Partnering with MCRI

Discoveries that transform child health Partnering with Murdoch Children’s Research Institute

Murdoch Children’s Research Institute is dedicated to finding innovative ways to treat and prevent conditions affecting children’s health.

Because children experience disease differently to adults, treatments for children are different too. That’s why our research is crucial. At MCRI, we are focused on finding the best way to prevent disease and treat children to give them the healthiest possible start to life.

mcri.edu.au

PUBLICATION CONTENTS

2 Welcome to MCRI

4

7

Translation & Partnership

Research Themes

30 Strategic Initiatives

38

40

Enabling Platform

Scientific Services

42 VCGS

44 Licensing Opportunities Partnering with MCRI

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Welcome to MCRI

Murdoch Children’s Research Institute (MCRI) is Australia’ leading child health research organisation. Established in 1986, MCRI has grown from less than 100 researchers working on genetic conditions into a team of more than 1,900 clinicians, scientists, students and research support staff.

MCRI research improves the lives of millions of kids each year. We research health conditions including diabetes, allergies, asthma, premature birth and mental health problems (which are on the rise in our children), and conditions including cancer and genetic disorders that remain unsolved. We study the health of communities to understand factors that influence child health at a population level and research common infections and immune conditions locally and globally.

Our work goes beyond research.

We are one of the only research institutes in Australia to offer genetic testing to find answers for families of children with previously undiagnosed conditions, using the latest genetic sequencing technology.

We also conduct national newborn screening and allow children to access personalised treatments for conditions like cancer.

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Translation & Partnership

MCRI’s approach to turning research into reality involves not only uncovering the scientific breakthroughs, but also then finding appropriate funding sources and partners, and identifying the additional expertise required to get these outcomes into the hands of as many people as possible. To help translate its research findings, MCRI has a dedicated Business Development and Legal Office (BDLO) with an in-house legal team and patent attorney. Our experienced team of business development managers oversee teams specialising in medtech and biotech, diagnostics and digital health. We assist researchers to translate their discoveries into outcomes that have a beneficial impact to society.

Services

MCRI is uniquely positioned to translate research findings into tangible health outcomes. Through its partnership with Curve Tomorrow - an award-winning Victorian digital health and technology company – the BDLO has successfully commercialised MCRI research across tens of therapeutic areas including food allergy (ProTA Therapeutics Pty Ltd.), concussion (HeadCheck), genetic dysmorphology (POSSUMWeb), e-learning platforms in sleep, reading and child social skills evaluation (PEERS) and has a strong pipeline at various stages of development and validation.

Phoebe Macleod Head of Legal & Licensing Digital Health phoebe.macleod@mcri.edu.au

The Business Development team can assist you in various ways, including: • Gaining access to our research and expertise • Finding new revenue streams through joint ventures or licensing opportunities • Developing more innovative products • Entering a niche-market or selling a new product or service Contact Information For all enquiries related to partnering with MCRI contact: Business Development & Legal Office Murdoch Children’s Research Institute

Dr Shari Lofthouse Senior Business Development Manager​​ Biotech & Medtech shari.lofthouse@mcri.edu.au

TRANSLATION & PARTNERSHIP

“ Our focus at the Institute is achieving excellence in our output and making sure we’re one of the best in the world at what we do, but we know we can’t do it all by ourselves.”

James Dromey, COO Partnering with MCRI

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Who we are

Prof Kathryn North AM Director

Prof Melissa Little

Prof Andrew Sinclair

Theme Director Cell Biology

Deputy Director

Prof Vicki Anderson Theme Director Clinical Sciences

Prof John Christodoulou Theme Director Genetics

Prof Andrew Steer Theme Director Infection and Immunity

Prof Katie Allen Theme Director Population Health

RESEARCH THEMES

Research Themes & Core Groups

Cell Biology

Clinical Sciences

Genetics

STRATEGIC INITIATIVES

RESEARCH THEMES

Our research is structured around five themes and a Data Science unit, bringing together large teams of researchers working on related areas to stimulate scientific collaboration and find answers to child health problems. We also collaborate with researchers nationally and internationally to make an even greater impact on the health of children around the world.

ENABLING PLATFORMS

GENOMICS

Melbourne Children’s Trials

GLOBAL HEALTH

Infection & Immunity

HEALTH SERVICES RESEARCH

Digital Technologies

Population Health

LIFECOURSE /GEN V

Developmental Imaging

Data Science

STEM CELL MEDICINE

Policy & Translation

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Cell Biology The Cell Biology theme seeks to understand how cells work and how disease processes alter those functions. This is crucial to making discoveries that help children with developmental disorders, cancer and congenital diseases. Our team of scientists also investigates the molecular mechanisms that underlie embryonic development and tissue regeneration.

Bioinformatics Group Leader Dr Alicia Oshlack

Blood Development Group Leader Prof. Andrew Elefanty

Cancer Group Leader A/Prof. Paul Ekert

Childhood Arthritis Group Leader Dr Jane Munro

Diabetes Group Leader Prof. Fergus Cameron

Epigenetics Group Leader Prof. Richard Saffery, Deputy Director, Gen V

The Bioinformatics research group focuses on statistical bioinformatics and computational biology. The team works on genetic analysis methods for high-throughput sequencing and microarrays and is involved in many collaborative projects. The research focuses on analysis RNA sequence data and epigenetics to detect disease causing variants in the human genome.

The Blood Development laboratory uses human pluripotent stem cells to understand human development and to create models to study human disease. The team has a special interest in the development of blood cells, endothelium and diseases of the blood system. These areas of research are important because our ability to treat many diseases such as leukaemia and thalassemia will be enhanced by increasing knowledge of how they develop.

The Cancer group studies the molecular basis of childhood cancer and how understanding this can be translated into improved diagnostics and treatments. The laboratory has a long-standing interest in the way cytokines signal in blood cells and how such signals are altered in cancer. The group also has an evolving interest in the genomic changes that occur in cancer cells.

They are investigating new ways to identify these changes, including using new sequence techniques to identify balanced translocations.

The Childhood Arthritis group aims to better understand how nature (genes) and nurture (environment) come together to determine a person’s risk of developing disease. The group focuses on childhood immune disorders, primarily juvenile idiopathic arthritis (JIA).

