovascular Surgery (in press)

Sinclair AH. Human Sex Determination. In; Brenner S and Miller JH (eds). Encyclopedia of Genetics. Academic Press: London (2001) Sizonenko S, Sirimanne E, Mayall Y, Williams CE and InderTE. Hypoxia-ischemia in P3 Rats lead to an alteration in subcortical myelination at 21 days. Pediatric Resarch 49(4): 441A (2001) Skinner RS and Nolan T. Adolescent hepatitis B immunisation - should it be the law. The Australian and New Zealand Journal of Public Health (in press) Smart D, Prior M, Sanson A and Oberklaid F. Children

Southwell BR and Furness JB. Immunohistochemical demonstration of the NKl tachykinin receptor on muscle and epithelia in guinea pig intestine. Gastroenterology 120: 1140-1151 (2001)

Stanton H, Ung L and Fosang AJ. The 45kDa collagen­ binding fragment of fibronectin induces matrix metalloproteinase-13 synthesis by chondrocytes and aggrecan degradation by aggrecanases. Biochemical Journal (in press) Steer AC, Carapetis JR, Nolan TM and Shann F. A systematic review of rheumatic heart disease prevalence in children in developing countries; the role of environmental factors. Journal of Paediatrics and Child Health (in press) Storey E, Gardner RJ, Knight MA, Kennerson ML, Tuck RR, Forrest SM and Nicholson GA. A new autosomal dominant pure cerebellar ataxia . Neurology 57: 19131915 (2001)

00

b

z>

OO

Tang MLK and Fiscus L, Important roles for L-selectin and ICAM-1 in the development of allergic airway inflammation in asthma. Pulmonary Pharmacology and Therapeutics 14(3): 203-210 (2001)

04 Z)

o

Tang MLK and Powell CVE. Childhood asthma as an allergic disease: rationale for the development of future treatment. European Journal of Paediatrics 160(12); 696704 (2001) Taylor Gl, Bates D and Newgreen D. The developing neurovascular anatomy of the embryo: a technique of simultaneous fluorescent labelling, confocal microscopy and 3D reconstruction. Plastic and Reconstructive Surgery 108; 597-604 (2001) Thomas PQ, Dattani MT, Brickman JM, Warne G, Zacharin M, Cameron F, Hurst J, Woods K, Dunger D, Stanhope R, Forrest S, Robinson 1C and Beddington RS. Heterozygous HESX1 mutations associated with isolated congenital pituitary hypoplasia and septo-optic dysplasia. Human Molecular Genetics 10; 39-45 (2001) Thomas PQ. Hesxl. Encyclopedia of Molecular Medicine (in press) Thomson-Salo F, Paul C, Morgan A, Jones S, Jordan B, Meehan M, Morse S and Walker A. Le jeu et el travail therapeutique direct avec le nourrisson (Playing and therapeutic work directly with the infant). Devenir 4; 5-26 (2001)

Spurdle AB, Hopper JL, Chen X, Dite GS, McCredie MRE, Giles GG, Venter DJ, Southey MC, Green A, Purdie D and Chenevix-Trench G. The steroid 5 a-reductase type II TA repeat polymorphism is not associated with risk of breast or ovarian cancer in Australian women. Cancer Epidemiology, Biomarkers and Prevention 10(12): 128793 (2001)

Thorburn DR and Dahl HHM. Mitochondrial disorders: genetics, counseling, prenatal diagnosis and reproductive options, American Journal of Medical Genetics 106: 102-114(2001)

Stanton H and Fosang AJ. MMP activity in hostile environments; new insights into IL-1 stimulated aggrecanolysis in cartilage cultures. Matrix Biology (in press)

Thorburn DR and Smeitink J. Diagnosis of mitochondrial disorders: clinical and biochemical approach. Journal of Inherited Metabolic Disease 24: 312-316 (2001)

'I;-

ANNUAL REPORT 200 1

I'

91


,1

Thorburn DR, Dahl HHM and Singh KK. The pros and cons of mitochondrial manipulation in the human germ line. Mitochondrion 1: 123-127 (2001) Toumbourou JW and Gregg ME. Working with families to promote healthy adolescent development. Family Matters 59: 54-60 (2001)

I

Toumbourou JW, Blyth A, Bamberg J and Forer D. Early impact of the BEST intervention for parents stressed by adolescent substance abuse. Journal of Community and Applied Social Psychology 11: 291-304 (2001) Treepongkaruna S, Hughes J, Hutson J, Cook D, CattoSmith AG, Chow CW and Oliver MR. Gastrointestinal transit and anorectal manometry in children with colonic substance P deficiency. Journal of Gastroenterology and Hepatology 16: 624-630 (2001) Tsang VT, Penny DJ. Surgery for congenital heart disease. In: Moghissi K, Thorpe JAC and Ciulli F (eds). Essentials of Thoracic and Cardiac Surgery 2nd Edition. Heinemann Medical Book: London (2001) Van Agtmael T, Forrest SM and Williamson R, Genes for left-handedness: how to search for the needle in the haystack? Laterality 6: 149-164(2001) Vinod MB, Matussek J, Curtis N, Graham HK and Carapetis JR. Duration of antibiotics in children with osteomyelitis and septic arthritis. Journal of Paediatrics and Child Health (in press) Visvader JE, Venter DJ, Santamaria M, Sum E, Hahm K, White D, Mahoney A, O'Reilly L, Armes JE and Lindeman G. The LIM domain protein LM04 inhibits differentiation of mammary epithelium in vitro and is over-expressed in primary breast cancer. Proceedings of the National Academy of Sciences of the United States of America 98(25): 14452-7 (2001) Visvanathan K and Zabriskie JB. The role of bacterial superantigens in sepsis and its treatment implications. Advances in Sepsis 3: 97-102 (2001)

du Sart D, Fleming T and Choo KHA. Mosaic inv dup(8p) marker chromosome with stable neocentromere suggests neocentromerization is a post-zygotic event. American Journal of Medical Genetics 102: 86-94 (2001) Wake M and Reilly S. Now we're talking ... but who are we talking about? Journal of Paediatrics and Child Health 37(5): 421-422 (2001) Wallis TP, Pitt JJ and Gorman JJ. Identification of disulfide-linked peptides by isotope profiles produced by peptic digestion of proteins in 50% 180 water. Protein Science 10: 2251-71 (2001) Wangerek LA, Dahl HHM, Senden TJ, Carlin JB, Jans DA, Dunstan DE, loannou PA, Williamson R and Forrest SM. Atomic force microscopy imaging of DNA-cationic liposome complexes optimised for gene transfection into neuronal cells. Journal of Gene Medicine 3: 72-81 (2001) Warne GL, Dabadghao P and Boneh A. Endocrinology of the Newborn. In: Brook CGD and Hindmarsh P (eds). Clinical Paediatric Endocrinology 4th Edition. Blackwell Scientific Publishers: London (2001) Warne GL, Dabadghao P and Boneh A: Endocrinology of the Newborn. In: Brook CGD and Hindmarsh PC (eds). Clinical Paediatric Endocrinology 4th Edition (2001) Warne GL. The management of ambiguous genitalia at birth. In: Balen A, Creighton S, Davies M, MacDougall J and Stanhope R (eds). The Multidisciplinary Approach to the Management of Paediatric and Adolescent Gynaecology. Cambridge University Press: Cambridge (in press) Waters E, Salmon L, Wake M, Wright M and Hesketh K. The health and wellbeing of adolescents: a school-based population study of the self-report Child Health Questionnaire. Journal of Adolescent Health 29(2): 140149 (2001)

