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The University of Queensland Diamantina Institute 2012 Annual Report


Contents 1

Vision Statement


Student Experiences



Governance and Organisation



47 Dr Graham Leggatt


Chair’s Report


SPARQ-ed Alumnus Experience


Dr Stephen Mattarollo


Director’s Report


Autoimmunity Research


Associate Professor


Partnering For Better Health


Dr Antje Blumenthal

Nicholas Saunders


Commercialisation Report

Dr Michelle Hill

34 Professor Matt Brown


Dr Fiona Simpson

8 Occupational Health and Safety

35 Dr Emma Hamilton-Williams


Dr James Wells


2012 Research Highlights

36 Dr Tony Kenna

52 Publications


2012 Research Impacts


58 Collaborations

Associate Professor Ray Steptoe

20 Engagement & Fast Facts

38 Dr Gethin Thomas



Working with our Clinical Colleagues

39 Professor Ranjeny Thomas

61 Grants


2012 Researchers Awards

Granting Bodies and Donors

40 Professor Peter Visscher


25 Seminars


Cancer Research

67 Financials


Studying at The University of


Dr Liliana Endo-Munoz

Queensland Diamantina Institute

44 Professor Ian Frazer


2012 Student Awards


Associate Professor Brian Gabrielli

Research Support Services Staff

Vision Statement Our vision is to improve human health. Our mission is to translate basic science into better treatments. Since its inception, The University of Queensland Diamantina Institute has supported research of the highest quality with the aim of improving human health. We will build on our key attributes; > Focus on translational health research > Dedication to research excellence > Ability to work in partnership > Integration of clinicians with basic science.

In 2013 we move to the Translational Research Institute (TRI) which will bring together over 700 scientists from four partnering institutions (The University of Queensland, Mater Medical Research Institute, Queensland University of Technology and Queensland Health) with strong independent and collaborative research track records in human diseases. We view this as a time of great opportunity and synergy to bring scientific discoveries to human health on a global scale.

These attributes drive our mission of turning scientific discoveries into better treatments.



Governance and Organisation The University of Queensland Diamantina Institute is governed by an Advisory Board, which provides advice to the Director on the strategic direction of the Institute. The Scientific Advisory Committee assists the Director by providing critical review of the scientific programs of the Institute. The UQDI Development Board assists the Director and Deputy Director (Advancement) with networking and fundraising opportunities and ideas to benefit the Institute. Advisory Board: Professor Deborah Terry (Chair) Professor Max Lu Professor Matt Brown Professor Alan Bernstein OC Professor Nick Fisk Professor Stephen Walker Professor Peter Gray Dr Greg Bitomsky OC Mr Malcolm McBratney Dr David Theile AO Professor Ranjeny Thomas

UQDI Scientific Advisory Committee

Research Groups

Scientific Advisory Committee:

Development Board: Mr Peter Bishop Mr Ben Kehoe Ms Sofie Formica Mr Michael Hawkins

Professor Alan Bernstein OC (Chair) Professor Andrew Cope Professor Peter Donnelly FRS Professor Ashley Dunn FAA

Senior Deputy Vice-Chancellor

Institute Director

Deputy Director Education Postgraduate Student Admin

Development Board

UQ Advisory Board

Deputy Director Operations

Deputy Director Facilities


Laboratory Services



Human Resources

Specialist Facilities

Deputy Director Advancement

Marketing/ Communications Research Admin 3

Chair’s Report On behalf of The University of Queensland Diamantina Institute’s (UQDI) Advisory Board, I am delighted to present the Institute’s 2012 Annual Report. 2012 has been another highly successful year for UQDI, with the most noteworthy event being the move to the new Translational Research Institute (TRI) based at the Princess Alexandra Hospital. UQDI is thrilled to be part of this significant new initiative that brings together four high performing research institutes, involving over 650 researchers. TRI will mean increased collaboration and innovation for research not only in Queensland but in Australia and globally, which is an incredible opportunity for UQDI. As part of the move to TRI, the Institute is also undergoing a period of expansion and is strengthening its ties with the Princess Alexandra Hospital, non-government agencies and patient advocacy groups to ensure a clinically relevant research program that maximises the opportunities afforded by being part of TRI. I am looking forward to working with Professor Brown in 2013 during this exciting period in the Institute’s development. Throughout 2012, UQDI researchers continued to work closely with clinicians and patients to identify novel diagnostic, therapeutic and preventative discoveries in chronic disease. New diagnostic therapies are being developed to help with the early diagnosis and accurate treatment of acute myeloid leukaemia and skin cancers. Researchers are working with industry to conduct clinical trial of the world’s first vaccine against rheumatoid arthritis. Other research has led to trials of new therapies for another common immune-mediated arthritis — ankylosing spondylitis. A new research centre in head and neck cancers was also opened, with funding from Atlantic Philanthropies, The University of Queensland and Queensland Health. UQDI researchers are having a global impact in health outcomes, as evidenced by the continuing application of preventative methods and vaccine application against cervical cancer in developing countries.


UQDI expanded its collaborative force in 2012. In association with UQ’s Queensland Brain Institute, UQDI further strengthened research ties with China following the 2011 opening of a joint laboratory in Shanghai dedicated to exploring how genes influence brain development and function. The Australian Cancer Research Foundation invested $2 million at UQDI into targeted cancer and treatment through an individualised oncology care program. The Institute also had outstanding success in the 2012 National Health and Medical Research Council grant round, with several researchers winning project or fellowship support. It was particularly pleasing to note the success of a number of mid-career fellows who should now be able to build on these awards to establish their research careers. Throughout 2012, the Institute continued to excel in translating biomedical research discoveries into real patient outcomes, despite being a period of significant change for UQDI. On behalf of the Board, I congratulate all those involved. We look forward to what 2013 has in store for The University of Queensland Diamantina Institute.

Professor Deborah Terry Senior Deputy Vice-Chancellor, The University of Queensland Chair, The University of Queensland Diamantina Institute Advisory Board

Director’s Report In 2012, The University of Queensland Diamantina Institute (UQDI) commenced a new era of academic expansion with the goal of developing an environment of intellectual innovation and capabilities, supported by leading-edge technologies, with the goal of finding solutions to the prevention, early diagnosis and treatment of chronic disease. Throughout the year, it was a wonderful achievement to note that UQDI researchers were awarded more than $5.3 million in new funding by the National Health and Medical Research Council and the Australian Research Council, achieving grant successes well above Council, with 40% of UQDI project grants funded, well above the national average of ~20%. UQDI researchers continue to work closely with clinicians and patients in their key areas of research into immune-mediated disease and cancers. They have identified novel diagnostic, therapeutic and preventative discoveries in chronic disease. New diagnostic therapies are being developed to help with the early diagnosis and accurate treatment of acute myeloid leukaemia (AML) and skin cancers. A new research centre in head and neck cancers was opened in 2012 with funding from Atlantic Philanthropies, The University of Queensland, and Queensland Health. Researchers are working with industry to bring to clinical trial the world’s first vaccine against rheumatoid arthritis, and other research has this year led to trials of new therapies for another common immune-mediated arthritis, ankylosing spondylitis, and more than doubled the number of genes known to cause osteoporosis. UQDI researchers aim to have a global impact in health outcomes and this is evidenced by the continuing application of preventative methods and vaccine application against cervical cancer in developing countries.

Dr Jian Yang won the Centenary Institute Lawrence Creative Prize (CILC) for his work in genetic underpinnings of complex conditions, and Dr Fiona Simpson won the UQ Trailblazer Competition. A further sign of success and of the high quality of research training provided within the Institute, a number of the Institute’s students were awarded prizes for research excellence in national competitions. As mentioned in the Chair’s report, it has been a year of strengthening collaborations nationally and internationally and a direct focus on recruitment of quality researchers. Additionally, a Collaborative Research Network grant of $5.45M was awarded to UQDI and other partners to work in conjunction with Bond University in genetics of musculoskeletal health and performance. $5.3M in NHMRC grants was awarded to UQDI researchers and I congratulate those who were successful in obtaining funding for their research projects. We hope to gain even more support for our work next year. In 2013, we will continue to increase our research numbers with the recruitment of more high calibre students nationally and internationally. In just two years we have gone from an Institute of approximately 180 to over 230, with the aim of growing to 275 within the next few years. We are extremely excited about being part of TRI in late 2012. TRI is a collaborative scientific venture and we look forward to the research discoveries which await us.