The Diabetes group works closely with The Royal Children’s Hospital (RCH) diabetes clinics. The research group has an active diabetes research program which aims to address the day-to-day needs of the clinic’s patients and the broader community of children with diabetes. In particular, the group’s research efforts over the last five years have focused on the impact of diabetes on the developing brain, mental health and quality of life. The group has also been actively involved in clinical outcome, epidemiologic and prediabetes intervention studies.

The Epigenetics group uses state-of-the-art multidisciplinary approaches, encompassing genetic, environmental and epigenetic analyses, to understand childhood development and complex disease.

Cell Biology

Clinical Sciences

Genetics

Facial Sciences Group Leader Prof. Tony Penington

Heart Regeneration Group Leader A/Prof. Enzo Porrello

Immune Development Group Leader Prof. Ed Stanley

Musculoskeletal Group Leaders Prof. John Bateman A/Prof. Shireen Lamande Prof. Ravi Savarirayan

Infection & Immunity

Population Health

Data Science

RESEARCH THEMES

The Vascular Biology unit works closely with the Department of Plastic and Maxillofacial Surgery at The Royal Children’s Hospital. The focus of the vascular biology laboratory is on vascular anomalies - localised collections of abnormally formed blood and/or lymphatic vessels which can affect any part of the body.

The Heart Regeneration group studies the molecular and cellular mechanisms that govern heart development and regeneration. The focus of the group is on the development of novel regenerative therapies for congenital and acquired forms of heart disease based on a deep understanding of developmental biology. The laboratory employs a range of cutting edge technologies including patient-matched stem cells, genome editing, genomic sequencing and animal models to identify new drug targets for heart regeneration.

The Immune Development group uses human pluripotent stem cells to understand human development and to create models to study human disease. The group has a special interest in diseases of the blood, endocrine and immune systems.

The Musculoskeletal group works to identify the genetic causes of musculoskeletal disease, to understand how the responsible genes participate in musculoskeletal development and homeostasis, and to use this knowledge to improve human health. There are two main areas of research: skeletal biology and disease; and muscular dystrophy.

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“ The fact that we can make kidney tissue from human stem cells and have this develop into mature kidney tissue after transplantation is a very promising step towards developing this further for treatment,�

Prof. Melissa Little, Theme Director

Cell Biology

Clinical Sciences

Neural Crest Group Leader Dr Don Newgreen

Rheumatology Group Leader Prof. Amanda Fosang

Kidney Regeneration Group Leader Prof. Melissa Little, Theme Director

Genetics

Infection & Immunity

Population Health

Data Science

RESEARCH THEMES

The Neural Crest group initiated the experimental study of cell movement in development, focusing on a major embryonic organ system called the neural crest. The team also pioneered bio-mathematical simulations to understand this process. The neural crest produces the autonomic and sensory nervous systems, endocrine organs and also much of the face, neck and outflow vessels of the heart.

The rheumatology research group studies the molecular events that lead to cartilage, bone and joint destruction in arthritis, focusing primarily on molecules that define cartilage structure, and the enzymes that destroy them. The group focuses on defining anabolic and catabolic pathways in juvenile arthritis and osteoarthritis (the most common form of arthritis).

The Kidney Regeneration group investigates the genes required for normal kidney development and what happens as a result of genetic or environmental damage during development. This knowledge is used to try to recreate kidney stem cells. The group has developed methods for generating mini-kidneys from human stem cells that represent models of the human organ, and hopes to use these mini-kidneys to screen drugs for kidney toxicity, as models with which to understand kidney disease, to generate cells for the treatment of kidney disease and eventually to bioengineer replacement organs.

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Clinical Sciences Researchers in the Clinical Sciences theme are involved in the care of babies, children and adolescents with serious acute and chronic illness, with the ultimate aim of saving lives and improving the long-term outcomes of our most vulnerable. Ultimately we aim for a future in which children are free from serious acute and chronic illnesses. For those who do experience disease or illness, research in the Clinical Sciences theme strives to ensure best-practice treatment, diagnosis and care for babies, children and adolescents.

Anaesthetics Group Leader Prof. Andrew Davidson

Brain and Mind Group Leaders Prof. Vicki Anderson, Theme Director Dr Jonathan Payne

Developmental Imaging Group Leader Dr Marc Seal

Emergency Group Leader A/Prof. Franz Babl

Gait Lab & Orthopaedics Group Leaders Prof. Kerr Graham

Heart Group Leader Dr Michael Cheung

The Anaesthesia and Pain Management research group focuses on improving the quality of care received by children before, during and after their operations. This involves identifying and measuring how patients respond to anaesthesia. Research results can influence change in anaesthesia practice.

The team is committed to providing a structured program of teaching and mentoring to ensure future research in this area.

The Brain and Mind group aims to improve the lives of children with brain injury by contributing to the development of knowledge in the field at the level of theory, practice and implementation.

The Developmental Imaging research group aims to improve our knowledge of childhood development and health through the use of sophisticated medical imaging acquisition and analysis techniques, and ultimately to translate their findings and innovations into improved diagnostic and therapeutic care for children and adolescents.

The Emergency research group has a very strong commitment to clinical research across a broad range of topics. The group is a member of the PREDICT (Paediatric Research in Emergency Departments International Collaborative) emergency research network. This network provides a research platform for achieving multicentre acute care research in Australia and New Zealand.

The gait lab and orthopaedics research group aims to find the best treatments to help children with walking disabilities. The group has two broad areas of research: evaluating the effect of orthopaedics treatment on gait; and developing models of the human body to support the use of gait analysis.

The Heart research group studies many aspects related to cardiovascular health in children. The team has world-leading expertise in the assessment of cardiovascular function, acquired both through animal and cell studies. The close working relationship between clinicians and scientists fosters rapid clinical translation, in addition to identifying areas of clinical interest that would benefit from improved understanding of the mechanisms at play.