Visvanathan K, Charles A, Pugach P and Zabriskie JB. Superantigenic peptides in septic and toxic shock. Infection and Immunity 69: 875-884 (2001)

Watson M, Watson L, Bell R, Halliday J, The increasing knowledge of the role of periconceptional folate in Victorian women of child-bearing age: follow-up of a randomised community inten/ention trial. Australia and New Zealand Journal of Public Health 25(5): 389-395 (2001)

Voullaire L, loannou P, Nouri S and Williamson R. Fetal nucleated red blood cells from CVS washings: an aid to the development of first trimester non-invasive prenatal diagnosis. Prenatal Diagnosis 21: 827-834 (2001)

Welbury RR and Kilpatrick NM. Advanced restorative treatment in children. In: Welbury (ed). Paediatric Dentistry 2nd Edition, Oxford University Press: Oxford (2001)

Voullaire L, Saffery R, Earle E, Irvine DV, Slater H, Dale S,

Western PS and Sinclair AH. Sex, genes and heat:

triggers of diversity. Journal of Experimental Zoology 290: 624-631 (2001) Westling J, Fosang AJ, Last K, Thompson VP, Tomkinson KN, Hebert T, McDonagh T, Collins-Racie LA, Lavallie ER, Morris EA and Sandy JD. ADAMTS4 cleaves at the aggrecanase site (Glu373-Ala374) and secondarily at the matrix metalloproteinase site (Asn341-Phe342) in the aggrecan interglobular domain. Journal of Biological Chemistry (in press) White SM, Norbury G and Lucassen A. Cystic fibrosis: a further case of an asymptomatic compound heterozygote. American Journal of Medical Genetics 103: 342-343 (2001) Wiberg C, Hedbom E, Khairullina A, Lamande SR, Oldberg A, TimpI R, Morgelin M and Heinegard D. Biglycan and decorin bind close to the N-terminal region of the collagen VI triple helix. Journal of Biological Chemistry 276: 18947-18952 (2001) Wilkinson AJ, Nattrass GR and Graham HK. Modified technique for varus derotation osteotomy of the proximal femur in children, Australian and New Zealand Journal of Surgery 71: 655-658 (2001) Wilkinson JL. Double Outlet Ventricle. In: Anderson RH, Baker EJ, Macartney FJ, Rigby ML, Shinebourne EA and Tynan M (eds). Paediatric Cardiology. Churchill Livingstone: London (2001) Wilkinson JL. Haemodynamic calculations in the catheter laboratory. Heart 85: 113-120 (2001) Williamson R. Our human genome: how can it serve us well? Bulletin of the World Health Organization 79: 1005 (2001)

Wong J, Zacharin M, Hocking N and Robinson R Inhaled flixotide in three children. Journal of Paediatrics and Child Health (in press) Wong LH and Choo KHA, Centromere on the move. Genome Research 11: 513-516(2001) Wraight CJ and White PJ. Antisense oligonucleotides in cutaneous therapy. Pharmacology and Therapeutics 90: 89-104 (2001) Young HM and Newgreen DF. Enteric neural crestderived cells: origin, identification, migration and differentiation. The Anatomical Record 262: 1-15 (2001) Young HM, Hearn CJ, Farlie PG, Canty AJ, Thomas PQ and Newgreen DF. GDNF is a chemoattractant for enteric neural cells. Developmental Biology 229: 503-516 (2001) Zacharin M and Bateman JF. Pamidronate treatment of osteogenesis imperfecta in children: lack of correlation between clinical severity, age at onset of treatment, collagen mutation and treatment response. Journal of Paediatric Endocrinology and Metabolism (in press) Zacharin M, Tiedemann K and Sexton M. Long term effects of cancer treatment: A guide for patients and families, Miranova Publishers: Melbourne (2001) Zhou B, Hutson JM and Myers NA. Investigation of intra­ abdominal oesophagus and hiatus in fetal rats with oesophageal atresia and tracheo-oesophageal fistula. Pediatric Surgery International 17: 97-100 (2001) Zimmet P, Williams J and de Courten M. Diagnosis and classification of diabetes mellitus. In: Wass and Shalet (eds). Oxford Textbook of Endocrinology. Oxford University Press: Oxford (in press)

Wilton L, Williamson R, McBain J, Edgar D and Voullaire L. Birth of a healthy infant after preimplantation confirmation of euploidy by comparative genomic hybridization. New England Journal of Medicine 345(21): 1537-1541 (2001) Winefield HR and Toumbourou JW. Health psychology issues in Australia. Health Psychology Update 10: 40-42 (2001) Wittig I, Augstein P, Brown GK, Fujii T, Rotig A, Rustin P, Munnich A, Seibel P, Thorburn D, Wissinger B, Tamboom K, Metspaiu A, Lamantea E, Zeviani M and Wehnert MS. Sequence variations in the NDUFA1 gene encoding a subunit of complex I of the respiratory chain. Journal of Inherited Metabolic Disease 24: 15-27 (2001)

ANNUAL REPORT 2001

i

92


.riPliiil


Directors' Report

j'l

The Directors present their report together with the financial report of Murdoch Childrens Research Institute "the Company" and the consolidated financial report of the consolidated entity, being the Company and its controlled entities, for the year ended 31 December 2001 and the auditors' report thereon. Directors The Directors of the Company at any time during or since the end of the financial year: Mr. LG. Cox, A.O., B.Com., F.C.P.A., F.S.I.A. Chairman (Non-Executive Director) Mr Cox is an investment banker and a director of various public and private companies and community groups. Director since 1986 appointed Chairman 1993. Mr. W.H. Hodgson Deputy Chairman (Non-Executive Director) Chairman of the Institute's Audit & Finance Committee. Formerly Deputy Managing Director of the National Australia Bank Limited, an

appointment which completed a long career with the Bank. Mr Hodgson is a Director of various public and private companies. Director since 1986. A/Prof. K. Alexander, B.A., PhD Non-Executive Director A/Prof. Alexander is the CEO of the Women's and Children's Health Director since 2000. Mr. M. Armstrong, L.L.B. (Melb.) Non-Executive Director Mr Armstrong is a Lawyer and Partner in Deacons Graham & James. He is also a Director of Carnbrea & Co Ltd, the Jack Brockhoff Foundation Ltd and various other public and private companies and community groups. Director since 1997. Mr. P. Bartels Non-Executive Director Fellow of The Royal Society of the Arts and Honorary Fellow of the Australian Marketing Institute. Chairman of the Australian Sports Commission, The Australian Institute of Sport, The Commonwealth Heads of Government Committee for Sport, Women's & Children's Health Sen/ice and Central City Studios. Director of the Melbourne Business School, Melbourne University. Appointed a Director on 12 December 2001. Mrs. J. Calvert-Jones, A.M., Non-Executive Director Mrs J. Calvert-Jones is the Chairman of the Herald and Weekly Times Limited. Director since 1986. A/Prof. A. Dart, B.A., DPhil, B.M., B.C.H., M.R.C.P, F.R.C.P. Non-Executive Director Senior Principal Research Fellow, NH&MRC