Professor Matthew Brown Director, The University of Queensland Diamantina Institute

The excellence of UQDI researchers has been further recognised with various awards, prizes and Fellowships. Dr Michelle Hill was awarded a prestigious Australian Research Council (ARC) Future Fellowship, Professor Ranjeny Thomas was named a finalist in the GlaxoSmithKline Awards for Research Excellence,


Partnering For Better Health Translational Research Institute (TRI) is the future of biomedical research in Australia. As a shareholder partner in TRI, UQDI is a fundamental component in this Australian-first initiative. Combining the research intellect of four leading research institutes and a co-located biopharmaceutical manufacturer, TRI has the capacity to discover, produce, test and manufacture new treatments and vaccines in one location. Led by Professor Ian Frazer as Chief Executive and Director of Research, TRI represents 650+ researchers from The University of Queensland Diamantina Institute (UQDI), Queensland University of Technology Institute of Health and Biomedical Innovation (IHBI), Mater Medical Research Institute (MMRI) and Queensland Health Princess Alexandra Hospital’s Centres for Health Research. With a focus on common and serious diseases such as cancers, diabetes, inflammatory diseases, HIV, malaria, bone and joint diseases and obesity, TRI aims to accelerate the translation of novel therapies into clinical application that benefit the health and well-being of the global community. The Institute is also a part of Diamantina Health Partners (DHP), a leading academic health sciences alliance; which promotes an integrated model of research, education and best practice health care. TRI includes commercial incubator space for biotech and bioscience start-ups, and exists as an educational facility in the fields of medicine and science, accommodating The University of Queensland’s Faculty of Health Sciences - School of Medicine and School of Nursing and Midwifery, and the flagship school science education program, Students Performing Advanced Research in Queensland (SPARQ-ed). Professor Ian Frazer AC CEO and Director of Research Translational Research Institute


Commercialisation Report by Dr Lisa Bidwell, Commercialisation Manager The University of Queensland Diamantina Institute (UQDI) has continued to pursue its commercial goals throughout 2012 and has achieved success on a number of levels. In addition to progressing a number of technologies towards a commercial outcome, the Institute has a generated a strong pipeline of new technologies that will provide a solid foundation for future years.

Partnerships with Industry UQDI has a strong commitment to industry engagement, and seeks to both strengthen our existing relationships and forge new ones, with the ultimate aim of producing better outcomes for both patients and our partners. Our long standing commercial relationship with CSL Ltd continues to bring benefits to the Institute through sales of HPV vaccine. Based on technology developed by Professor Ian Frazer and Dr Jian Zhou at UQDI in 1991, the world’s first HPV vaccine for the prevention of cervical cancer, Gardasil, has been approved for use in more than 125 countries. Now in its seventh year of sales, more than 95 million doses of Gardasil have been distributed worldwide. During 2012, UQDI undertook collaborative research with Janssen-Cilag to progress the development of a novel treatment for rheumatoid arthritis. The technology was developed in the laboratory of Professor Ranjeny Thomas, and the intellectual property has been licensed into the start-up company Dendright Pty Ltd. Following a seed grant from Janssen-Cilag in late 2011, Dendright has made good progress in advancing the technology towards clinical trials.

In addition to our own projects, the Institute supports a number of collaborative partners through contract research. The 2012 year saw new collaborations formed as well as the renewal of some existing relationships.

New intellectual property A number of new promising technologies reached critical development stages during 2012, with four new provisional patent applications lodged in the fields of cancer treatment, immunology and the diagnosis of genetic conditions. Other patents within the UQDI portfolio continue to be prosecuted in various jurisdictions around the world.

Start-up companies Two start-up companies have been formed, based on technologies developed at UQDI. In 2012: > Dendright Pty Ltd continued to progress the development of its rheumatoid arthritis project in collaboration with Janssen-Cilag and Professor Ranjeny Thomas’ laboratory > Coridon Pty Ltd, which was formed around intellectual property developed by Professor Ian Frazer, secured further funding to progress its HPV therapeutic vaccine program. The company is also making good progress with its lead product, a herpes vaccine.

Support for early stage technology UniQuest Pathfinder funding has played an important role in funding early stage UQDI technologies that require commercial validation. Over the years, this has led to the commercial validation of a number of new technologies and countless patent applications. In 2012, one new UQDI project was funded through this mechanism and has achieved key results which will support the future commercialisation of a novel treatment for osteosarcoma. In addition, a new approach to cancer treatment developed in the laboratory of Dr Fiona Simpson was recognised in UniQuest’s Trailblazer innovative ideas competition. Dr Simpson’s team won the Staff Category in the Grand Final, beating competitors from James Cook University, University of Technology, Sydney, and The University of Tasmania. The $25,000 prize money is being used by Dr Simpson to develop a new diagnostic tool and drug candidate for squamous cell carcinoma (SCC)—a type of skin cancer affecting more than 80,000 Australians every year.

Education The Institute aims to raise awareness of commercial aspects among its researchers through both informal and formal mechanisms including educational seminars and commercialisation workshops. In 2012, 19 of the Institute’s staff and PhD students attended a two-day Commercialisation Workshop sponsored by UniQuest.


Occupation Health and Safety Report by Alison Dahler, Facilities Manager In 2012, UQDI was overseen by the Infrastructure Manager, Workplace Health and Safety Coordinator and Floor Managers, who managed occupational health and safety (OH&S) via a system of review, monitoring and practical implementation involving such areas as procedures, training, inductions, auditing and risk assessments for all research practices. The UQDI Safety Committee met to review all areas of safety and proposed means by which to ensure regulatory compliance whilst maintaining a commitment to improving workplace safety. The University’s goals set out how the Institute met its commitment to providing a safe workplace. The Institute is governed by the Queensland Workplace Health and Safety Act 2011 as well as the University’s own Occupational Health and Safety policies and procedures. With recent legislative changes, 2012 saw the transition and implementation of various new requirements. Some key highlights and activities for UQDI in 2012 include: > Workplace Health and Safety Co-ordinator appointed > OH&S was budgeted and resources directed towards safety and ergonomic equipment > In creating awareness of OH&S responsibilities, UQDI OH&S processes throughout the year have complied with the University’s goals in the provision of information in a number of ways. In particular, documentation control and review in regards to policies, plans and procedures has continued. Updates that have been completed include induction material, Risk Assessments, Lentiviral and

PET-CT operating procedures and off-campus guidelines for the Transport of Biologicals and Dangerous Goods > Inductions and record keeping aimed to ensure that the appropriate OH&S training was received by all workers, students, contractors and visitors, enabling them to perform in a safe manner. Annual staff appraisals also provided a forum to discuss OH&S responsibilities and training opportunities > Consultative process continued both via a local UQDI Safety Committee and through representation on the University OH&S Council sittings. The local committee through consultation with academic, research staff, student and facility area representation reported on significant matters > Hazards and incident reporting continued to be managed at the front line and reported in the UQ online Injury, Illness Incident Reporting System database. All staff and students are encouraged to report hazards and incidents in the work- place. There were only a small number of minor incidents ranging from several trips and falls, muscular injuries, mouse bites, cuts and a chemical related event. All were addressed and corrective actions implemented for practical and administrative procedures as required. In particular, risk assessments and operating procedures were reviewed and updated where appropriate > The following Risk Management and Hazard Identification procedures were implemented: - OH&S Goals Review for 2012 - UQDI Workplace Assessment Checklist for


- Chemical Safety, Risk Assessment and Incident Report Audits - A 2012 OH&S Health and Safety Management Plan > Review and updating of GMP inventories The OH&S mechanisms at UQDI were consolidated throughout a productive year of policy review and compliance with an increased number of initiatives passed on by the UQ OH&S Division. These undertakings complemented the preparation for the move to the Translational Research Institute (TRI) premises in late 2012 and further consultation with TRI and other stakeholders were aligned with providing this transition.

Challenges ahead in 2013 An ongoing target for 2013 is aimed towards the integration of UQ and UQDI institutional level processes into the larger framework of the TRI Occupational Health and Safety management system. Co-operative information dissemination will be elicited via representation of UQDI on the TRI Safety Committee and OH&S user groups, providing a link between all TRI partners. The year will see a review and completion of new OH&S goals in line with those of the University and a reformulation of a 2013 Health and Safety Management Plan. This plan, to be drafted and approved for UQDI, should be subject to continued measurement and comparison of OH&S performance against key indicators. Auditing, training, risk assessments and the formulation and dissemination of OH&S information will be an ongoing process to conform with UQ guidelines and OH&S responsibilities within TRI.

2012 Research Highlights Professor Ranjeny Thomas received backing from Janssen-Cilag Pty Ltd for her innovative rheumatoid arthritis therapy Associate Professor Emma Duncan and Professor Matt Brown doubled the number of identified genes discovered to be responsible for fracture susceptibility and risk of osteoporosis. Associate Professor Duncan was also named Clinical Researcher of the Year at the Australian Society of Medical Research, Queensland Health and Medical Research Awards

Professor Ian Frazer secured a BUPA Health Foundation award for skin cancer research

Associate Professor Brian Gabrielli won an Association for International Cancer Research (AICR) grant towards his research into melanoma

Professor Peter Visscher was named a finalist in the Eureka Science Prize awards. Professor Visscher also published papers regarding genetic influence on IQ as humans age, and identified novel analysis into genetics behind schizophrenia and body mass index (BMI) Dr Fiona Simpson won the UQ Trailblazer Competition for her work in developing a diagnostic tool and drug candidate for squamous cell carcinoma (SCC) Professor Matt Brown led a team of UQDI and Princess Alexandra Hospital researchers who were awarded a $2M Australian Cancer Research Foundation (ACRF) grant for an individualised oncology care department on behalf of UQDI Dr Jian Yang won the $25,000 Centenary Institute, Lawrence Creative Prize for his work in human genetics and heritability of common diseases Dr Michelle Hill was awarded a prestigious Australian Research Council (ARC) Future Fellowship UQDI researchers received a $4M American National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) grant to further identify genetics associated with ankylosing spondylitis