Cell Biology

Clinical Sciences

Haematology Group Leaders A/Prof. Vera Ignjatovic Prof Paul Monagle

Hormone Research Group Leader Prof. George Werther

Neonatal Research Group Leaders Dr David Tingay A/Prof. Rod Hunt

Neurodisability and Rehabilitation Group Leader Prof. David Amor

Neuroscience Group Leader A/Prof. Rick Leventer

Paediatric Intensive Care Group Leader A/Prof. Warwick Butt

Genetics

Infection & Immunity

Population Health

Data Science

RESEARCH THEMES

The Haematology group explores developmental haemostasis. There are ageassociated alterations in levels of coagulation proteins and their function.

The group is the only team in Australia and one of three teams in the world performing this type of research. They established the only age-specific reference ranges for coagulation proteins in an Australian population. These have been adopted in patient care nationally and internationally.

The mission of the Centre of Hormone Research is to understand the causes, and seek more effective prevention and treatment, of diabetes, obesity and disorders that affect growth, bone health, and sexual development in children.

The team’s vision is to provide affected children and their families with a future free of physical, social and emotional handicap.

The Neonatal research group comprises a team of experienced neonatologists, nurses, scientists and engineers whose aim is to improve the treatments and outcomes of ill newborn. The research team includes world leaders in the fields of advanced respiratory therapies, resuscitation, hypoxic ischaemic encephalopathy and congenital problems requiring surgery in early life. Researchers use diverse research techniques, many pioneered at MCRI and not available anywhere else.

The Developmental Disability and Rehabilitation research group is focused on helping children with disabilities and their families; first by improving understanding of the causes of childhood disabilities and second by determining the best interventions. Whilst the group has had a strong research focus in the field of cerebral palsy, the scope has now broadened to include the autism spectrum disorders, acquired brain injury, chronic fatigue syndrome and other rarer conditions.

The Neuroscience research group comprises researchers dedicated to the study of the central and peripheral nervous systems. The team is a clinically oriented research group focused on translational research that is aimed at improving the lives of children with a broad spectrum of neurological disorders.

The Paediatric Intensive Care team has a range of studies underway locally, nationally and internationally to improve the outcomes for children with lifethreatening illnesses. Main research areas include cardiac disease, acquired brain injury, lung disease, sepsis, renal replacement therapy and intensive care outcomes.

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Clinical Sciences

Speech & Language Group Leader Prof. Angela Morgan

Victorian Infant Brain Studies (VIBeS) Group Leader Prof. Peter Anderson

The Speech and Language group examines genetic, neural and socialenvironmental predictors of speech, language and literacy development.

The team’s overarching aim is to develop intervention strategies based on research evidence so children with speech and language difficulties reach their full potential. The group conducts speech and language phenotyping in both rare inherited or de novo genetic conditions as well as the general population.

VIBeS is a large multi-disciplinary group with experts in the fields of neonatology and general paediatrics, neuroscience, neuropsychology and developmental psychology, physiotherapy, nursing, occupational therapy and speech pathology. The broad objective of the VIBeS group is to improve the long-term quality of life for children born preterm. The group conducts some of the world’s largest longitudinal observational and neuroimaging cohort studies with preterm children. The group is divided into five specialist teams including neuroimaging, motor development, neurology, neuropsychology and mental health and parenting.

Cell Biology

Clinical Sciences

Genetics

Infection & Immunity

Population Health

Data Science

RESEARCH THEMES

“ We want to be ahead of the pack when it comes to paediatric trials.

We don’t want to just catch up.”

Prof. Andrew Davidson

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Genetics The Genetics theme is dedicated to investigating disease mechanisms and clinical conditions that are primarily caused by pathological alterations in genes and chromosomes, with emphasis on rare genetic diseases. The team’s globally competitive research is built on expertise in a range of areas and a mix of laboratory, clinical and public health research, epidemiology and genetic screening.

Biomedical Ethics Group Leader Prof. Julian Savulescu

Brain and Mitochondrial Group Leaders Prof. John Christodoulou, Theme Director Prof. David Thorburn

Diagnosis and Development Group Leader A Prof. David Godler

Genomics Health Alliances

The Biomedical Ethics research group conducts empirical and philosophical research into the ethical and societal issues raised by medical technologies particularly focusing on children - including genetic, assisted reproductive and surgical technologies.

The Neurodevelopmental Genomics research group is dedicated to revealing the function of unknown genes critical to the healthy development of brain and nerves. Using cutting-edge research, the team is assessing alterations that occur in the genes linked to Rett syndrome. The group also focuses on developing early diagnosis and intervention tests for the rarer genetic diseases.

The emphasis of the cytomolecular diagnostic group is on the acquisition of new knowledge which can be rapidly translated into clinical practice to improve patient management. Using the clinical resources of the VCGS, Cytogenetics, Molecular Genetics and Newborn Screening laboratories, the group focuses on the neurogenetics and epigenetics of disorders related to the FMR1 gene.

The Genomics Health Alliances group has strong multidisciplinary collaborations with other groups within MCRI, as well as research groups within Victoria, nationally and internationally.

Group Leader Prof. John Christodoulou, Theme Director

Genomics in Society Group Leader Dr Clara Gaff

Metabolic Group Leader Prof. Avihu Boneh

The Genetics Education and Health research team explores and evaluates the provision and impact of genomic technologies and genetic services, as well as contributing to the development of educational programs.

The Metabolic Research group aims to enhance the understanding of the natural history of inherited metabolic disorders and improve diagnosis and treatment of these diseases. The group focuses on patient-oriented research projects, including improved diagnostic methodology, better understanding of the natural history of metabolic diseases and detailed dietary analysis of protein and energy intakes of patients with these disorders to assess the effect on individuals’ growth and development.

Cell Biology

Clinical Sciences

Neuromuscular Group Leaders Prof. Kathryn North Director, MCRI

Reproductive Development Group Leaders Prof. Andrew Sinclair Deputy Director, MCRI

Reproductive Epidemiology Group Leader Prof. Jane Halliday

Translational Bioinformatics Group Leader Dr Cas Simons

Genetics

Infection & Immunity

Population Health

Data Science

RESEARCH THEMES

Neuromuscular Research Group Leader and Institute Director, Professor Kathryn North, was the first to identify the common genetic variation in alpha-actinin-3 (R577X) that influences muscle function and performance in elite athletes and the general population (the ‘gene for speed’). The team’s research into the ACTN3 gene has greatly improved understanding of normal skeletal muscle biology, as well as highlighting major roles for health and fitness across the human lifespan.