Murdoch Childrens Research Institute A.C.N. 006 566 972 L

and Honorary Professor of Medicine, Department of Medicine, Monash University A/Prof Dart is the NH&MRC representative on the Institute's Board. Appointed a Director on 10 October 2001. Ms. H.M. Davison, B.A., M.B.A., F.C.T. Non-Executive Director Ms Davison was formerly Chairperson of the Women's and Children's Health Director since 2000. Resigned on 10 October 2001. Ms J.M. Fenton, LLB (Hons) MPRIA Non-Executive Director Ms Fenton is a Director of Fenton Communications Director since 2000. Mr. P. Griffin, B.Comm. (Melb), A.S.I.A. Non-Executive Director Chairman of the Institute's Investment Committee. Mr. Griffin is an investment banker and a director of N.M.Rothschild & Sons (Aust) Pty Ltd Group companies, various public companies and community groups. Director since 1993. Professor K. O'Dea, B.Sc. PhD Non-Executive Director Professor O'Dea is the Director of the Menzies School of Health Research, Darwin and represented the NHMRC on the Board Director since 1997. Resigned on 10 October 2001. Mrs. J. Paterson, Dip. Nursing Non-Executive Director Director since 1996.

Professor D.G. Penington, A.C., M.A., D.M., B.Ch., F.R.C.P., F.R.A.C.P., F.R.C.P.A. Non-Executive Director

Professor Penington was formerly the ViceChancellor, University of Melbourne. He is a director of various public and private companies. Director since 1996. Resigned on 12 December 2001. Professor R. Smallwood, A.O., M.D., F.R.A.C.P., F.R.C.P., F.A.C.P. (Hon.) Non-Executive Director Professor Smallwood is the Chief Medical Officer for the Commonwealth of Australia Director since 1998. Professor P.J. Smith, R.F.D., M.D., B.S., F.R.A.C.P., F.R.C.P.A. Non-Executive Director Professor Smith was formerly the Stevenson Professor of Paediatrics & Head, Department of Paediatrics, University of Melbourne. Director since 1997. Resigned on 10 October 2001. Professor G.W. Tregear, B.Sc., PhD., F.R.A.C.I. Non-Executive Director Chairman of the Institute's Commercialisation and I.P. Committee Professor Tregear is the Deputy Director of the Howard Florey Institute of Experimental Physiology and Medicine. Professor Tregear represents the NH&MRC on the Institute's Board. Director since 1994. Professor R. Williamson, PhD., F.R.C. Path., Hon. M.R.C.P., Hon.M.D. (Turku), F.R.S. Executive Director Professor Williamson is the Chairman of the Victorian Clinical Genetics Services. He is also the Professor of Medical Genetics for the University of Melbourne and the Director of the Institute. Director since 1995.

ANNUAL REPORT 2001

94


Directors' Meetings

Indemnification and Insurance of Officers

The number of directors' meetings and number of meetings attended by each of the Directors of the Company during the financial year were:

Director

Mr LG Cox AO Mr WH Hodgson Dr K Alexander Mr MJ O'D Armstrong Mr P Bartels Mrs J Calvert-Jones AM Professor A Dart Ms HM Davison Ms J Fenton Mr PJ Griffin Professor K. O'Dea Mrs J Paterson Professor DG Penington AC Professor G Tregear Professor R Smallwood AO Professor PJ Smith Professor R Williamson

Board Meetings A

B

6

6 5

6 6 6

1 6 2 4

6 4 6

0 4 6

6

B 2

A

2

B

2

A 3 3

B 3 3

3

2

1

6

6 5 6

A 4

6 5 0 6 3 5 5 0 6 5 5

6

Investment Commercialisation Audit Committee / IP Committee & Finance

4

Since the end of the previous financial year the Company has paid insurance premiums of $27,807.00 for insurance contracts in respect of directors', officers', and employees liability, and legal expenses, for current and former directors and officers, including executive officers of the Company and directors, executive officers and secretaries of its controlled entities. The insurance premiums relate to: • costs and expenses incurred by the relevant officers and employees in defending proceedings, whether civil or criminal and whatever their outcome; and • other liabilities that may arise from their position, with the exception of conduct involving a wilful breach of duty or improper use of information or position to gain a personal advantage.

3

2

2

A - Number of meetings held during the time the director held office during the year B - Number of meetings attended

Principal Activities The principal activities of the consolidated entity during the course of the financial year were to conduct medical research into conditions that affect babies, children and adolescents.

The insurance policies outlined above do not contain details of the premiums paid in respect of individual officers of the Company.

Dividends The Company is a company limited by guarantee. As such it has no share capital and no dividends are paid.

State of Affairs In the opinion of the Directors there were no significant changes in the consolidated entity's state of affairs during the financial year under review.

Likely developments Information about likely developments in the operations of the consolidated entity and the expected results of those operations in future financial years has not been included in this report because disclosure of the information would be likely to result in unreasonable prejudice to the consolidated entity.

I:

Events Subsequent to Balance Date There has not arisen in the interval between the end of the financial year and the date of this report any item, transaction or event of a material and unusual nature likely, in the opinion of the Directors of the Company, to affect significantly the operations of the consolidated entity, the results of those operations, or the state of affairs of the consolidated entity, in subsequent financial years.

ij

Dated at Melbourne this 3rd day of April 2002. Signed in accordance with a resolution of the Directors:

Consolidated Result/Review of Operations The consolidated operating surplus of the consolidated entity for the financial year ending 31 December 2001 was $155,963 (2000 surplus $252,790) before the extraordinary items.

Mr Laurence G Cox AO Chairman

ANNUAL REPORT 2001

95

Ij i!


Murdoch Childrens Research Institute and its Controlled Entities

Statements of Financial Performance for the year ended 31 December 2001 Notes

Consolidated 2000

The Company 2001 2000

2001 $

$

$

$

Revenue from research & clinical activities

2

27,422,670

18,462,762

19,160,316

11,335,176

Depreciation & amortisation Other expenses for research & clinical activities

2 2

(965,535) (29,519,157)

(540,669) (21,009,243)

(926,616) (21,250,623)

(514,560) (13,899,923)

(3,062,022)

(3,087,150)

(3,016,923)

(3,079,307)

3,102,496 1,150,000

3,339,940

3,053,373 1,150,000

3,327,128

ill 1,190,474

252,790

1,186,450

247,821

1,190,474

7,821,116 8,073,906

1,186,450

7,821,116 8,068,937

Surplus/(Deficit) on research & clinical activities Investment & Donation Revenue Commercialisation Income

2 2

Surplus/(Deficit) from Ordinary Activities | Extraordinary items Net surplus Increase In asset revaluation reserve - on Initial adoption of AASB 1041:Revaluation of Non-current Assets - Fair value adjustment Total valuation adjustments recognised directly In Members Funds Total changes in Members Funds ... j „ ,

3

I

10(a) 10(a)

124,682 513,728

124,682 513,728

638,410 1,828,885

638,410 1,824,860 ' “ "8lis5|7^

The Statements of Financial Performance are to be read in conjunction with the attached notes to the financial statements set out on pages 99 to 109.