UQDI will collaborate on a national $14M sports science Collaborative Research Network (CRN) grant with Bond University - the largest sports science project in Australia


2012 Research Impacts


A single genetic change helps explain person to person variability in obesity

A global consortium of geneticists led by Professor Peter Visscher of The University of Queensland Diamantina Institute (UQDI) and the Queensland Brain Institute has developed a new method to understand how genetic differences can affect variation in human traits and diseases. Using this method, they have identified a mutation in an obesity-linked gene that contributes to person to person variability in body mass index (BMI). A single nucleotide polymorphism (SNP) is a change in a DNA sequence at a single nucleotide. SNPs are the most common form of genetic variation between individuals, and while many SNPs have little effect, others contribute significantly to observable ‘phenotypes’ such as traits or diseases. Genome Wide Association Studies (GWAS) search for associations between SNPs and phenotypes. Thus far GWAS have been able to identify large numbers of SNPs associated with complex human traits, but these studies have focussed on the association between SNPs and a particular trait. Professor Visscher and his colleagues wanted to examine the link between SNPs and the variability of a trait between people. They began by selecting two human traits known for their complexity: body mass

index (BMI), which is the primary measure of obesity, and height. They then performed a combined analysis of 38 GWAS studies. This represented a collection of more than 2.4 million SNPs from approximately 133,000 individuals for whom BMI and height data were available. Searching for SNPs with a statistical association with these traits, the researchers narrowed the pool down to 42 SNPs at 6 genetic locations, (loci), for height and 51 SNPs at 7 distinct loci for BMI. Further scrutiny revealed that no SNPs were reproducibly associated with height. However, 1 SNP was clearly and significantly associated with BMI. The identified SNP was a replacement of an adenine (A) nucleotide with a guanine (G) nucleotide in the gene FTO. FTO has a known association with obesity; it has been previously shown that individuals with two copies of the G-variant FTO were a few kilograms heavier than those with normal FTO. However, its precise biological role is unknown. Interestingly, the current study shows that the individual BMIs within this G-variant group also varied more widely, suggesting that this particular ‘genotype’ may be more strongly influenced by environmental factors. For example, if the G-variant FTO causes an increase

in BMI, this may have less of an effect on individuals with high levels of physical activity than those with low levels. While the influence of specific environmental factors has yet to be confirmed, these findings suggest that genetic differences in FTO contribute to person to person variability in obesity. Furthermore, the researchers believe that this observable variability could help reveal the function of FTO. This new methodology represents a valuable tool for the investigation of interplay between genotype, phenotype, and environmental factors. It will enable scientists to determine whether a single genetic variant is associated with diversity within a particular phenotype, thus revealing any sensitivity to external factors, without having to first identify those factors. This could shed light on the genetic basis of patient to patient variability in disease as well as variability in response to diet, lifestyle and therapeutic treatments. Yang J, et al; Nature (2012) 490: 267 - 272 (numerous authors v490/n7419/full/nature11401.html)


Identification of a new DNA repair mechanism sheds light on melanoma development

Healthy skin cells use cellular mechanisms to repair DNA damage caused by ultraviolet radiation (UVR) from the sun. The presence of high levels of UVRsignature DNA mutations in melanoma cells suggests that disruption of these repair processes allow the accumulation of genetic mistakes that can lead to cancer. Curiously, the known DNA repair pathways appear to be functional in melanoma. Researchers from The University of Queensland Diamantina Institute (UQDI) have now discovered a novel UVRdamage repair mechanism that is commonly defective in melanomas, revealing a complex interplay between DNA damage repair and cell cycle control. The cell cycle refers to the staged progression of normal cell development, with active phases divided into G1, S, G2, and M. Checkpoints along the way enable the cycle to pause or ‘arrest’, in order for DNA repair to take place.


Most UVR-induced DNA damage is repaired during G1 by Nuclear Excision Repair (NER). Then, in S phase, DNAdamage tolerance (DDT) mechanisms catch the mutations that NER misses. In melanoma, NER is functional and mutations in DDT-associated genes are rare. Associate Professor Brian Gabrielli and his colleagues at UQDI and The University of Queensland’s Institute of Molecular Bioscience discovered that when skin cells were exposed to UVR during G1, they go into cell cycle arrest during G2, indicating a repair checkpoint is activated. The researchers determined this occurs because DDT-associated proteins first identify the UVR-damaged DNA and mark each ‘lesion’ with a single stranded DNA gap. These gaps attract replication protein A (RPA), which in turn interacts with signalling proteins that trigger the observed cell cycle arrest. A comparison of melanoma cell lines showed that those with a defective

G2 checkpoint had much higher levels of UVR signature mutations than those with a functional G2 checkpoint. Moreover, analysis of a collection of melanoma cell lines revealed that nearly 90% had defective G2-checkpoints. The close coupling of the G2 checkpoint and the DTT repair pathway appears to be an important defence against UVRinduced DNA damage. The identification and characterisation of this coupled mechanism broadens our understanding of how skin cells regulate genomic stability, and how this stability is lost in the early stages of melanoma development. Identification of the cell cycle or repair defects in melanoma will provide diagnostic and/or therapeutic targets to treat late stage melanoma where few viable treatment options are available. Wigan M, Pinder A, Giles N, Pavey S, Burgess A, Wong S, Sturm RA, Gabrielli B; Journal of Investigative Dermatology (2012) 132: 1681-1688.

Reversing pro-tumour activity in aggressive prostate cancer cells

Researchers at The University of Queensland Diamantina Institute (UQDI) have shed light on the role cellular cholesterol plays in prostate cancer progression. Caveolae are specialised cup-shaped membrane microdomains enriched with a unique combination of lipids, cholesterol and proteins. Found in cell membranes, caveolae facilitate cell signalling and metabolism by aiding the transport of biomolecules. Two proteins are particularly important to caveolae structure: caveolin-1, a cholesterol-binding cell-membrane protein, and PTRF (Polymerase I and Transcript Release Factor). Of these, caveolin-1 is found in high-risk, aggressive forms of prostate cancer. Dr Michelle Hill previously found that in the aggressive prostate cancer cell line (called PC-3), caveolin-1 does not help form caveolae because of the lack of PTRF protein.

By analysing different compartments in the cell, Dr Michelle Hill and her UQDI team have now shown that when PC-3 cells are modified to produce or ‘express’ PTRF, caveolae re-form and the secretion of pro-tumour proteins, immune-signalling molecules and growth factors is substantially reduced. Team member Dr Kerry Inder explains that without PTRF, the caveolin-1 produced in aggressive prostate cancer cells disrupts the distribution of cholesterol within the cell. The resulting microdomain is defective and can no longer bind its normal suite of signalling proteins. Instead it favours recruitment of pro-tumour proteins and biomolecules. Moreover, because normal cellular secretion usually relies on a steady cholesterol gradient in the cell, the disruption of cholesterol distribution alters those pathways as well. In short, abnormal production of

caveolin-1 in the cell leads to enhanced secretion of pro-tumour biomolecules which helps to create an environment that encourages both the growth of a tumour and its ability to spread. Expressing PTRF enables caveolin-1 to remain at the caveolae. This leads to a return of normal cholesterol distribution and a reversal of the aggressive properties of the cancer cells. This study opens new areas of exploration into the interplay between cholesterol, PTRF and caveolin-1 in a broad range of cancers and provides promise for the development of novel therapies that target aggressive forms of prostate cancer. Inder KL, Zheng YZ, Davis MJ, Moon H, Loo D, Nguyen H, Clements JA, Parton RG, Foster LJ, Hill MM; Molecular & Cellular Proteomics (2012) Feb;11(2): doi 10.1074/mcp.M111.012245


Genetic study provides new insight into the causes of osteoporosis and fracture susceptibility

The University of Queensland Diamantina Institute (UQDI) has played a leading role in a large scale genetic study of osteoporosis. This research has more than doubled the number of genes associated with this common and disabling disease, thereby increasing the number of potential therapeutic targets and improving the diagnostic capacity of genetic tests. Osteoporosis is associated with low bone mass and bone tissue deterioration, resulting in a high risk of fracture, and subsequent disability. Worldwide, osteoporotic fracture is a leading cause of admission to hospital in women over the age of 40. Osteoporosis accounts for around 1.5 million new fracture cases every year. In Australia, 1 in 2 women and 1 in 3 men over 60 will have an osteoporotic fracture within their lifetime. A key indicator of osteoporosis is low bone mineral density (BMD) and up to 80% BMD variation is genetically determined, consistent with the high heritability of osteoporosis. Nevertheless, the responsible genes have remained largely unknown. In recent years, genome-wide association studies (GWAS) have enabled scientists to study whether variations at particular genetic locations, or ‘loci’, are associated with a certain trait or disease. Prior to this study, GWAS had identified 24 loci that appear to be associated with BMD. In order to shed more light on the genetic


factors affecting BMD variation, and in turn, osteoporosis, UQDI researchers Associate Professor Emma Duncan and Professor Matt Brown played leading roles in an international consortium of investigators from across Europe, North America, East Asia and Australia, bringing together more than 50 independent studies. Overall, more than 80,000 individuals with scans to assess BMD, as well as more than 30,000 cases with fracture and 100,000 controls without fracture were studied in what constitutes the largest genetic study in osteoporosis performed to date. The researchers identified 32 new genomic loci associated with BMD variation, 14 of which were found to increase fracture risk. This is the first time such a large number of genetic variants have been associated with fracture risk. Analysis revealed that women with an excess of BMD-decreasing variants have significantly higher risk of osteoporosis and fracture. Conversely, some individuals possess genetic variants that appear to protect them from these outcomes. The Australian research cohort, led by Associate Professor Duncan, provided the most powerful individual component of the study. This was due to the recruitment of individuals with more extreme bone density, which yielded more statistically powerful results. Overall this research leads to greater understanding of the biology of skeletal health and fracture susceptibility.