The Molecular Development group aims to pool its expertise in human genetics, molecular and developmental biology, to find genes important for sex development, identify gene defects that cause disorders of sexual development (DSDs) and study their function. The team works with clinicians to apply these findings to the accurate diagnosis and medical care of DSD in children.

The Public Health Genetics group researches the monitoring and evaluation of current and emerging genetic technologies, particularly related to prenatal diagnosis and population screening for genetic disorders. It also studies the use and communication of genetic information in families. A third area of investigation is the integration of genetic, epigenetic, environmental and socio-demographic factors in prenatal exposures such as assisted reproductive technologies (ART) or alcohol, and the impact this has on the health and wellbeing of infants, children and young adults.

The Translational Bioinformatics research group is focused on understanding the molecular basis of rare and undiagnosed genetic disorders. Specifically, the team focuses on disorders affecting the white matter of the brain and genetic renal disorders.

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Bruce Lefroy Centre The Bruce Lefroy Centre for Genetic Health Research is a research group within the MCRI, made possible by the generosity of the Lefroy family and friends.

The centre benefits from the synergy between MCRI and Victorian Clinical Genetics Services (VCGS), the major provider of clinical genetics services to Victoria and Tasmania.

The mission of the Bruce Lefroy Centre is to create knowledge that will benefit individuals, families and

Genetic Health Group Leader Prof. Martin Delatycki

Neurogenetic Research Group Leader A/Prof. Paul Lockhart

communities affected by genetic conditions. The centre has a focus on research into genetic diseases that affect the nervous system as well as research into genetic testing, ethics in clinical genetics and study of genetic syndromes.

The Genetic Health Research team studies genetic diseases of the nervous system including Friedreich ataxia, Parkinson disease, autism, brain malformations, dystonia and Huntington disease. In addition it conducts research into genetic screening. This includes screening for reproductive risks such as cystic fibrosis, Tay Sachs disease and thalassaemia as well as screening for conditions that can affect the health of the screened individual including haemochromatosis.

The Neurogenetic research group was established in 2004 to develop laboratory-based molecular neuroscience research within MCRI and enhance the established clinical and public health research activities of the Bruce Lefroy Centre. A major focus of the group’s research is gene discovery and functional characterisation of proteins contributing to neurodevelopmental and neurogenetic disorders including autism, brain malformations, Parkinson’s disease and ataxia.

Cell Biology

Clinical Sciences

Genetics

Infection & Immunity

Population Health

Data Science

RESEARCH THEMES

“ The Bruce Lefroy Centre does genetic research that aims to identify the cause of genetic conditions, how genetic conditions affect people and to develop and test therapies from this knowledge which will give families answers and options.�

Prof. Martin Delatycki Partnering with MCRI

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Infection and Immunity Researchers in the Infection and Immunity theme work to address important infectious diseases and immune and allergy problems that impact children both locally and globally. One major focus of the theme is vaccine development, testing, safety and quality assurance using globally competitive vaccine trials expertise and international networks.

Allergy Immunology Group Leader Prof. Mimi Tang

The Allergy and Immunity group focuses on allergic diseases which are the most common chronic disorders affecting children in Westernised countries, and pneumococcal disease which is the most common cause of death in children under five years globally.

Publications include:

Brain Infection Group Leader Prof. Cheryl Jones

Clinical Paediatrics Group Leaders Dr Thomas Connell Dr Penelope Bryant

Enteric Diseases Group Leader Prof. Julie Bines

Infection Modelling Group Leader Prof. Jodie McVernon

Cobbin JCA, Britton PN, Burrell R, et al. 2018. A complex mosaic of enteroviruses shapes community-acquired hand, foot and mouth disease transmission and evolution within a single hospital. Virus evolution 4 (2): vey020.

Britton PN, Blyth CC, Macartney K, et al. 2017. The Spectrum and Burden of Influenza-Associated Neurological Disease in Children: Combined Encephalitis and Influenza Sentinel Site Surveillance from Australia 2013-2015. Clinical infectious diseases: an official publication of the Infectious Diseases Society of America.

The Clinical Paediatrics group seeks to further the diagnosis, investigation and treatment of children with common childhood illnesses who present to hospital. The team’s strength lies in its wide range of research interests and the capacity to engage and collaborate with a large number of clinicians on campus to translate findings into practice for the benefit of patients.

The Enteric Virus group researches diseases of the gastrointestinal tract, investigating microbial pathogens and their role in diseases important in children, including acute gastroenteritis and Crohn’s disease. The group’s research aims to improve the knowledge of the role of enteric infections, through molecular epidemiology, genome sequencing and immunology.

The Modelling and Simulation unit considers the complex biological and social systems underpinning the study of infectious diseases, engaging national and international collaborators in basic sciences, psychology, sociology, ethics and urban planning. The group’s models provide valuable frameworks to describe epidemic characteristics, assess likely benefits of public health interventions and estimate risks associated with emerging diseases.

Cell Biology

Clinical Sciences

Genetics

Infectious Diseases Group Leaders Prof. Nigel Curtis Prof. Roy Robins-Browne

Inflammatory Origins – Susceptibility to Paediatric Infection (SPIn) Group Leader Dr David Burgner

International Child Health Group Leader Prof. Stephen Graham

Intestinal Failure & Clinical Nutrition

Infection & Immunity

Population Health

Data Science

RESEARCH THEMES

The research of the Infectious Diseases group focuses on improving the diagnosis, treatment and prevention of infectious diseases in children. It comprises both clinical and laboratory-based research studies. The group has a particular interest in infections that are important to child health worldwide such as tuberculosis and other respiratory infections, diarrhoeal illnesses and neonatal sepsis.

The SPIn group investigates why some babies and children get severe infections and the possible consequences of these infections. The group is particularly interested in how childhood infection and inflammation affect the heart and blood vessels. The team’s focus is on children born preterm, those whose pregnancies have been complicated by inflammation and infection, and those who have infectious and inflammatory diseases in childhood, as well as otherwise healthy children. SPin is one of the few groups actively working in the area of Kawasaki disease.