ANNUAL

REPORT

200 1

96


Murdoch Childrens Research Institute and its Controlled Entities

Statements of Financial Postition as at 31 December 2001 Notes

Consolidated

The Company 2001 2000 $ $

2001 $

2000 $

2,546,508 3,565,300 205,642 6,317,450

1,154,403 2,834,856 200,826 4,190,085

1,701,960 2,146,914

554,417 1,323,629

3,848,874

1,878,046

4 5 6

580,000 27,940,657 3,874,226 32,394,883 38,712,333

652,500 28,936,182 3,221,739 32,810,421 37,000,506

587,968 27,832,699 3,738,016 32,158,683 36,007,557

660,468 28,828,214 3,096,077 32,584,759 34,462,805

Current Liabilities Payables Provisions TOTAL CURRENT LIABILITIES

7 8

2,323,669 3,064,014 5.387,683

2,832,332 2,641,625 5,473,957

1,657,765 1,810,232

2,141,129 1,566,821

3,467,997

3,707,950

Non-current Liabiiities Payables Provisions TOTAL NON-CURRENT LIABILITIES IrOTAL LIABILITIES

8

82,175 457,447 539,622 Si”: 5,927,305

149,412 421,111 570,523 6,044,480

28,028 242,175 270,2033,738,200

59,035 251,441 310,476 4,018,426

32,785,028

30,956,026

32,269,357

30,444,379

515,671 26,258,827 2,600,000 1,000,000 1,372,120 1,038,410 32,785,028

511,647 24,920,248 2,600,000 1,000,000 1,524,131 400,000

26,258,827 2,600,000 1,000,000 1,372,120 1,038,410

30,956,026

32,269,357

Current Assets Cash assets Receivables Other financial assets TOTAL CURRENT ASSETS

4 5

Non-current Assets Receivables Other financial assets Property, plant & equipment TOTAL NON-CURRENT ASSETS TOTAL ASSETS

|JET ASSETS

______

7

■ Si'

Members' Funds Accumulated funds Permanent Investment Funds Building Development Fund Fellowships & Scholarships Fund Special Purpose Funds Asset Revaluation Reserve ;T07AL MEMBERS' FUNDS

■T

9

10(c) 10(d) 10(e) 10(b) 10(a)

24,920,248 2,600,000 1,000,000 1,524,131 400,000 30,444,379

.The Statements of Financial Position are to be read in conjunction with the attached notes to the financial statements set out on pages 99 to 109. ANNUAL

REPORT

2001

97

;■


Murdoch Childrens Research Institute and its Cantrolled Entities

Statements of Cash Flows for the year ended 31 December 2001 Notes

CASHFLOWS FROM OPERATING ACTIVITIES Payments to suppliers and employees Government grants received Donations received Other receipts Interest received Patient fees received

Consolidated

2001 $

2000 $

(29,458,364) 8,695,357 2,075,609 14,890,263 96,243 3,196,556

(19,411,751) 7,244,218

(504,336)

The Company 2001 2000 $ $

(21,697,628) 4,504,375 2,075,609 14,275,168 58,573

(12,827,740) 3,412,414 1,339,087 7,113,149 104,981 28,036

(479,704)

(783,903)

(830,073)

735,344 3,600,000 (816,461) (1,618,022)

2,004,181 2,074,881 (7,057,889) (911,709) 5,150,680

716,066 3,500,000 (716,065) (1,568,555)

1,988,041 1,800,000 (6,783,377) (900,585) 5,150,680

NET CASH PROVIDED BY/(USED IN) INVESTING ACTIVITIES

1,900,861

1,260,144

1,931,446

1,254,759

NET INCREASE/(DECREASE) IN CASH HELD

1,396,525

780,440

1,147,543

424,686

CASH AT BEGINNING OF THE FINANCIAL YEAR

1,180,717

400,277

554,417

129,731

2,577,242

1,180,717

1,701,960

554,417

NET CASH PROVIDED BYAUSED IN) OPERATING ACTIVITIES

12(ii)

CASH FLOWS FROM INVESTING ACTIVITIES Interest received Proceeds on sale of investments Payment for investments & amounts reinvested Payment for property, plant and equipment Cash acquired from RCHRI

CASH AT END OF THE FINANCIAL YEAR

12(i)

1,351,899 8,124,814 130,780 2,080,336

The Statements of Cash Flows are to be read in conjunction with the attached notes to the financial statements set out on pages 99 to 109.

ANNUAL

REPORT

2001

98


Murdoch Childrens Research Institute and its Contralled Entities

Notes to the Financial Statements for the year ended 31 December 2001 1. Statement of Significant Accounting Policies The significant policies which have been adopted in the preparation of this financial report are: (a) Basis of Preparation The financial report is a general purpose financial report which has been drawn up in accordance with Accounting Standards, Urgent Issues Group Consensus Views, other authoritative pronouncements of the Australian Accounting Standards Board and the Corporations Act 2001. It has been prepared on the basis of historical costs and does not take into account changing money values or, except where stated, current valuations of noncurrent assets. The accounting policies have been consistently applied by the entities in the consolidated entity and except where there is a change in accounting policy are consistent with those of the previous year. (b) Reclassification of financial information Some line items and sub-totals in the previous financial year have been reclassified and repositioned in the financial statements as a result of the first time application on 1 January 2001 of the revised standards AASB 1018 Statement of Financial Performance, AASB 1034 Financial Report Presentation and Disclosures and the new AASB 1040 Statement of Financial Position. Adoption of these standards has resulted in the transfer of the reconciliation of opening to closing accumulated funds from the face of the statement of financial performance to note 9. (c) Principles of Consolidation The consolidated financial statements include the financial statements of The Company, being the parent entity, and its controlled entities, for the year ended 31 December 2001. All balances and transactions between the parent entity and it's controlled entities have been eliminated.

Il

(d) Investments Shares in controlled entities are carried in the Company's financial statements at the lower of cost or recoverable amount. Investments in debentures are carried at the lower of cost or recoverable amount and commercial bonds are recorded at face value. Investments in trusts/equity units are measured at fair value being the current redemption value. Shares in listed entities are carried at the lower of cost or recoverable amount. (e) Property, Plant and Equipment Items of property, plant and equipment are recorded at cost. The depreciable amounts of all items of plant and equipment are depreciated over their estimated useful lives commencing from the time the asset is held ready for use. The straight line method of depreciation is used. Items of plant and equipment costing less than $5,000 are expensed. The depreciation rates used for each class of assets are as follows: • Leasehold improvements • Plant & equipment

over lease lifespan 10% to 33.3%

Leasehold improvements are amortised over the span of the lease not exceeding 20 years. (f) Prepayments Items of expenditure having a benefit or relationship to more than one accounting period are amortised over the periods to which they relate.

Long Service Leave The liability for employee entitlements to long service leave represents the present value of the estimated future cash outflows to be made by the employer resulting from employees' services provided up to the balance date. Liabilities for employee entitlements which are not expected to be settled within twelve months are discounted using the rates attaching to national government securities at balance date, which most closely match the terms of maturity of the related liabilities.

;|:i

In determining the liability for employee entitlements, consideration has been given to future increases in wage and salary rates, and the consolidated entity's experience with staff departures. Related on-costs have also been included in the liability. 'i:

(h) Income Tax The Company and the Victorian Clinical Genetics Services are exempt from income tax under Division 50-5 of the Income Tax Assessment Act 1997. Other controlled entities do not currently trade.