The data yielded new loci associated with proteins and pathways already known to be important in bone, particularly pathways involved in bone anabolism (or bone formation) emphasing the importance of good bone development at a young age in the prevention of osteoporosis later in life. More excitingly, the study also revealed loci that point to previously unknown biological mechanisms and pathways, providing new insight into the complex biology of osteoporosis. The study also provided further evidence that the condition is the result of hundreds of genetic variants each making small contributions; and that knowing what variants an individual carries can help to predict their own risk of osteoporosis and fracture. “By identifying the pathways involved in bone formation we are identifying new therapeutic options to improve bone density and hence fracture risk in our aging osteoporotic population,” explains Associate Professor Duncan. Further analysis of the study outcomes are underway and UQDI researchers are continuing to develop new technologies and approaches to elucidate the complex genetic underpinnings of osteoporosis. Estrada K, Styrkarsdottir U, Evangelou E, Hsu Y, Duncan EL, et al; Nature Genetics (2012) 44: 491–501. (Numerous authors: v44/n5/full/ng.2249.html)

A mathematical solution unlocks hidden heritability in genetic studies

2012 Jian Zhou Award Winner: Dr Jian Yang The University of Queensland Diamantina Institute researchers and their collaborators have developed a new method and software tool that enables extremely detailed information about genetic variations to be extracted from large genetic studies, providing valuable new insight into the complexities of inherited traits and diseases. In recent years, genome-wide association studies (GWAS) have revolutionised the understanding of the genetic contributions of common, complex diseases, profoundly impacting all areas of human biomedical research. In GWAS, researchers scan genomes of many thousands of individuals in order to find a link between single nucleotide polymorphisms (SNPs), which are single base-pair changes in DNA, and a trait or disease. By examining SNPs in large samples researchers are able to determine if changes at a particular genetic region, or ‘locus’, are associated with a certain trait or disease. The more DNA samples in a GWAS, the greater its statistical power. However large scale sample collection poses a challenge. As a solution, a meta-analysis pools the summary data from multiple GWAS investigating the same trait. This allows researchers to identify larger numbers of SNPs and observe previously undetectable patterns. In a meta-analysis, examining the SNP with strongest signal in a locus is

straightforward, but because the meta-analysis comprises only summary data, it is difficult to determine whether multiple signals are also present at that locus. In theory, each SNP could be examined by a process called ‘conditional analysis’ in a step-wise manner across the genome. But when dealing with large volumes of data, this is incredibly time consuming and requires detailed genetic data from each GWAS, which are not always accessible. Dr Jian Yang and Professor Peter Visscher of UQDI and the Queensland Brain Institute, together and their colleague Professor Mike Goddard at the University of Melbourne, proposed a mathematical solution to this problem. Every GWAS includes information about Linkage Disequilibrium (LD), which tells you to what degree any two SNPs are associated with each other. They realised that it is actually feasible to perform a conditional analysis using just the summary- data from the meta-analysis and the LD information from only one GWAS. With this method, the detailed genetic data from each GWAS is not needed. Based on this, Dr Yang developed a software program. As proof of principal, the research team selected a common, complex trait for which there are a large number of GWAS studies available: human height. They obtained data from a meta-analysis that had been performed by the GIANT Consortium, which comprised the pooled summaries from over 50 independent

GWAS and included over 2 million SNPs. Using the summary-level data from the meta-analysis and LD information from just one of those GWAS, they identified 36 genetic loci, each harboring multiple SNPs associated with height. The method and software is already popular and has been used by research consortiums around the world. Crucially, the method allows researchers to assess more accurately how much a gene locus contributes to a disease or trait, enabling them to narrow in on the causal gene or genes. Moreover, the detailed genetic information revealed by this new analysis could be used to more accurately predict certain traits or assess disease risk in a clinical setting. This new research tool is unlocking hidden heritability from existing genetic studies and will change the way such studies are conducted in future. The impact of this will be felt in a large number of fields from medical genetics to evolutionary biology. Yang J, Ferreira T, Morris AP, Medland SE; Genetic Investigation of ANthropometric Traits (GIANT) Consortium; DIAbetes Genetics Replication And Meta-analysis (DIAGRAM) Consortium, Madden PA, Heath AC, Martin NG, Montgomery GW, Weedon MN, Loos RJ, Frayling TM, McCarthy MI, Hirschhorn JN, Goddard ME, Visscher PM; Nature Genetics (2012) Mar 18 44(4): 369-75.


An altered stress response in immune cells influences disease progression in Type 1 Diabetes

The University of Queensland Diamantina Institute (UQDI) researchers have now identified a unique pattern of genetic activity in a class of immune cells in patients with Type 1 Diabetes (T1D). This pattern correlates with disease severity and helps to explain the immune system’s role in the early stages of disease progression. In T1D the patient’s own immune cells attack and destroy the insulin-producing cells in the pancreas. T1D primarily arises in childhood, and its incidence is increasing annually. Patients require life-long insulin management and can suffer an array of debilitating complications. A number of genes are associated T1D susceptibility, but environmental triggers are also required, with recent evidence pointing towards certain viruses and rising obesity in the population. However, it remains unclear what role the immune system plays in disease initiation and progression and whether this could be influenced by specific therapies, such as those used in rheumatoid arthritis. Early immune upsets in T1D are indicated by the presence of activated immune cells in the pancreas. These cells, specifically macrophages and dendritic cells, are believed to help mediate destruction of the insulin-producing cells. 16

Monocytes are a precursor cell-type of both macrophages and dendritic cells. As such, a team of UQDI immunologists, led by Professor Ranjeny Thomas, hypothesised that this would be an ideal cell type in which to search for new markers that could reveal early deviation from normal immune activity in T1D. There are three subtypes of monocyte and normally these are in balance with each other, but the researchers found that this balance is lost in children with recent onset T1D. They then examined which genes were turned on, or ‘expressed,’ in the monocytes of T1D patients and healthy controls. They discovered that the monocytes of some T1D patients had a gene expression pattern that was distinct from the others. Interestingly, although these patients (dubbed ‘Group B’) were clinically indistinguishable from the others at diagnosis, by 12 months their condition was more severe. In spite of receiving higher doses of insulin over the year, their blood glucose control was never as good. Closer inspection revealed that the Group B monocytes had altered expression of genes involved in cellular energy processes and the production of metabolites, which are essential for cell growth and maintenance. They also had higher

levels of gene products associated with maintaining cell integrity under stress. This suggests that the Group B monocytes are under high levels of stress, or are particularly sensitive to mild increases in stress, either of which could trigger toxic side effects including cell death or detrimental changes in the way energy is handled in the cell. These findings strongly suggest a metabolic disturbance in the monocytes of patients with more severe T1D, and this likely effects the rate of disease progression and the development of complications. This research sheds new light on the early immune mechanisms at play in T1D and could help guide the development of better treatments. Moreover, by narrowing in on a small number of gene products unique to the Group B patients, Thomas and her colleagues have enabled the development of a simple blood test that can be used to monitor levels of these gene products in T1D patients and children at risk of developing the condition. Irvine KM, Gallego P, An X, Best SE, Thomas G, Wells C, Harris M,  Cotterill A, Thomas R; Diabetes (2012) 61(5): 1281-90.

Next-generation sequencing uncovers a genetic mystery in skeletal dysplasia

Jian Zhou Award Runner-Up: Associate Professor Emma Duncan Finding the genes that cause disease can be tricky when the disease is common, but is even harder when the disease is rare. This is a particular problem when looking at skeletal dysplasias, a group of diseases that affect the development and growth of the skeleton, as the disease itself can affect reproductive fitness, making it harder to recruit sufficient patients for an informative genetic analysis. UQDI researchers are now leading the way in the development of new genetic methods that target single gene diseases. In collaboration with Associate Professor Andreas Zankl from The University of Queensland Centre for Clinical Research, UQDI Associate Professor Emma Duncan (also based at Royal Brisbane and Women’s Hospital) coordinated an international research team that together identified the gene that causes the rare skeletal disease multicentric carpotarsal osteolysis (MCTO). They initially found this gene using the DNA of just five unrelated patients. MCTO is characterised by progressive bone resorption (osteolysis). The disease is associated with a severe and progressive deformity in the hands and feet. For unknown reasons, many patients also develop end