The International Child Health (ICH) group is working to increase recognition of, and improve care for, treatable and preventable diseases in newborns, children and adolescents. To achieve this the team has developed global, regional and national plans with the WHO, DFAT and other partners. The group supports health care providers and researchers in low and middleincome countries, particularly in the Asia-Pacific region, in capacity building through research collaboration and technical assistance.

The Clinical Nutrition program is a national referral centre for children with complex nutritional problems and intestinal failure and is linked with the Australian Paediatric Intestinal Transplantation Program.

Group Leader Prof. Julie Bines

Molecular Microbiology Group Leader Prof. Suzanne Garland

The Department of Microbiology and Infectious Diseases conducts clinically based research, as well as cutting edge molecular diagnostics for detection of infections as they relate to obstetrics, paediatrics, gynaecology and neonatology.

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Infection and Immunity

Mucosal Immunology Group Leaders Prof. Phil Sutton

New Vaccines Group Leader Prof. Kim Mulholland

One focus of the Mucosal Immunology group’s research is to understand how the host mucosal immune system regulates inflammation caused by pathogenic bacteria. Such inflammation is central to the development of stomach ulcers, as well as stomach and colorectal cancer. Another important area of the group’s research is vaccine development, for example against important pathogens including Helicobacter pylori, which causes stomach cancer, and Neisseria meningitidis, a major cause of meningitis in children.

The Pneumococcal Research group works across three distinct but closelyrelated sub-groups to develop, evaluate and enhance vaccination strategies worldwide: • Clinical and Epidemiology • Microbiology • Immunology

Respiratory Group Leader Prof. Sarath Ranganathan

SAEFVIC Deputy Group Leader Dr Nigel Crawford

Surgery Group Leaders Dr Bridget Southwell Prof. John Hutson

The Respiratory group has undertaken several areas of research that relate to common chronic childhood respiratory conditions such as asthma, cystic fibrosis, long-term effects of prematurity, allergy and tuberculosis.

SAEFVIC (Surveillance of Adverse Events Following Vaccination In the Community) is a public health partnership initiative of the Victorian Immunisation Program funded by the Department of Health, Victoria.

A national leader in vaccine safety, SAEFVIC is a vaccine safety service and clinical immunisation research team, focusing on vaccine safety and surveillance.

The team works mostly with surgeons who operate on the abdominal organs – the urinary tract, reproductive organs and gastrointestinal tract.

It investigates defects in these organs and ways to improve treatment.

The major areas of study include urogenital defects and gastrointestinal defects. The group’s research also involves reviewing surgical outcomes in the hospital.

Cell Biology

Clinical Sciences

Genetics

Tropical Diseases Group Leader Prof. Andrew Steer, Theme Director

Infection & Immunity

Population Health

RESEARCH THEMES

Data Science

The Strep A research group is a multi-disciplinary research team with a focus on understanding and preventing infectious diseases that affect children and their families in disadvantaged communities. The group conducts research across three main areas: • Prevention of Strep A infection, including vaccine development • Control of scabies and other neglected tropical diseases • Prevention and control of rheumatic heart disease

Group Leaders Dr Trevelyan Menheniott

The Gastrointestinal Research in Inflammation and Pathology (GRIP) group investigates how chronic gut inflammation leads to disease and how targeted intervention in inflammatory signalling pathways can ameliorate pathological outcomes.

Vaccine and Immunisation Research Group (VIRGo)

VIRGo has the largest and longest standing child and adolescent vaccine population research and clinical trials program in Australia. Vaccine and immunisation research is conducted in three complementary programs: clinical trials, epidemiology and social research in vaccine hesitancy.

Tumour Immunology

Group Leader Prof. Terry Nolan

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Population Health Population Health is the study of the health of communities and populations, including the determinants, distribution and management of health at the population level. Our diverse team of researchers aims to improve understanding of the complex interplay of social, environmental, and biological factors - including genetic and epigenetic factors which control gene activity - that influence child and adolescent health.

We strive to translate this knowledge into effective prevention, early intervention and treatment strategies appropriate to diverse populations, particularly those affected by social disparities.

Intergenerational Health Group Leader Prof. Stephanie Brown

Molecular Epidemiology Group Leader Prof. Anne-Louise Ponsonby

Population Allergy Group Leader Prof. Katie Allen, Theme Director

The Intergenerational Health research program focuses on what can be done in pregnancy and the early postnatal period to improve maternal, newborn and child health outcomes. The group’s vision is health, wellbeing and equity for all mothers, children and families. In particular, the program focuses on improving the health and wellbeing of Aboriginal families, families of refugee background and women and children experiencing family violence.

The Molecular Epidemiology group aims to improve knowledge in the prevention of diseases, particularly immune disorders. This group aims to better understand the factors driving the increased risk of child immune disorders and other diseases. The goal is to generate further knowledge that will hopefully lead into direct policy and prevention activity to decrease the risk of children developing type 1 diabetes mellitus, multiple sclerosis or child allergies.

The Gastro & Food Allergy group is one of the leading food allergy research centres in Australia. The group investigates the natural history of allergic disorders, with a focus on food allergy. Specifically, the group’s research looks at primary, secondary and tertiary prevention of food allergy.

Cell Biology

Clinical Sciences

Genetics

Infection & Immunity

Population Health

RESEARCH THEMES

Data Science

“ My view is that we should empower people to be able to eat what they need to eat, that’s safe for them.”

Prof. Katie Allen

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Population Health

The Centre for Adolescent Health The Centre for Adolescent Health (CAH) aims to improve young people’s life chances because adolescence is as much about new opportunities as new risks. The CAH is led by Professors Susan Sawyer and George Patton, and is a collaboration between our campus partners, The Royal Children’s Hospital and The University of Melbourne.

Adolescent Health Group Leader Prof. George Patton Prof. Susan Sawyer

Justice Health Group Leader Prof. Stuart Kinner

As a World Health Organisation (WHO) Collaborating Centre in Adolescent Health, the CAH is unique in focusing on adolescence as a critical life stage.