::'l

(i) Revenue Recognition Fee revenue comprises revenue earned from the provision of services to entities outside the consolidated entity. Fee revenue is recognised when the fee in respect of services provided is receivable. Grant revenue for operating purposes is recognised as revenue as it accrues.

(g) Employee Entitlements

(j) Research & Development Expenditure Research and development expenditure is expensed as incurred.

Annual Leave The provisions for employee entitlements to annual leave represents the amount which the consolidated entity has a present obligation to pay resulting from employees' services provided up to balance date. The provisions have been calculated at nominal amounts based on current wage and salary rates and include related on-costs.

(k) Goods and Services Tax Revenues, expenses and assets are recognised net of the amount of goods and services tax (GST), except where the amount of GST incurred is not recoverable from the Australian Tax Office (ATO). In these circumstances the GST is recognised as part of the cost of acquisition of the asset or as part of an item of the expense.

ANNUAL

REPORT

iii

s

1:1;

2001

99


5.,

iSir! ; r=

Receivables and payables are stated with the amount of GST included. The net amount of GST recoverable from, or payable to, the ATO is included as a current asset or liability in the balance sheet. Cash flows are included in the statement of cash flows on a gross basis. The GST components of cash flows arising from investing and financing activities which are recoverable from, or payable to, the ATO are classified as operating cash flows. (I) Receivables The majority of trade debtors would be expected to be settled within 90 days and are carried at amounts due. The collectibility of debts is assessed at balance date. (m) Payables Liabilities are recognised for amounts to be paid in the future for goods and services received by the Company. Trade accounts payable are normally settled within 10 days.

'i

(n) Recoverable amount of non-current assets valued on cost basis The carrying amounts of all non-current assets valued on the cost basis are reviewed to determine whether they are in excess of their recoverable amount at balance date. If the carrying amount of a non-current asset exceeds the recoverable amount, the asset is written down to the lower value. In assessing recoverable amounts the relevant cash flows have not been discounted to their present value.

tax assets and other assets measured at net market value where the market value movements are recognised in the statement of financial performance. The consolidated entity has applied AASB 1041 as follows.

T

Other financial assets The company has continued to apply the cost basis of valuation for shares and units in controlled entities and for unlisted shares in associates. The consolidated entity has adopted the fair value basis of valuation for interests in trusts/equity units. The fair value of listed shares is their current quoted market value. The change in accounting policy resulted in a revaluation increment of $124,682 (the Company $124,682) credited to the asset revaluation reserve at 1 January 2001, representing prior year unrecognised revaluations.

/• -

The consolidated entity has continued to apply the cost basis of valuation to shares in listed entities and to debentures. Other non-current assets The consolidated entity has continued to apply the cost basis for other non-current assets such as receivables and plant and equipment.

i (o) Change in Accounting Policy Revaluation of non-current assets The consolidated entity has applied AASB 1041 Revaluation of Non-Current Assets for the first time from 1 January 2001. The standard requires each class of non-current asset to be measured on either the cost or fair value basis. AASB 1041 does not apply for inventories, foreign currency monetary assets, goodwill, investments accounted for using the equity method, deferred

ANNUAL REPORT 200 1 100


Consolidated

2001

2000

$

$

2. Operating Surplus

The Company 2001 2000 $

$

Operating surplus before extraordinary items has been determined after charging and crediting the following items: Crediting As Revenue Revenue from operating activities Grants-NHMRC Grants-DHS Grants - other Patient fees POSSUM Sales Income - other

3,410,916 5,320,656 11,390,782 3,202,900 141,343 3,956,073 27,422,670

2,590,578 4,569,650 6,531,709 2,340,538 121,314 2,308,973 18,462,762

20,461,629 317,507 4,909,931 629,308 672,326 38,289 406,334 1,498,684 790,836 98,179 486,970 174,699 30,484,692

13,268,178 826,620 3,840,195 217,203 418,761 45,510 305,047 1,541,637 365,970 78,950 467,142 174,699 21,549,912

Operating Surpius/(Deficit) from Research & Clinicai activities Investment income Donations *Commercialisation income

(3,062,022) 1,026,887 2,075,609 1,150,000

Operating Surplus before extraordinary items

1,190,474

Charging as expense Salarles/wages, Incl. Superannuation Employee entitlements Laboratory Consumables Repairs & maintenance Travel Patient care services and clinical research Expenses through Special Purpose Eunds Central services & administration Depreciation POSSUM costs Education / ethics costs Amortisation

K

1

3,410,916 979,378 11,191,666 141,343 3,437,013 19,160,316

2,590,578 960,325 6,045,042 28,036 121,314, I,589,881 II,335,176

14,195,718 76,628 3,785,044 429,607 576,416

8,442,991 336,118 2,762,935 217,203 317,105

406,334 1,261,645 751,917 98,179 421,052 174,699 22,177,239

305,047 972,432 339,861 78,950 467,142 174,699 14,414,483

(3,087,150) 1,988,041 1,351,899

(3,016,923) 977,764 2,075,609 1,150,000

(3,079,307)

252,790

1,186,450

247,821

1,988,041 1,339,087

Total expenses incurred by the Company are for Research & Development Proceeds on sale/transfer of investments

2,074,881

1,800,000

‘Commercialisation income is made up of 11,250,000 shares in Antisense Therapeutics Ltd, held in escrow & valued at estimated fair market value at the date of acquisition.

ANNUAL

REPORT

200 1

101


Consolidated '■i

2001 $

2000 $

The Company 2001 2000 $ $

3. Extraordinary Item 111

Gain from Net Asset transfer of Royal Children's Hospital Research Institute

7,821,116 7,821,11^

7,821,116 7,821,116

<•

Effective 30 April 2000 the net assets of the Royal Children's Hospital Research Institute (RCHRI) were transferred to Murdoch Childrens Research Institute for no consideration. Refer to Note 12 (iii) for details of Net Asset transferred.

4. Receivables CURRENT Patient fees due Less provision for doubtful debts

585,979

579,635

::;585,979

579,635

Amount owing by controlled entity Debtors - sundry Prepayments TOTAL CURRENT RECEIVABLES

2,906,821 72,500 3,565,300

2,182,721 72,500 2,834,856

2,074,414 72,500 2,146,914

1,251,129 72,500 1,323,629

NON-CURRENT Loan to controlled entity Prepayments TOTAL NON-CURRENT RECEIVABLE^ g

580,000 580,000

652,500 652,500

7,968 580,000 587,968

7,968 652,500 660,468

4,145,300

3,487,356

2,734,882

1,984,097

74,908 100,000 30,734 205,642

74,512 100,000 26,314 200,826

IPlili

1,550,000 100,000 26,282,689 7,968 27,940,657

400,000 100,000 28,428,214 7,968 28,936,182

i; ^

I

TOTAL RECEIVABLES

' /r

5. Other Financial Assets CURRENT- at cost Bank bills and deposits Commercial bond Short term deposits I NON-CURRENT Shares in controlled entities (Note 18) Shares in listed entities Debenture stock Interest in trusts/Equity Units Interest in R & D Syndicate*

10 1,550,000

4 400,000

26,282,689

28,428,210

27,832,699

28,828,214 ANNUAL REPORT 2001 102


Consolidated

The Company 2001 2000 $ $

2001 $

2000 $

REDEMPTION VALUE OF INTEREST IN TRUSTS/EQUITY UNITS

26,282,689

28,531,684

26,282,689

28,531,684

MARKET VALUE OF LISTED INVESTMENTS

3,893,750

680,000

3,893,750

680,000

* From the Antisense Therapeutics Ltd shares held by the Company, it has issued 3,375,000 share options to researchers involved in the development of the project The options are exercisable at a price of 0.77 cents per share prior to 7th August 2004.