stage renal failure. MTCO can occur sporadically – as a new mutation within a family – or can be inherited by multiple relatives. However, the underlying defect had remained elusive. The research team used next-generation sequencing to compare the affected individuals’ exomes - the coding section of the genes – to each other and against the reference sequence from the international Human Genome Project. Using an iterative process, they narrowed a pool of nearly 60,000 genetic variants down to 237. Once they determined which of these were common amongst all five patients and ruled out those that did not fit the disease’s inheritance pattern, only one gene remained: MAFB. The MAFB gene encodes for the MafB protein, a transcription factor. MafB facilitates the production of proteins that disrupt the development and activity of osteoclasts, which are the bone cells that break down bone. In other words, when MafB functions properly, it acts as an off-switch for the resorption of bone tissue. MafB is also known to play an important role in renal development. Analysis revealed that each of the patients carried a mutation in the same domain of MafB, suggesting that mistakes in this region lead to a malfunction in MafB activity, allowing over-production of

osteoclasts. Investigations are underway to determine how this might occur, and also to delineate the role these MAFB mutations play in renal impairment. These findings are anticipated to open new avenues for therapeutic development. “We’ve discovered a pathway with a potential solution already available,” says Duncan, referring to an existing antibody therapy that targets RANKL, a protein affected by MafB signalling. The next step is to establish whether this pathway is definitely disrupted, and, if so, whether treatment directed at RANKL can be used effectively and safely in MTCO patients. UQDI Director Professor Matt Brown explains that not only is this research of great significance to families affected by MTCO, but it has profoundly improved the capacity of genetic tests to identify the causative gene in rare single gene diseases, which affect approximately 1% of Australians. UQDI researchers are already using the new methodology to determine the causes of other single-gene inherited diseases. Zankl A, Duncan EL, Clarke G, Glazov E, Addor MC, Kim CA, Leheup BP, McGill J, McTaggart S, Mittas S, Mitchell A, Mortier GR, Robertson SP, Schroeder M, Terhal P, Brown MA; The American Journal of Human Genetics (2012) 90(3): 494-501. 17

Discovery of an important cellular player in the skin’s immune response

If a bug or virus gets through the physical barrier presented by the skin, immediate action is needed. Dr Azad Rahimpour, Professor Ian Frazer and their colleagues at The University of Queensland Diamantina Institute (UQDI) have identified a cell in the skin that plays a key role in this process. Without this cell type, the body’s defensive action is slowed, and might not be fast enough to repel the invader. This cell is called a gamma-delta T cell, and the UQDI researchers have now shown that it helps the immune system become aware of the invader quickly. Normally, when the human body encounters invaders such as bacteria or viruses, immune cells first identify the invader and alert the rest of the immune system. The ‘killer’ cells in the immune system then recognise and destroy any infected cells. The epithelium comprises the top layer of cells that line the body’s surfaces,


including the skin, and represents the first opportunity for the immune system to eliminate dangerous microorganisms in this manner. However, it is also home to harmless microbes that the immune system leaves alone. The mechanisms that allow such different immune responses are not well understood. Moreover it is unknown how epithelial cancers caused by viruses such as Human Papilloma Virus (HPV) are able to evade immune recognition. T-cells are immune cells that play a crucial role in immunity, and it is known that the epithelium harbours a unique class of T-cells called gamma delta T-cells (‘γδT-cells’). Given the locality of these cells, the researchers wanted to know what role they play in epithelial immunity. They first grafted skin cells containing a foreign protein onto a group of mice. This elicited an immune reaction and the

grafts containing the ‘foreign antigen’ were rejected. When the experiment was repeated using mice that had no γδT-cells, the level of graft rejection was significantly reduced. This suggests that γδT-cells are involved in the recognition of foreign invaders and help initiate the immune response. By revealing a key cellular player in the epithelial immune response, this work represents an important step toward understanding how the immune system responds to epithelial tumours, and will help guide research into how cellular mechanisms associated with γδT-cells could be modified to generate an anti-cancer immune response. Rahimpour A, Mattarollo SR, Yong M, Leggatt GR, Steptoe RJ, Frazer IH; Journal of Investigative Dermatology (2012) 132(6): 1656-64.

Discovery of a cellular pathway yields clues to the inflammatory triggers of Ankylosing Spondylitis

Ankylosing Spondylitis (AS) is a form of arthritis that affects up to one in two hundred people and involves chronic inflammation, particularly of the spinal and pelvic joints. The inflammation triggers uncontrolled bone growth, effectively fusing the joints into a fixed position and causing significant pain and disability. Current therapies only broadly target inflammation and are associated with unwanted immunosuppression. Little is known about the cellular mechanisms responsible for AS development.

a molecular messenger between immune cells. When IL-23 binds to its cell-surface receptor protein, IL-23R, a biochemical cascade is triggered that increases levels of another cytokine, IL-17, known for its role in inflammation. The IL-23 cascade has been linked to autoimmune and inflammatory disorders in animal models, but its role in human disease, particularly AS, remained unclear.

Now, researchers at The University of Queensland Diamantina Institute, in collaboration with clinicians at Flinders Medical Centre in Adelaide, have identified the involvement of a specific cell group and biochemical pathway in AS.

Led by Professor Matt Brown and Dr Tony Kenna, the research team discovered that immune cells from AS patients make more IL-23R and secrete higher levels of IL-17 than those from Rheumatoid Arthritis patients or healthy subjects. The cells responsible were identified as gamma-delta T-cells (γδT-cells).

AS is highly heritable and recent studies by scientists at UQDI and around the world have identified an expanding list of genetic factors associated with AS. Among these is a gene that codes for a protein called IL23R. IL-23 is a ‘cytokine’,

Normally, the inflammatory effect of IL-23 signalling is offset by a third cytokine, interferon gamma (IFN-γ), provided levels of IL-17 and IFN-γ are balanced. Analysis revealed this balance is lost in the γδT-cells of AS patients. Instead the

four-fold increase in IL-17 to IFN-γ appears to act as a strong proinflammatory signal, suggesting that the IL-23 cascade is a major driver of inflammation in AS and that γδT-cells are crucial mediators of that effect. Interestingly, it was recently shown that IL-23-driven regulation of γδT-cells is also involved in the early immune response to bacterial infection. That this same pathway plays a role in AS-associated inflammation supports the emerging theory that a combination of genetic predisposition and exposure to certain microbes could trigger AS. This suite of discoveries provides new insight into how AS could be regulated therapeutically and perhaps one day prevented. Kenna TJ, Davidson SI, Duan R,  Bradbury LA, McFarlane J, Smith M, Weedon H, Street S, Thomas R, Thomas GP, Brown MA; Arthritis & Rheumatism (2012) May 64(5): 1420-9.


Engagement & Fast Facts Fast Facts > 18 research leaders > 225 research and support staff > 46 enrolled research higher degree students > Over 130 collaborations > Two spin-off companies: Dendright and Coridon > 95 million doses of the cervical cancer vaccine administered in 125 countries


Working with our Clinical Colleagues Dr Tony Kenna

Dr Liliana Endo-Munoz

Dr Kenna’s passion for immunology began at undergraduate level in Dublin City University, where he learnt some of the fundamentals of how the immune system works and what goes wrong when it doesn’t operate properly. Dr Kenna was fortunate enough to undertake a PhD in human immunology at University College Dublin, studying T cell subsets in human liver and examining the role those cells played in fighting liver cancer. He switched fields, and country, soon after completing his PhD and undertook post-doctoral studies in autoimmunity models with Associate Professor Ray Steptoe. This provided invaluable research experience but also highlighted his passion for directly studying human disease rather than models.

Osteosarcoma (OS) is the most common malignant bone tumour in the paediatric age group. The major complication of OS is metastasis, or spread, of the tumour from the bone to the lungs. Patients who develop metastasis are resistant to current treatments and thus have a very poor prognosis. Little is known about what regulates OS metastasis and finding an answer has occupied the most part of my last 9 years at the UQDI.

In his current position, Dr Kenna collaborates heavily with a number of clinicians to study forms of autoimmune arthritis. His role is to try to understand what goes wrong with the immune system in these diseases that causes it to attack healthy tissues. “Collaborations with clinicians, including Professor Matt Brown and Professor Ranjeny Thomas, inform Dr Kenna of the unmet medical needs in the diseases he studies. This helps steer his focus towards the ultimate goal of bench-to-bedside medical research. Clinical colleagues also provide access to samples from patients and health controls which Dr Kenna and his team use to interrogate the function of immune cells from those individuals. Professor Matt Brown’s genetic discoveries also provide a disease ‘road map’, highlighting strong genetic differences between patients and controls, pointing towards likely components of the immune system which contribute to disease. Recent discoveries in the lab indicate an important role for the gut in determining how the immune system works and suggest alterations in the immune system operations in the gut can influence what happens to our joints (and elsewhere within the body). Dr Kenna collaborates with Dr Francesco Ciccia from Palmero, Italy, who obtains gut samples from arthritic patients. Dr Kenna’s close clinical ties facilitate rapid progress in our understanding of the basis for autoimmunity.