This includes the transition from childhood into adolescence and the transition beyond adolescence into adult life.

The Adolescent Health group has led the way locally, nationally and globally in studies of the health of young people. The team was the first to document patterns of adolescent health across the globe. The group has undertaken internationally unique studies of the factors influencing health as children pass through puberty and how young people move through the transitions of leaving school, getting a job, leaving home, getting married and having a family of their own. These studies have moved on to the next generation, where they are considering the influence of the health and well being of parents prior to pregnancy on the healthy start to life for newborns.

Young people and adults who come into contact with the criminal justice system are among society’s most vulnerable. They are distinguished by a high prevalence of complex, co-occurring health problems, typically set against a backdrop of entrenched disadvantage. The Justice Health Group seeks to generate world-class evidence regarding the health and health service experiences of justice-involved young people, and to advocate for evidence-informed policy to improve their health outcomes. The group works closely with health and justice agencies in Australia, with leading researchers internationally and with key international agencies including WHO and UNICEF.

Cell Biology

Clinical Sciences

Genetics

Infection & Immunity

Population Health

Data Science

RESEARCH THEMES

The Centre for Community Child Health The Centre for Community Child Health is committed to achieving the best possible health, development and wellbeing outcomes for children, families and communities through an agenda that focuses on promotion and prevention. The centre strives for evidence-based policy, evidence-based service delivery and professional practice, and equity of health, development and wellbeing outcomes among Australian children.

Health Services Group Leader Prof. Harriet Hiscock

Policy and Equity Group Leader Prof. Sharon Goldfeld Prof. Frank Oberklaid Sue West

Prevention Innovation Group Leader Prof. Melissa Wake

In addition to its contribution to the Population Health theme within MCRI, the Centre for Community Child Health is a department of RCH and an academic centre of The University of Melbourne. The centre’s links to these world-class institutions provide access to some of the world’s top minds in child health and development research and practice.

The Health Services group supports the development and use of the best available evidence to increase the quality, accessibility and value of healthcare that children receive. It aims to reduce disparities and to improve health outcomes for children across Victoria and Australia.

The Policy and Equity research group undertakes, synthesises and translates research so that it can inform policy, service delivery, professional practice and parenting. The team conducts discovery and applied research, undertakes consultancies for government and non-government agencies, and provides evidence-informed advice to governments and community agencies.

The group comprises the health equity unit and the policy and service development unit (PSDU).

The Prevention Innovation group aims to seek faster solutions to today’s ‘wicked’ childhood problems, such as obesity, language and learning problems and mental health issues. The group’s vision is that the pace, scope and versatility of children’s population research steps up to truly understand how healthy development happens, how it can be derailed and what societies can do to keep it on track.

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Data Science MCRI has long been recognised for its strength in biostatistics, which has underpinned many research successes leading to substantial improvements in child health.

Modern technology enables us to measure the natural world to finer and finer levels – whether thinking of a whole child or at microscopic and molecular levels. In this context the Institute’s high levels of expertise in the analysis and interpretation of data of all kinds help to keep it at the cutting-edge of science.

Our data science researchers are

Clinical Epidemiology & Biostatistics (CEBU) Group Leader Prof. John Carlin

active at the forefront of methods development, attracting the next generation of data scientists as PhD students and postdoctoral researchers. Our approach means that our collaborators in clinical trials, community-based epidemiology, population genetics and genomics are assured of top-quality engagement.

The Clinical Epidemiology and Biostatistics Unit (CEBU) specialises in biostatistics, epidemiological methods and data management. The group collaborates with a wide range of clinical and biomedical investigators and also conducts methodological research to develop and strengthen the biostatistical methods underpinning modern health research. The unit is widely regarded as a leading example of how internationally-respected biostatistical expertise can be developed and integrated into major health research programs.

Cell Biology

Clinical Sciences

Genetics

Infection & Immunity

Population Health

Data Science

RESEARCH THEMES

“ The work that my team and I do in biostatistics has “trickle-down” effects that directly impact thousands of Royal Children’s Hospital patients each year.”

Prof. John Carlin Partnering with MCRI

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Priority Areas

As well as our research themes and groups, MCRI is focusing on specific priority areas aimed at leveraging the Institute’s multidisciplinary research excellence.

Ultimately the goal is better health for children across Australia and the globe; through cutting-edge clinical and community trials, the integration of genomics into standard healthcare and using valuable data from large population studies both here and abroad to better understand the health of children today.

Each priority area uses collaborative research programs which connect research with clinical care and treatment, including our unique partnerships with RCH and The University of Melbourne.

Cell Biology

GENOMICS

ENABLING PLATFORMS

Clinical Sciences

Genetics

Infection & Immunity

Population Health

Data Science

Diagram

STRATEGIC INITIATIVES

RESEARCH THEMES

STRATEGIC INITIATIVES

Melbourne Children’s Trials

GLOBAL HEALTH

HEALTH SERVICES RESEARCH

Digital Technologies

LIFECOURSE /GEN V

Developmental Imaging

STEM CELL MEDICINE

Policy & Translation

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Genomics and Personalised Medicine MCRI has a rare combination of expertise and experience, enabling genomic medicine to be implemented in a clinical setting.

MCRI Genomic Medicine will impact the diagnosis and treatment of a wide range of childhood genetic disorders including those affecting sex development, muscle and skeletal function, mitochondrial disorders, heart defects, brain function and, more recently, developmental disorders including epilepsy, autism and neuronal migration defects. It will change the emphasis of clinical practice from reactive treatment of problems towards prevention and early intervention to ensure the best patient outcomes.

Melbourne Genomics Health Alliance MCRI is a founding member of the Melbourne Genomics Health Alliance, which brings together genomics expertise and resources from across Melbourne.

The alliance links the clinical, research and teaching strengths of its seven founding members to integrate genomic medicine into everyday healthcare for the betterment of patients. The Alliance is clinically driven, with all decision making guided by clinical principles and with patient preference and welfare front-of-mind. A key motivation for the creation of the Alliance is the ethical sharing of clinical genomic data from multiple accredited testing laboratories.