6. Property, plant & equipment Leasehold Improvements At cost Accumulated amortisation Plant & equipment At cost Accumulated depreciation

NET BOOK VALUE

S«ll

;

2,686,865 (797,913) 1,888,952

2,370,203 (623,214) 1,746,989

2,686,865 (797,913) 1,888,952

2,370,203 (623,214) 1,746,989

4,359,890 (2,374,616) 1,985,274

3,058,530 (1,583,780) 1,474,750

4,089,429 (2,240,365) 1,849,064

(1,488,448) 1,349,088

3,874,226

3,221,739

3,738,016

3,096,077

1,746,989

1,921,688

1,746,989

1,921,688

2,837,536

Reconciliations Leasehold Improvements Carrying Amount at beginning of year Additions Amortisation Carrying Amount at end of year

Lt'

Plant & equipment Carrying Amount at beginning of year Additions Transferred from RCHRI Depreciation Carrying Amount at end of year

316,662 (174,699) 1,888,952

(174,699) 1,746,989

1,474,750 1,301,360

397,482 911,709 531,529 (365,970) 1,474,750

(790,836) 1,985,274

316,662 (174,699) 1,888,952

1,349,088 1,251,893 (751,917) 1,849,064

(174,699) 1,746,989

256,835 900,585 531,529 (339,861) 1,349,088

ANNUAL

REPORT

2001

103


■i

7. Accounts Payable Consolidated 2001 2000 CURRENT Grants received in advance Royal Children's Hospital Sundry accounts payable

:

*

f

The Company 2001 2000

$

$

$

$

114,080 1,196,991 1,012,598 2,323,669

1,475,746 1,356,586 2,832,332

114,080 910,550 633,135 1,657,765

971,006 1,170,123 2,141,123;

NOTE: Royal Children's Hospital is a suspense account used for payments to creditors. The Hospital pays the creditors on behalf of the Institute, and the Institute subsequently reimburses the Hospital. NON-CURRENT Special purpose funds TOTAL ACCOUNTS RATABLE A

82,175 2,405,844

149,412 2,981,744

28,028 1,685,793

59,035 2,200,164

1,312,737 1,376,277 375,000 [3,064,014

1,012,589 1,254,036 375,000 2,641,625

817,047 618,185 375,000 1,810,232

644,170 547,651 375,000 1,566,821

457,447 3,521,461

421,111 3,062,736

242,175 2,052,407

251,441 1,818,262

511,647 1,190,474 152,011 (1,338,461)

22,482,120 8,073,906 (1,524,131) (24,920,248) (2,600,000) (1,000,000) 511,647

8. Provisions CURRENT Annual leave Long Service Leave RCH Lab Development NON-CURRENT Long Service Leave

9. Accumulated Funds !l

Accumulated funds at beginning of year Net surplus Transfer from/to Special Purpose Fund Transfer to Permanent Investment Fund Transfer to Building Development Fund Transfer to Fellowships & Scholarships Fund Accumulated funds at financial year end

515,671

21,975,442 1,186,450 152,011 (1,338,461)

8,068,937 (1,524,131) (24,920,248) (2,600,000) (1,000,000)

ANNUAL REPORT 2001 104


10. Reserves And Funds Consolidated

(a) Asset Revaluation Reserve Balance at beginning of year Net effect on initial adoption of AASB 1041 :Revaluation of Non Current Assets Revaluation increment on trusts/equity units Balance at end of year

2001 $

2000 $

The Company 2001 2000 $ $

400,000

400,000

400,000

400,000

400,000

124,682 513,728 1,038,410

400,000

124,682 513,728 1,038,410

The asset revaluation reserve includes the net revaluation increments and decrements arising from the revaluation of non-current assets in accordance with AASB 1041. (b) Special Purpose Funds Balance at beginning of year Transfer from RCHRI* Net Movement Balance at end of year

1,524,131 (152,011) 1,372,120

1,524,131 1,829,178 (305,047) 1,524,131

(152,011) 1,372,120

1,829,178 (305,047) 1,524,131

24,920,248 1,338,579 26,258,827

24,920,248 24,920,248

i

•Balances in Special Purpose Funds transferred from the Royal Children's Hospital Research Institute as at 30 April 2000. This Is Included In the Net Assets Transferred referred to In Note 3.

(c) Permanent Investment Fund Balance at beginning of year Transfer from accumulated funds Balance at end of year (d) Building Development Fund Balance at beginning of year Transfer from accumulated funds Balance at end of year (e) Fellowships & Scholarships Fund Balance at beginning of year Transfer from accumulated funds Balance at end of year

24,920,248

1,338,579 26,258,827

24,920,248 24,920,248

2,600,000 2,600,000

2,600,000 2,600,000 2,600,000

1,000,000 1,000,000

2,600,000

2,600,000 2,600,000

1,000,000 1,000,000 1,000,000

1,000,000

1,000,000 1,000,000

ANNUAL

REPORT

2001

105


( !

T1. Additional Financial Instruments Disclosure (a) Interest Rate Risk The consolidated entity's major financial assets are an investment portfolio managed by Credit Suisse, Wellington's, Merril Lynch and State Street Global Advisers, a bank account, trade receivables and intercompany receivables. The investment portfolio includes fixed interest deposits, indexed bonds and property trusts. The average effective interest rate of the bank account was 1 % at 31 December 2001. 'i

Trade and intercompany receivables and payables are non-interest bearing.

i

The consolidated entity does not enter into derivative contracts to alter interest rate exposure. (b) Foreign Exchange Risk The consolidated entity does not enter into forward foreign exchange contracts. (c) Credit Risk Credit risk represents the accounting loss that would be recognised at the reporting date if counterparties failed to perform as contracted. The credit risk on financial assets which have been recognised on the balance sheet approximates the carrying amount. The consolidated entity is not materially exposed to any individual customer or counterparty. (d) Net Fair Values of Financial Assets and Liabilities The estimated redemption value of interests in Trusts/Equity Units and market value of listed investments are shown in Note 5. The Directors consider that the carrying amount of other recognised financial assets and liabilities approximates their net fair values.

12. Notes to the Statements of Cash Flows (i) Reconciliation of Cash. For the purposes of the Statements of Cash Flows, the entity considers cash to include cash on hand and at bank and short term deposits at call. Cash as at the end of the reporting period as shown in the Statements of Cash Flows is reconciled to the related items in the Balance Sheets as follows: Company Consolidated 2000 2001 2000 2001

CASH SHORTTERM DEPOSITS

$

$

$

$

2,546,508 30,734 2,577,242

1,154,403 26,314 1,180,717

1,701,960

554,417

1,701,960

554,417 ANNUAL REPORT 200 1 106 -

■*

'i


(ii) Reconciliation of Net Cash Provided by/(Used) in Operating Activities Consolidated

fe.