The research into OS metastasis was born out of a close collaboration with clinicians at the Princess Alexandra Hospital (PAH) and Wesley Hospitals. Orthopaedic surgeons, Professor Ian Dickinson and Dr Scott Sommerville, had the vision to store tumour biopsy samples for future genetic analysis, thus creating the first OS tumour bank in Australia. Together with Associate Professor Nicholas Saunders, Dr Endo-Munoz took up the opportunity and looked for differences in gene expression between tumours of patients who had developed metastasis and those who hadn’t, hoping that differences in gene expression would give us a clue into what was regulating OS metastasis. They did find differences in gene expression between the patient tumours and follow-up of the data finally led us to identify the osteoclast, a common bone cell, as a major regulator of metastasis in OS. The process of metastasis is complex and the OS work has now expanded into several lines of research. These have led Dr Endo-Munoz to the discovery of novel potential therapeutic targets and treatments that have yielded excellent results in experimental mice, dramatically reducing lung metastasis. In collaboration with PAH and Wesley Hospital Clinicians, Dr Scott Sommerville (orthpaedics) and Dr Warren Joubert (oncology), and Dr Rodney Straw, Director of the Brisbane Veterinary Specialist Centre, they will soon begin trialing two new therapeutics in a pre-clinical model of OS. Their hope is that these trials will be successful and that they will pave the way for clinical trials in OS patients that will provide new effective treatments to improve prognosis.



Working with our Clinical Colleagues Dr Helen Benham

Associate Professor Nicholas Saunders

Dr Helen Benham is a consultant rheumatologist at the Princess Alexandra Hospital and commenced her PhD with The University of Queensland Diamantina Institute in January 2010.

Saunders trained as a pharmacologist and maintains research interests in squamous cell carcinoma of the mucosae or skin, osteosarcoma, chronic lymphocytic leukaemia and breast cancer.

Her PhD is focused on IL-23 signalling in the pathogenesis of Spondyloarthropathy (SpA). To date, Dr Benham’s research has involved human T cell work with characterisation of Th17 and Th22 cells in patients with psoriasis and psoriatic arthritis with Professor Hill Gaston in Cambridge, UK and further investigation of the Th17/IL-23 axis in the SKG mouse model of SpA with Professor Ranjeny Thomas at UQDI. She completed her medical degree at Sydney University in 2002 and post-graduate clinical training in rheumatology in Brisbane and was granted her FRACP in June of 2010. Dr Benham is currently writing her thesis with a view to completing her PhD in 2013. Her career vision is to combine clinical, research, and teaching work for the betterment of her patients and all those with who suffer with rheumatological disease.

His group’s specific projects arise from two lines of enquiry 1) identifying those normal processes that are disrupted and contribute to cancer and 2) exploiting their scientific research resources to address questions that could lead to improved patient outcomes. To do this they must have an extensive knowledge of basic biological processes and a “working knowledge” of specific cancer types and the challenges facing cancer clinicians. These types of projects cannot be done alone and require close and strong working collaborations with research groups and cancer clinicians/pathologists.   These collaborations extend to training clinical staff in research practice and also providing a resource to allow clinicians to use our expertise to address questions that they have an interest in.  Providing this type of research framework helps build research capacity, improve clinical practice and helps build confidence in patients that they will receive the very best and latest care.  This type of research strategy also provides unexpected benefits and so Associate Professor Saunders and his clinical colleagues are about to initiate a clinical trial in dogs with their veterinary oncologist colleagues.


2012 Researcher Awards Dr Antje Blumenthal

Dr Stephen Mattarollo

> Australian Infectious Diseases Research Centre Collaborative Grant. 2012; Blumenthal, Sweet, Engwerda

> Victorian Cancer Agency – Early Career Seed Grant ($AUD 49,970)

> Balzan Research Fellowship (2010 - 2015)

> Australian Society of Immunology - International Travel Award ($AUD 3,000).

> University of Queensland Postdoctoral Research Fellowship (2010 - 2012)

> CASS Foundation Travel Grant ($AUD 3,500)

Professor Matt Brown

Associate Professor Nicholas Saunders

> Australian Cancer Research Foundation. ‘Diamantina Individualised Oncology Care Centre’. $2 million in direct funding, $1.297 million in matching funding. MA Brown, I Frazer, M Gandhi, D Gill, M Hill, P Marlton, N Saunders, N Shaw, P. Soyer, E. Walpole. (2012-14)

> Cancer Council Queensland Senior Research Fellowship, $700,000 (2012-2016)

> Australian Government Department of Industry, Innovation, Science, Research and Tertiary Education. Collaborative Research Network Grant. $5,751 million. A Calder, MA Brown, MA Fiatarone Singh, N Brown. (2012-14)

> Saunders NA. Dysregulated H3K27me3 contributes to differentiation-insensitivity and squamous cell carcinoma development. Cancer Council Queensland, #APP1025479, $200,000 (2012-2013) > Endo-Munoz L, Saunders N. Validation, in vivo, of two novel therapeutic targets for osteosarcoma. UniQuest Pathfinder grant. $47,130 (2012)

> National Institute of Arthritis and Musculoskeletal and Skin Diseases. ‘Australo-Anglo-American AS Consortium’. Principal Investigators JD Reveille, MA Brown. $US 4 million, (2012-16)

> Bennett I, Brown M, Saunders NA. Examination of the Expression and Potential Role of Cancer Associated Viral Sequences in the Causation and Outcomes of Breast Cancer Patients. Wesley Research Institute. $210,000 (2012-2013)

> NHMRC Senior Principal Research Fellowship. APP1024879. $794,860, (2012-16)

> Endo-Munoz, Evdokiou A, Saunders NA. Characterisation of two novel markers of osteosarcoma metastasis as potential therapeutic targets. NHMRC #APP1049182, $603,000. (2013-2015)

Dr Liliana Endo-Munoz > UniQuest Pathfinder Grant 2012: Validation in vivo of two novel therapeutic targets for osteosarcoma ($47,130) > UQ Early Career Researcher Grant 2012 (Elizabeth Maisie Handy Bequest): Identifying the inherent factors that drive the spread of osteosarcoma tumour cells to the lungs ($40,000)

Professor Ian Frazer > Made a Companion of the Order of Australia

Dr Brian Gabrielli > Association for International Cancer Research Project Grant (Gabrielli, Sturm, Hayward). Functional assessment of new melanoma dominant genomic mutations. (2012-2015)

Dr Emma Hamilton-Williams > NHMRC Project Grant. A Novel Role For The IL-2 Pathway In Type-1-Diabetes, $527,200

Dr Michelle Hill > Australian Research Council Future Fellowship

Dr Tony Kenna > Arthritis Australia Project Grant > Arthritis Australia Heald Fellowship

Dr Graham Leggatt > New Staff Research Start-Up Fund 2012 > “Development of therapeutic HPV polynucleotide vaccine”. UniQuest Pty Ltd 2012 > NHMRC Development Grant 2012


> Khosrohtehrani K, Lyons G, Saunders NA. Tracking epidermal clonal evolution during skin cancer induction and progression. #APP1049341, $610,000 (2013-2015) > Brown M, Frazer I, Gandhi M, Gill D, Marlton P, Martin J, Saunders N, Shaw N, Soyer P, Walpole E. Diamantina Individualised Oncology Care Centre. $2,000,000. (2013)

Dr Fiona Simpson > Cancer Council Queensland Cancer Research Project Grant -The role of epidermal growth factor receptor trafficking in tumour progression and patient therapy resistance > UniQuest Trailblazer Grand Final Winner

Dr Gethin Thomas > Queensland Government’s Smart Futures Co-Investments Fund (2012) - A Unique Queensland Collaborative Facility (TIA – QLD Node) for Translating University Life Sciences Discoveries into High Value Products for Commercialization ($2,000,000) (Co-CI) > Rebecca Cooper Foundation (2012) - Assessment of novel treatments in ankylosing spondylitis $20,000 (CIA)

Seminars UQDI hosts key national and international speakers as part of its research programs Professor Bryan Burmeister

Associate Professor Marc Achen

Queensland Health

Peter MacCallum Cancer Centre

Dr Kristen Radford

Dr Scott Mueller

Mater Medical Research Institute

University of Melbourne

Dr Gethin Thomas The University of Queensland Diamantina Institute

Dr Robin Anderson Peter MacCallum Cancer Centre

Professor Matt Trau

Dr Angus Harding

The University of Queensland

The University of Queensland Diamantina Institute

Dr Jim Coward Mater Medical Research Institute

Dr Michele Grimbaldeston

Dr Emma Hamilton-Williams

Dr Helen Rizos

The University of Queensland Diamantina Institute

University of Sydney

Centre for Cancer Biology

Dr Daniel Andrews

Dr Patrick Bertolino

Peter MacCallum Cancer Centre

Centenary Institute

Associate Professor Michael Hickey

Dr Katherine Kedzierska

Monash University

University of Melbourne

Dr Kate Stacey The University of Queensland

Walter & Eliza Hall Institute

Dr Gabrielle Belz

Professor Ranjeny Thomas

Dr Nicole Walsh

The University of Queensland Diamantina Institute

St Vincent’s Institute

Professor William Rosenberg

Dr Ingrid Winkler Mater Medical Research Institute

The University of Queensland

Marc Pellegrini

Dr Graham Leggatt

Walter & Eliza Hall Institute

The University of Queensland Diamantina Institute

Dr Michelle Hill The University of Queensland Diamantina Institute

Professor Phil Hugenholtz The University of Queensland

Dr Shane Grey

Dr Fiona Simpson

Garvan Institute

The University of Queensland Diamantina Institute

Associate Professor David Booth

Dr Manuel Ferreira

University of Sydney

Queensland Institute of Medical Research

Dr Marcel Dinger The University of Queensland Diamantina Institute


Studying at The University of Queensland Diamantina Institute Training tomorrow’s research leaders by Dr Gethin Thomas, Deputy Director (Education) The University of Queensland Diamantina Institute (UQDI) seeks to attract the most promising students and clinicians by providing world-class research training opportunities. As a student of UQDI, each is given the chance to undertake research in an environment dedicated to the pursuit of excellence, where researchers are given the freedom and support to challenge the frontiers of biomedical and translational science. Students are encouraged to develop their research skills, to develop research acumen and will become an active and employable member of the community - from communication to commercialisation. UQDI students join a stimulating interdisciplinary team of researchers that includes molecular bioinformaticians, immunologists, geneticists, clinicians and biostatisticians. There are currently 43 research higher degree (PhD and Masters, RHD) students enrolled at UQDI. In 2012 the Institute had four RHD students graduate and another six submit their theses. We also had 21 undergraduate students studying at the institute in various guises including Honours and MBBS students. RHD students are supported by at least two supervisors and a thesis committee to aid in critical assessment of, and smooth progression through, the research project. Further support is provided by the Deputy Director (Education) who oversees all students, and a Postgraduate Administration Officer who helps administer procedures.