Australian Genomics Health Alliance Australian Genomics is a national, collaborative, genomics research program led by MCRI’s Director, Professor Kathryn North.

In 2018 Australian Genomics counts 80 organisations and 400 investigators and collaborators within its research program. This includes the clinical and diagnostic genetics services across the country, along with major research and academic institutions. Australian Genomics works with the state-based genomics initiatives, engages closely with state and federal governments and plays a significant role in driving genomic health implementation and policy internationally.

Global Alliance for Genomics and Health MCRI is also a member of an international consortium, Global Alliance for Genomics and Health, involving over 500 leading organisations working in healthcare, research, patient advocacy, life sciences and information technology.

Global Health

STRATEGIC INITIATIVES

The work of the Institute extends outside Australia’s national borders. Together we are committed to understanding global health problems and developing efficient, affordable means of preventing and treating disease.

Our ultimate aim is to reduce the health inequality in our local communities and worldwide. Our global program spans work with families in the northern suburbs of Melbourne and Indigenous communities in outback Australia, to vaccine programs in disadvantaged populations in South East Asia and Africa.

We have a particular focus on using public health interventions and health promotion to combat infectious diseases and prevent morbidity and mortality affecting

populations in developing areas.

MCRI is establishing itself as a global health centre to coordinate, support and implement interdisciplinary research, education and health services that address issues facing the poorest children in the world.

This includes vaccine development, implementation and oversight, global disease epidemiology and social and behavioural interventions.

Researchers collaborate with key scientists and organisations nationally and internationally. By extending our reach beyond our

borders, we are able to share skills, knowledge and resources to make an even greater impact on the health of children not just in Australia, but around the world.

We have formed formal partnerships with leading United States paediatric hospitals - Cincinnati Children’s Hospital and the Children’s Hospital of Philadelphia (CHOP) - to provide evidence-based advice to peak bodies such as the WHO and collaborate with philanthropic organisations such as the Bill and Melinda Gates Foundation.

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Health Services Research Researchers at the Institute work with the goal of translating their research findings to have a meaningful impact on health care and education. The Health Services Research program seeks to ensure high quality interventions and treatments are delivered to the community at a reasonable cost.

We work alongside doctors, nurses, allied health professionals, health managers and administrators and other key decision-makers and influencers to ensure our research can be applied in the health care system.

We are developing predictive models both for clinical groups and for the population, to better identify need, target care and eliminate waste and over- and under-servicing.

Our co-location within RCH together with The University of Melbourne’s Department of Paediatrics offers an ideal environment to drive innovation and identify the most effective ways to organise, manage, finance and deliver high quality care.

LifeCourse

STRATEGIC INITIATIVES

The Melbourne Children’s LifeCourse Initiative is a program of work bringing existing campus-wide cohort data together to enhance our ability to affect change in public health, clinical practice and policy.

There are few centres worldwide with such extensive population and clinical studies designed to address different questions central to early life health and development. These studies provide a unique opportunity to inform new approaches to prevention and treatment across childhood and adolescence.

The vision of LifeCourse is to maximise the value of these studies to inform better outcomes for children and adolescents across the continuum of care. Our aim is for the Melbourne Children’s Campus to lead the national integration of early lifecourse data to create an unparalleled resource for informing practice and policy - a resource that will enhance the capacity of the clinical and medical research community - to inform governments and the healthcare sector about the best timing and targeting of interventions that prevent disease and disorder, enhance treatment of disease and disorder and promote wellbeing.

LSAC Checkpoint ATP ATP Generation 3 HealthNuts SchoolNuts

GenV Generation Victoria (GenV) is a world-first initiative that aims to solve pressing questions for the next generation of Victorians.

GenV’s vision is to create the world’s most exciting children’s health, development and wellbeing project to answer today’s pressing policy and practice questions.

GenV aims to engage researchers, policymakers and practitioners - in Victoria, Australia and internationally – in the quest to find practical, testable and translatable solutions to issues for Victorian children in real time as they emerge. This drives discovery, change and a lasting legacy.

BIS MIS BAIR VITALITY VAHCS

Funding

VIHCS IYDS

nce cie aS t Da

Triple B CATS

Ge Omic nomi s P cs lat & fo rm

VIBeS PETS

tific Service Scien s

Maternal Health

M C B C B io b a n k

AQUA

LifeCourse

CLARITY

VicCHILD Baby Biotics

&

s i ce i c erv no m S h H e a l t h E co H e a lt

s

& i cs , Cu G o s t ve r od n i a n a n ce s hip h

VCPR

Collaboration

Data Linkage Et

CAP

Translation

s

ELVS CHART

Consortia

Gen V Capacity Building

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Stem Cell Medicine MCRI Stem Cell Medicine is a world-class research program focused on the delivery of human stem cell-based products, including patient disease modelling, drug screening cell therapies and bioengineered tissues.

MCRI Stem Cell Medicine has a vision to prepare Australia for the transition from fundamental stem cell research in the lab toward translation outcomes using stem cells, with the delivery of human stem cell-based products and clinical practices.

By consolidating our research talent, fostering collaboration, strategically investing resources and expanding our infrastructure platforms, MCRI is now one of the world’s leading Institutes in pluripotent stem cell research.

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MCRI Stem Cell Medicine Key Programs 1. Drug Screening Using patient-derived stem cells to screen for drug toxicity and drug efficacy 2. Disease Modelling Turning iPSC differentiated stem cells into tissue-specific cell types to understand how mutations result in disease 3. Regenerating Organs Bioengineering replacement organs using cells derived from human iPSC 4. Novel Cell Therapies Developing stem cell therapies to treat patients 5. Ethics & Community Engaging and interacting with the public to responsibly discuss stem cell research 6. Stem Cell Banks Establishing a stem cell bank to match the Australian population in preparation for cellular therapies

STRATEGIC INITIATIVES

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Enabling Platforms

Cell Biology

Clinical Sciences

Genetics

STRATEGIC INITIATIVES

RESEARCH THEMES

MCRI’s research expertise is supported by enabling platforms that promote collaboration and enhance the impact of our research.