The Company 2001 2000 $ $

2001 $

2000 $

Operating Surplus Add/(Less) Non Cash Items

1,190,475

252,790

1,186,450

247,821

Depreciation & Amortisation Amounts set aside to Provisions Commercialisation income

965,535 317,507 (1,150,000)

540,669 527,607

926,616 76,628 (1,150,000)

514,560 95,469

Add/(Less) Items classified as investing activities Gain on sale of investments Dividends and amounts reinvested Interest/Distributions Received

(919,191) (15,632)

(16,140)

388,694

(683,115)

120,503

(1,130,191)

(530,198) (6,344)

(467,783) (260,202)

(610,342)

(538,107)

72,500 (490,933) 114,080 (221,498) 28,146 141,218

72,500 616,699 (138,489) 380,686

(173,006) 72,500 (289,856) 114,080 (203,445) 28,146 157,517

240,200 72,500 341,692 (138,489) 322,322

(504,336)

(479,704)

(783,903)

(830,073) *

Net cash provided by operating activities before a change in assets and liabilities Add/(Less) Changes in Assets & Liabilities (lncrease)/Decrease in Debtors - Sundry (lncrease)/Decrease in Patient Fees Due lncrease/(Decrease) in Amount owing to Controlled Entity (lncrease)/Decrease in Prepayments lncrease/(Decrease) in Accounts Payable lncrease/(Decrease) in Grants in Advance lncrease/(Decrease) in Accrued Expenses lncrease/(Decrease) in Special Purpose Eunds lncrease/(Decrease) in Employee Provisions NET CASH PROVIDEDAUSED) BY OPERATING ACTIVITIES

(1,988,041)

(1,988,041) (919,191)

(iii) Acquisition S'i'

Ii.’

During the last financial year (2000) the company acquired 100% of the net assets of Royal Children's Hospital Research Institute. Details of the acquisition are: Consideration

r

ANNUAL REPORT 2001 107


L,

Consolidated 2000 2001

The Company 2000 2001

$

$

531,529 619,670 7,968 5,150,680 2,886,729 (407,498) (375,000) (592,962) 7,821,116

-

531,529 619,670 7,968 5,150,680 2,886,729 (407,498) (375,000) (592,962) 7,821,116

28,500

17,460

20,000

435,491

379,121

266,6gT‘™“'"™2f2WT

$

$

Fair value of net assets acquired

1:

Property, plant and equipment Receivable - RCH Loan to controlled entity Cash Investments Trade creditors Provision for lab development Other provisions

!l i!

13. Remuneration of Auditors Audit services: Auditors of the company - KPMG

:

7,860

:

14. Directors' Remuneration ■«

llbtal income paid or payable, or otherwise made I available, to all Directors of the Company and of leach entity in the consolidated entity from the Company ?or any related party.

The number of Directors of the Company whose total income from the Company or any related partyfalls within the following bands:

$0 $210,000 $230,000 $260,000

$9,999 $219,999 $239,999 $269,999

NO. 15

NO. 15 1

1

Non executive Directors are not remunerated. Superannuation contributions paid in respect of Directors are included in total income received.

15. Liability of Members In accordance with the Articles of Association, in the event of the company being wound up, members may be called upon to make a subscription not exceeding ten dollars. As at the 31 December 2001 the number of members of the Company is 75. ANNUAL REPORT 200 1 108


16. Related Party Disclosures Directors The names of each person holding the position of director of Murdoch Childrens Research Institute during the financial year: Mr. L.G. Cox Ms. J. Calvert-Jones Mrs. J.M. Fenton Mr. P. Griffin Mrs. J. Paterson

Professor PJ. Smith Mr. M. Armstrong Ms. H.M. Davison Mr. W.H. Hodgson Professor D.G. Penington

Professor G. Tregear A/Prof. K. Alexander Professor K. O'Dea Professor R. Smallwood Professor R. Williamson

Mr. P. Bartels A/Prof. A. Dart

Transactions with the Company or its controlled entities No director has entered into a material contract with the Company or the consolidated entity since the end of the previous financial year and there were no material contracts involving directors' interests existing at year end. Wholly-owned group Financial assistance is provided by the Company to a controlled entity by way of infrastructure and overheads. Included in sundry debtors payable in Note 4 are amounts receivable from the wholly-owned controlled entity by the company at balance date of $8,355 (2000, $164,651 payable).

17. Segment Information The principal activities of the consolidated entity during the course of the financial year were to conduct medical research into conditions that effect babies, children and adolescents.

18. Particulars in Relation to Controlled Entities Name Victorian Clinical Genetics 5ervices Ltd Foundation Biotech Pty Ltd BN Investments Pty Ltd Ausgenics Pty Ltd Technology Commercialisation Entity Pty Ltd SciBAC Pty Ltd

Note (i) (ii) (ii) (ii)

2001 100% 91% 100% 100% 100% 100%

2000 100% 100% 100%

All controlled entities are incorporated in Australia (i) 9% of shares were disposed of during the year (ii) Acquired during 2001 for a consideration of $2 ANNUAL REPORT 2001 109


Murdoch Childrens Research Institute and its Controlled Entities

Directors' Declaration

Independent Audit Report to the Members of the Murdoch Childrens Research Institute

1. In the opinion of the directors of Murdoch Childrens Research Institute:

Scope

Audit Opinion

We have audited the financial report of Murdoch Childrens Research Institute for the financial year ended 31 December 2001, consisting of the statements of financial performance, statements of financial position, statements of cash flows, accompanying notes, and the directors' declaration set out on pages 6 to 20. The financial report includes the consolidated financial statements of the consolidated entity, comprising the Company and the entities it controlled at the end of the year or from time to time during the financial year. The Company's directors are responsible for the financial report. We have conducted an independent audit of this financial report in order to express an opinion on it to the members of the Company.

In our opinion, the financial report of Murdoch Childrens Research Institute is in accordance with:

(a) the financial statements and notes set out on pages 6 to 19 are in accordance with the Corporations Act 2001, including: (i) giving a true and fair view of the financial position of the Company and consolidated entity as at 31 December 2001 and of their performance, as represented by the results of their operations and their cash flows, for the year ended on that date; and (ii) complying with Accounting Standards and the Corporations Regulations 2001; and

i'

(b) there are reasonable grounds to believe that the Company will be able to pay its debts as and when they become due and payable.

Dated at Melbourne this 3rd day of April 2002. Signed in accordance with a resolution of the directors:

Mr Laurence G Cox AO Chairman

(a) the Corporations Act 2001, including: i) giving a true and fair view of the Company's and the consolidated entity's financial position at 31 December 2001, and of their performance for the year ended on that date; and ii) complying with Accounting Standards and Corporations Regulations 2001; and (b) other mandatory professional reporting requirements. Dated at Melbourne this 3rd day of April 2002.

Our audit has been conducted in accordance with Australian Auditing Standards to provide reasonable assurance whether the financial report is free of material misstatement. Our procedures included examination, on a test basis, of evidence supporting the amounts and other disclosures in the financial report, and the evaluation of accounting policies and significant accounting estimates. These procedures have been undertaken to form an opinion as to whether, in all material respects, the financial report is presented fairly in accordance with Accounting Standards and other mandatory professional reporting requirements and statutory requirements in Australia so as to present a view which is consistent with our understanding of the Company's and the consolidated entity's financial position, and performance as represented by the results of their operations and their cashflows.