A great advantage of our smaller size is our ability to invest more time into our students. To further expand the breadth of the research experience, students participate in the UQDI Professional Development Series which incorporates workshops in bioinformatics, ethics, business, grant writing, scientific writing, presentations, dealing with the press, the philosophy of science, and other key areas. The aim of this series is to widen the skills base of our students and to equip them for the diverse career options that are open to high-calibre research higher degree graduates. This series is organised by our in-house Science Writer, who also provides one-on-one support to assist in honing the writing and presentation skills of our student body. UQDI provides travel awards of up to $10,000 to enable students to visit other laboratories and to attend conferences to acquire new skills, establish collaborations and meet future employers. Our past students have gone on to research positions at premier institutes worldwide including Cambridge, Oxford, Harvard, Johns Hopkins, and the MD Anderson Cancer Centre. We commenced a new initiative in 2012 to raise our international profile and strengthen links with Fudan University, one of China’s premier research Universities. Six Fudan undergraduate students in clinical and basic medicine spent six weeks in an immersion program undertaking research projects at UQDI and the Queensland Brian Institute as well as receiving English language tuition. It is hoped that this program will encourage these students to pursue research careers and hopefully return to UQ to undertake PhDs.

2012 Student Awards Mehlika Hazar-Rethinam

> HKU-Pasteur Virology Course Best student award

> UQDI Travel Scholarship

ATSE Young Science Ambassadors award

> MEPSA (Molecular and Experimental Pathology Society of Australasia) Student Conference Travel Scholarship

> HKU-Pasteur Institute Travel fellowship

Christina Gosmann > Attendee of the American Association for Cancer Research (AACR) Translational Cancer Research for Basic Scientists workshop in Boston, MA > UQDI Training Fellowship > 9th Innate Immunity Student Travel Award at the 2012 9th International Conference on Innate Immunity in Rhodes, Greece

Roland Ruscher > Runner-Up, UQDI 3MT competition

> Nature Immunology first place poster prize, Lorne I&I conference

Helen Benham > Australian Rheumatology Association Travel Award - for ARA scientific meeting > Young Investigator Prize – Australian Rheumatology Association > Best Scientific Poster Princess Alexandra Hospital Week

Fawzi Bokhari > EMBL Corporate Partnership Registration Fee Fellowship

> People’s Choice, UQDI inter-institute final 3MT competition

Sunny Moon

> UQDI Student Travel Award 2012

> UQDI Jian Zhou Travel Award

> Australasian Society for Immunology (ASI) travel bursary 2012

April Choi

Katelin Haynes

> Cancer Council Queensland Travel Grants-in-Aid

> ATSE Young Science Ambassador

Adrian Cortes > GSITA Travel Award > UQDI Jian Zhou Travel Award > Best Student Presentation at the 9th GeneMappers Conference > Best Student Presentation at the 8th International Congress on Spondyloarthropathies

Jana McCaskill > Australian Federation of Graduate Women Fellowship > Oral presentation prize, SMBS International Postgraduate Symposium > UQDI Travel Award

> Young Investigator Awards (Basic Science), Princess Alexandra Hospital Health Symposium

Richa Singhania > EMBO/EMBL symposium registration fee fellowship and travel grant > Selected speaker and registration fee waiver to attend the RNAi and miRNA track of the Genomics Research Europe conference in Frankfurt, Germany > Smt Mangala Bamane Award for best oral presentation at the International Symposium on ‘Cancer Genomics and its Impact in the Clinics’ in Mumbai, India > Cancer Council Queensland Travel and Study Grant to attend the International symposium on ‘Cancer Genomics and its Impact in the Clinics’ in Mumbai, India

> Women in Technology PhD career start highly recommended award


Student Experiences PhD Student: Adrian Cortes I completed my Bachelor of Science and Master of Science at The University of British Columbia in mathematics and bioinformatics, respectively. During my last years at UBC I decided I wanted to continue my academic career working in aspects of genomics and immunology. With these particular interests I was naturally attracted to the research of Professor Matthew Brown. I sent him an email about potential PhD opportunities within his lab, and a few weeks later I was planning the move to Brisbane to start my PhD. I am very pleased I made the decision to come to UQDI as my experiences here have exceeded my expectations. The interdisciplinary approach taken by the group to crack one disease - which literally goes from the clinic, passed the wet and dry labs, back to the clinic - has been a formative journey, with valuable exposure to disciplines that I knew little about.

in Gent, Belgium, which is one of the major medical conferences for ankylosing spondylitis research. In this conference I was awarded the best student science oral presentation. The second conference I attended was the annual meeting of the American Society of Human Genetics in San Francisco, USA, which is the major international genetics conference with almost 8,000 attendees. At this conference I also had the opportunity to present my work with an oral presentation at a session called “Chipping away at Autoimmune Disease�.

In the three years as a PhD student in the lab I have undertaken a few projects aiming to better understand the genetics of susceptibility of inflammatory diseases, in particular ankylosing spondylitis and multiple sclerosis. I have been very lucky to work in a research group with access to large cohorts, cutting-edge technology and a talented team; which makes my work exciting and keeps me motivated. I have also been very lucky to be well rewarded for my work in the group. Last year I was the recipient of the UQDI Jian Zhou Travel Award which funded me to attend two international conferences and two short visits to collaborators in Europe. The first conference that I attended was the 8th International Congress on Spondyloarthropathies

At the moment I am making the best of my time to finish projects and convert them into publications and a soon-to-be PhD thesis. After completion I would like to continue in the field of genomics and immunology, and in particular immune mediated diseases. It is indeed an interesting time to be in this field with technologies rapidly evolving, enabling us biological read-outs which were unattainable just a few years ago but which require a huge amount of data generation, data cleanup and data analysis. Therefore, I feel my background in maths and statistics are well put into practise and for what I think is a good cause - and an intriguing and interesting one.

While in Europe, I visited the Wellcome Trust Sanger Institute in Cambridge, UK, one of the major research hubs for human genetics and the Medical Centre in Utrecht, Netherlands. In both visits I strengthened collaborations with groups within these institutions and started research projects which surely will result in more exciting outcomes in the near future.

Conferences and Awards: GeneMappers 2012, Port Douglas, QLD > Winner of the best student oral presentation 8th International Congress on Spondyloarthropathies, Gent, Belgium > Winner of the best student science oral presentation 2012 Annual Meeting of the American Society of Human Genetics, San Francisco, USA > Oral presentation UQDI Jian Zhou Student Travel Award Graduate School International Travel Award 28

Alumni: Dr Tanya Pike After completing my PhD from The University of Queensland Diamantina Institute (UQDI) in 2011 in Associate Professor Brian Gabrielli’s lab, I was awarded a Cancer Research UK Postdoctoral Research Fellowship. The Fellowship was an amazing opportunity to continue pursuing my research interest into the processes by which cells divide and how dysregulation of these signalling pathways may contribute to tumourigenesis. I took up a position in Professor Peter Parker’s laboratory at the London Research Institute (LRI) and have made London my home since June 2011. While a student at UQDI, I had the brilliant opportunity to travel to the UK and US to visit labs to present my PhD work and to find a postdoctoral position as well as attending the American Society for Cell Biology annual conference in San Diego, thanks to a UQDI travel award and Cancer Council Queensland student travel grant. Upon visiting the LRI and Professor Parker’s lab I was instantly impressed by the facilities available at the institute and the first-class research that was going on and so of course, I was extremely excited to be offered a fellowship to do my postdoctoral work there.

cytokinesis, the final stage of cell division where the two resulting cells are finally separated from one another. Through manipulating this signalling pathway, we’ve been able to demonstrate that perturbations early in mitosis leads to DNA becoming trapped between the two daughter cells. This engages PKC signalling, halting the separation of the two cells until the DNA bridge has been resolved. I’m now starting to put these research findings together as a paper to submit for publication in the Summer. Since moving to London, I’ve also been able to balance my work with travelling through Europe during holidays and weekends and have ticked a few notable places off my bucket list, such as seeing the Northern Lights in Iceland, visiting Red Square in Moscow and island hopping in Greece. There are still quite a few things on the list to do while I’m here though, so I hope to find the time to achieve this outside of my work. My doctoral work at the UQDI put me in good stead for a move to an internationally renowned lab and am very grateful for the opportunities and experience afforded me during my time at UQDI.