ENABLING PLATFORMS

GENOMICS

Melbourne Children’s Trials

GLOBAL HEALTH

Infection & Immunity

HEALTH SERVICES RESEARCH

Digital Technologies

Population Health

LIFECOURSE /GEN V

Developmental Imaging

Data Science

STEM CELL MEDICINE

Policy & Translation

ENABLING PLATFORMS

Melbourne Children’s Trials Centre The Melbourne Children’s Trials Centre (MCTC) is a state-of-the-art one-stop-shop for undertaking trials of new therapies on campus. The MCTC comprises a purposebuilt trials space, the Clinical Epidemiology and Biostatistics Unit (CEBU), the Royal Children’s Hospital Research Ethics and Governance Office and the Clinical Research Development Office (CRDO).

The co-location of these facilities and resources provides access to expertise and training to develop high quality trials designed for maximum impact on healthcare. The MCTC brings new therapies and generates knowledge to better the health of all children.

Digital Technologies Interest in the potential of digital technologies in healthcare has risen significantly over the last decade. Advances in technology together with its increasing use and declining costs have opened up valuable opportunities for its application in healthcare.

Digital health is offering unprecedented opportunities to empower patients and providers and improve healthcare delivery.

MCRI has a well-established innovation hub, with an embedded team of designers, engineers and software developers from Curve Tomorrow; an award-winning Victorian digital health and technology company. The model has created a unique working environment: a technology company embedded within a medical research institute embedded in a major tertiary hospital.

This has fuelled a pipeline of innovation and has helped us bring health and medicine into the digital age.

Developmental Imaging The Developmental Imaging platform was established to facilitate high quality medical imaging research on the Melbourne Children’s Campus. The aim is to improve our knowledge of childhood development and health through the use of sophisticated medical imaging acquisition and analysis techniques, and actively translate findings into improved care for children and adolescents.

Policy & Translation The Policy and Translation platform undertakes, synthesises and translates research so that it can inform policy, service delivery, professional practice and parenting. The team conducts discovery and applied research, undertakes consultancies for governments and nongovernmental agencies, and provides evidence-informed advice to governments and community agencies.

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Facilities and Services MCRI boasts world-class facilities, laboratories and research equipment. Our Scientific Services department provides specific expertise and training in flow cytometry, laboratory support, sequenom platform, shipping of laboratory goods and documents and tissue culture.

Biobanking Facility MCRI’s Biobanking Facility forms part of the Melbourne Children’s Bioresource Centre.

Biobanking Facility supports research involving biospecimens by providing advice and support through study planning, grant application justification and costing, and ethics approval.

Flow Cytometry & Imaging The Flow Cytometry and Imaging Facility provides researchers with high performance instrumentation and comprehensive support for performing flow cytometric analysis, Flourescent Activated Cell Sorting (FACS), confocal and wide-field microscopy.

The facility provides extensive instrument training as well as guidance in experimental setup and design.

SCIENTIFIC SERVICES

Sequenom Platform Facility The Sequenom Platform Facility provides expertise in mass spectrometry and robotics to analyse DNA and RNA at a high-performance level. The platform is housed within a NATA accredited laboratory and is operated according to ISO 15189 requirements. It provides access to instrumentation and technical assistance for performing SNP genotyping and DNA methylation analysis.

Tissue Culture Our tissue culture laboratory provides cell cultures and media for research scientists as well as establishing skin fibroblast or lymphoblast cultures from patients for diagnostic and quality assurance testing.

Stem Cell Core Facilities The MCRI Stem Cell Core operates on a fee-for-service basis to provide researchers with customised iPSC derivation and genome editing based on the latest cutting-edge stem cell technologies. Services are available for both internal and external clients.

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Victorian Clinical Genetics Services Victorian Clinical Genetics Services (VCGS) is a specialist prenatal, childhood and adult genetics service. We are an Australian not-for-profit subsidiary of MCRI and one of the largest contributors driving genetic healthcare, research and policy in the country.

Located at The Royal Children’s Hospital, we provide an integrated genetic consultation, counselling, testing and diagnostic service for children, adults, families, and prospective parents. Our unique service includes the ability to draw on specific expert knowledge from Melbourne Children’s Campus partners RCH and The University of Melbourne, providing individuals and families with accessible and high quality healthcare. We aim to provide and continually improve the clinical care, support, genetic screening and diagnostic testing for children, adults and families, at risk of, or living with a genetic condition.

We aim to do this by investing in new genetic and genomic testing, expanding our clinical and laboratory services, and raising broader community understanding by improving access to information and to the services that we provide.

Contact Us Victorian Clinical Genetics Services Murdoch Children’s Research Institute 4th Floor Royal Children’s Hospital Flemington Road Parkville VIC 3052

+61 3 8341 6212 1300 11 8247

vcgs@vcgs.org.au

VICTORIAN CLINICAL GENETICS SERVICES

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Working with Industry MCRI’s highly experienced Business Development and Legal team has expertise across all aspects of research commercialisation. Our strategic location at the RCH and alliance with the VCGS allows us to translate our discoveries in laboratory, clinical and public health research into real-world outcomes.

Thanks to our close relationship with digital innovation company Curve Tomorrow, we are bringing health and medicine into the digital age.

Together with our global network of partners, we can assist you in taking child health-related discoveries to a whole new level.

Investment and Licensing Opportunities MCRI has approximately 400 projects feeding into its Business Development pipeline, with over 50 products in development across diagnostics, therapeutics, medical devices and digital health: • Biomarkers/Diagnostics • Cardiovascular/Metabolic Disease • CNS/Neurology • Digital Health • Drug Discovery/Research Tools • Haematology • Health Education • Microbiology/Infectious Disease • Musculoskeletal • Nucleic Acid-Based Therapies • Regenerative Medicine and Stem Cells • Therapeutic • Vaccines

LICENSING OPPORTUNITIES

For more information about MCRI’s investment and licensing opportunities, please contact the Business Development and Legal team: Phoebe Macleod Head of Legal & Licensing - Digital Health phoebe.macleod@mcri.edu.au Dr Shari Lofthouse Senior Business Development Manager – Biotech & Medtech shari.lofthouse@mcri.edu.au Dr Jacquie Crawford Intellectual Property Manager Jacquie.Crawford@mcri.edu.au

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