KPMG Chartered Accountants

___ R J Douglas Partner

il

The audit opinion expressed in this report has been formed on the above basis. ANNUAL

REPORT

200 1

110


Financial Summaty The Year In Brief ,r

1999 $12,263,874 181 12 193

Expenditure on Research Number of Staff Number of Students Total Number of Staff & Students

2000 $21,549,912 420 37 457

Operating Revenue

23.10

89.19 28.45

35

30

30

25

25

(A

i w

41.46

Operating Expenditure

35

0

%Change for Last Year

2001 $30,484,692 517 70 587

20

20

li

:= E

w

10

15 10

y

5

5

0

0 1993

1994

1995

1996

1997

1998

1999

2000

2001

1993

1994

1995

1996

1997

Year

Year

Income - Source of Funds

Expenses - Application of Funds

1998

1999

2000

2001

3%

Clinical Services

I Other Income

I

I Donations

I

I Investment Income

I Clinical Services

I

I Education & Ethics

1*

Research Grants I

I

Operating & Maintenance I

'S! 59%

ii

1%

If

I Administration Development & Fund Raising Research Groups

6% I

I Services Labs

4% 1% 51%

ANNUAL REPORT 2001 111


1

*

Im m i

itm


Our Supporters Juvenile Diabetes Foundation

Rockman Charitable Fund

Donors - Organisational

Kidney Foundation

Uncle Bobs Club

Ballarat Grammar School

Kimberley Foundation

Victorian Trauma Foundation

Beta Sigma

LEW Carty Charitable Fund

The Wellcome Trust

Cardiology Department RCH

The Miller Foundation Ltd

Windemere Foundation

Catholic Regional College

Mitzutani Foundation

William Angliss Charitable Fund

Cleftpals Victoria

Muscular Dystrophy Association USA

William Buckland Foundation ANZ

Croydon Primary School

National Heart Foundation

Corporate Donors

Institute for Horticultural

Foundations and Trusts

Percy Baxter Charitable Fund

Brunswick Medical Group

Development

Annamila

Pierce Armstrong Foundation

Credit Suisse First Boston

Kingswood College

Apex Foundation

Pratt Foundation

Deacons

Lome Tennis Association Australia

Australian Drug Foundation

Ramaciotti Foundation

ECA Asia Pacific

Maurice Hall

Bell Charitable Fund

Rebecca L Cooper Medical Research Foundation

Fenton Communications

Mayfield

Foursight Associates Pty Ltd

Melbourne Grammar School

Beyond Blue

Gadens Lawyers

Methodist Ladies' College

Danar Pty Ltd

GP Embelton and Co

MI7

Dara Foundation

Health Information Services

Opthalmic Research Institute

Darinka Pty Ltd

Herald and Weekly Times

RMIT University

Ebony Forbes Trust

Highpoint Shopping Centre

Rotary Club of Camberwell

Garnett Passe and Rodney Williams Memorial Foundation

Macquarie Bank

Rotary Club of Footscray

Marketing Direct Australia

Royal College of Physicians

Gotta Get A Life Foundation

Orica

Southvale Primary School

H and L Hecht Trust

Pacific Rim Marketing Group

St John Paul College

Helen Macpherson Smith Trust

PMP Print

Thalassaemia Society of Victoria Inc

Hugh DT Williamson Foundation

Rider Hunt Melbourne

Urological Society of Australia

The Ian Potter Foundation

RMC

YAFFA

The Jack Brockhoff Foundation

The Coulson Group Pty Ltd

JB Were and Sons Charitable Fund

The In Group

Murdoch Childrens Research Institute thanks all our supporters in 2001... Patron Dame Elisabeth Murdoch AC DBE

Besen Family Foundation

Kl

CSIRO Geelong Charity

ANNUAL REPORT 2001 113


f

Individual Donors

John D and Lyla Harris

I and P Rowe

In memory of Ashne Gardiner

Hilary Ash

Rebecca Hetrel

George Scott

Mrs Jan Burge

L and I Barbieri

FL Humphris

Mr and Mrs Seiker

Mr and Mrs F Harris

JS and JM Beaconsfield

Huysman Family

Donne Simpson

Insportz Springvale

Katherine Behrend

Louise M Gourlay

Susan M Sims

Mauis Weymouth

SG Berkoff

Keith Ince

J Smart

The Willaimson Family

K Best

Julie Kantor

Annette Smorgon

K Brady

Michael and Silvia Kantor

Nick Stratford

In memory of Barnie Bitcon

RA Bray

Elizabeth Kennedy

Grant Stephenson

Krystyna and Peter Komocka

David and Karina Calvert-Jones

Dorothy Kimberley

RL Stock

John and Janet Calvert-Jones

PJ and JC Lethlean

ML Thompson

In memory of Shaun Martin

Carolyn Cameron

JK Little

Robert J Thompson

Valerie Walsh

JW and FC Capes

Dame Patricia McKinnon

RN Walford

RM Charlton

Robert Macdonald

Dorothy Wright

Lisa Clemenger

Abinendra Maharaj

D Xenos

YAFFA Ball Support in Kind Beaurepaire Tyres

P Cook

Rob and Jane Malone

Grace L Cuming

Mangan Family

Estates

Bohn Savi Design

E Cunningham

Maurice Hall

Estate of AT Robertson

Calibre

Rosanne Cunningham

Mayfield

Estate of E H Flack

Carlton Football Club

Allan and Lorraine Curtis

LR and RW Mills

Estate of EC Cunningham

Anthony and Marina Darling

DJ Moonamalle

Estate of NE Creaton

Asuman Erdogan

Dame Elisabeth Murdoch

Estate of Rita Hazel Andrews

RJ and DK Fraser

Lachlan and Sarah Murdoch

Estate of Walter HR Alexander

Tony Fraser

Robert Newman

Bernard Curry

Neilma Gantner

Ryan and Sharron O'Hare

In memory of Grace Violet

Emily Gilfillan

Sarah O'Hare

Sainsbery

Stuart F Gooley

GA and KJ Phyland

E Hutchieson

Peter J Griffin

Dr Peter Rogers

Mr and Mrs Handbury

Dr Rosenfeldt

f/J i'l " '

C . Jr

■:,]

1.1

ANNUAL REPORT 20 0 1 114


I

i

Clive Peeters

Jacqui Dixon

Crown Towers

Elly Edwards

DJ Matty G

Lizzie Gibson

Endota Retreat Spa

Jo Gilbert

GUS

Chloe Harrison

Hawthorn Football Club

Victoria Knox

Horizon Sailmakers

Michelle O'Neil

IMG

Dominic Ralton

Kevin Read

Katrina Read

Lisa Hensley

Michael Seeley

Melbourne Diving Services

Bek Wendt

RG Floors

"h

h I > h

h

■

Riedel Imports

M17 - Shelley Beach Classic

RMC

Committee

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St Kilda Football Club

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YAFFA Ball Committee

T

Carrie Beetham

T

Steve Beetham

MCRI Annual Report Editors

Varlli Beetham Claire Cattanach Elli Cattanach Fiona Clancy

Narelle Curtis .

LX

Deborah Bugiera Design Smart Creative Print PMP Print

ANNUAL

REPORT

2 001

115


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Ss Murdoch Childrens Research Institute Royal Children's Hospital Flemington Road Parkville Victoria 3052 Australia Phone: 61 3 8341 6200 Fax: 61 3 9348 1391 murdoch.rch.unimelb.edu.au

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2001 MCRI Annual Report by Murdoch Children's Research Institute - Issuu