Since arriving here, all of my expectations have been exceeded. London, and indeed the LRI, is a hub for science. I still am in awe when I see the Nobel Laureates Sir Paul Nurse or Sir Tim Hunt in the halls or canteen! I have been working on the role of one of the Protein Kinase C family of kinases in exit from

“Since arriving here (London Research Institute), all of my expectations have been exceeded. London, and indeed the LRI, is a hub for science. I’m still in awe when I see the Nobel Laureates Sir Paul Nurse or Sir Tim Hunt in the halls of the canteen...”


Training the next generation of scientists:SPARQ-ed By Dr Peter Darben, SPARQ-ed Co-ordinator 2012 was the fourth year of operation for Students Performing Advanced Research Queensland (SPARQ-ed), UQDI’s innovative educational outreach facility. Since commencing in 2009, following a proposal to the Queensland Government by Professor Ian Frazer, SPARQ-ed has seen more than 3300 students and teachers participate in its unique research programs and workshops. SPARQ-ed is the result of a partnership between UQDI and Queensland’s Department of Education, Training and Employment (DETE). Its aim is to engage school students and teachers with the scientific community by putting them in touch with members of UQDI’s world ranked research team. All of SPARQ-ed’s services are developed by the SPARQ-ed Coordinator (Dr Peter Darben, an experienced science teacher employed by DETE) in conjunction with UQDI’s research groups. At the core of SPARQ-ed’s offerings is the research immersion program, a five-day intensive science experience for senior school students and their teachers based around a project based on the work done by UQDI’s research groups. These projects are designed to provide a result which could potentially contribute to the work done by the contributing research group. The programs are conducted in a dedicated teaching laboratory stocked with all of the equipment necessary to run a modern cell and molecular biology facility, on the grounds of the Princess Alexandra Hospital. UQDI research and higher degree students act as tutors in these programs, ensuring that participants interact with enthusiastic young scientists at the start of their research career. SPARQ-ed also runs a family homestay service through the International School at Kelvin Grove State College which allows students from outside the southeast corner to participate in these unique programs. 2012 saw a steady growth in students and teachers passing through SPARQ-ed’s diversified suite of research programs and workshops. Six research immersion programs were conducted for 72 students from across Queensland, based on research projects investigating potential new drug targets for melanoma, the mechanisms for metastasis in prostate cancer, and new biomarkers for reactive arthritis. In 2012, SPARQ-ed successfully implemented its Bonus Rank program, with five year 12 students receiving a point under UQ’s bonus rank scheme, and a further 16 year 11 students completing the additional component to earn them the point for 2013.


Demand for the shorter cell and molecular biology senior workshops continued to grow, with 18 workshops conducted for 473 students. Some of these workshops have been modified to allow them to be completed in secondary school science laboratories, which is an attractive option for schools who find it difficult to arrange excursions. The upper primary and junior secondary school workshops continue to be the overwhelming success story of SPARQ-ed, with 829 students attending 25 workshops throughout 2012. These primary school workshops cover a range of engaging topics, including DNA, forensics, microscopy and microbiology, and fill the need for high quality science activities for younger students. SPARQ-ed also extended its range of outreach activities, providing scientific staff as guest speakers at school careers days, and guest judges at science fairs. UQDI staff and students staffed a SPARQ-ed stand in the Queen Street Mall at the launch of National Science Week where members of the public could view cancer cells in culture and extract DNA from a strawberry. SPARQ-ed also had a tent at the PA Research Foundation’s annual Duck Race where people could take part in a forensic investigation. Following a presentation at UQDI’s annual Research Partners’ Lunch, SPARQ-ed was fortunate to receive a commitment of funding from the Lions Medical research Foundation for $20,000 per year for five years. This new relationship with the LMRF has allowed SPARQ-ed to reach a wide variety of school communities throughout the state, via presentations at the Lions’ 2012 QI Convention and at local Lions club meetings. It is hoped that the extra funding will allow SPARQ-ed to strengthen its links to schools in rural and remote Queensland. At the end of 2012, SPARQ-ed will move into its new home – a purpose built teaching laboratory and online learning facility on the ground floor of the Translational Research Institute (TRI). The new laboratory will have increased capacity for 24 students and will put the work of SPARQ-ed on public display. In addition, moving into TRI will allow SPARQ-ed to take advantage of the new facilities and diverse research community that TRI will provide. 2013 looks like it will be SPARQ-ed’s most exciting year to date.

SPARQ-ed alumnus experience: Shalisa Maisrikrod I have always had a strong curiosity for the world around me, and fortunately science has unfailingly held the answers behind it. So when the opportunity came last year for me to further develop my interest in science through the SPARQ-ed Research Immersion Program, I was beyond excited to participate. Organised as part of Pimlico State High School’s Year 11 Work Experience through the Science Department, I and fourteen other interested students from my cohort travelled down from Townsville to Brisbane, eager for a first-hand look at biomedical science and a glimpse into life as a research scientist – an opportunity which would have been impossible for us to find in Townsville. Under the wonderful tutelage of Dr Peter Darben, my group participated in Project 13D – one of the multiple stages of the investigative program into melanoma cell proliferation and Chk2 inhibition, set up by Associate Professor Brian Gabrielli and Dr Kelly Brooks, both of whom we had the privilege of meeting. The aim of our particular project was to confirm the results of the previous project as well as to determine whether the ATM inhibitor was effective in lowering pChk2 levels. Prior to my week at the University of Queensland’s Diamantina Institute, I completed a literary review on our project and it really made me realise the depth of knowledge made available by modern scientific breakthroughs. The understanding I gained on the topic from reading enabled me to then fully appreciate the project as it was being performed. Although my group did receive some promising results, overall, our investigation was inconclusive. However, I wasn’t deterred one bit as the knowledge I accumulated throughout the week was, and remains, invaluable. In one word, the SPARQ-ed program was amazing. During those five days, my classmates and I asked much and learnt more. The SPARQ-ed program exposed me to many new facets of science and career paths I had never previously considered. Before I had known about SPARQ-ed, I hadn’t even heard of the Diamantina Institute, been to the Princess Alexandra Hospital, let alone fathomed that they could both work in association with the University of Queensland. Neither

had I seen a micropipette or known that ultracentrifuges existed. By the end of the week however, my friends and I had been given a tour of the UQ Diamantina Institute, introduced to the PACE Health Sciences Library, had familiarised ourselves with the laboratory, were putting on our gloves, glasses and lab coats like clockwork, and were using the variously coloured micropipettes with relative ease. For me, the SPARQ-ed experience went beyond the four walls of the laboratory as, during the course of the week I stayed in Brisbane, I was also treated to a taste of fast-paced city-living, independence and responsibility. So not only was I able to work in a real-life, fully equipped laboratory, but I was also pulled from my usual comfort zone of home. All of these new experiences occurring in a different city but with old friends made my week at SPARQ-ed truly memorable. I know I’m speaking on behalf of my fourteen other classmates when I say that the SPARQ-ed program has granted us with an incomparable experience. Whether all or none of us choose to pursue a career in the field of biomedicine or science in general, the skills and techniques of learning we developed over those five days will stay with us in whatever we choose to do. Personally, science and mathematics have always been my interests, but SPARQ-ed has really opened my eyes to the world of opportunities science has to offer. Furthermore, this program has definitely sparked my ambition to pursue a career in which I can unlock the mysteries of life through science and math. Currently, the mechanics behind the human body, and especially that of the brain, or neuroscience, intrigue me the most and I hope to continue with that line of interest in my tertiary studies. Science is a part of our everyday lives – whether people realise it or not – and that is what drives my interest of science. The SPARQ-ed program reinforced that idea, increasing my interest in the area of biomedicine and providing me with a unique experience, as well as bringing me that one step closer to my dream career. It truly was a privilege to be a part of it.


Autoimmunity Research


Dr Antje Blumenthal. Research Group: Marcela Gatica-Andrades PhD Student, Kelly Hitchens Visiting PhD Student, Thi Khan Tam Nguyen Research Assistant, Tom Schultz Undergraduate Student, Kong Soon Yow Visiting Scientist, Alan Yu PhD Student

Infectious diseases remain a major threat to public health worldwide and cause severe morbidity and mortality.

Dr Antje Blumenthal Bacterial infections are an important clinical problem despite our extensive arsenal of antibiotics. This is exemplified by lengthy treatment of chronic infections (e.g. tuberculosis; 6-9 months treatment for drug-sensitive tuberculosis), high mortality due to impaired immune control and extensive inflammation (e.g. severe sepsis), and an alarming increase in antibiotic resistance. Effective vaccines, novel drugs and improved treatment approaches for challenging infections are needed. Achieving these goals entails detailed understanding of how pathogens interact with the host and immune determinants that control infections.

Key findings: Dr Blumenthal’s team focuses on how the immune system identifies, responds to and controls bacterial pathogens. Her particular interest lies in the identification of immune mechanisms that help control tuberculosis bacteria. Tuberculosis currently kills 1.4 million people every year and the emergence of drug resistant strains is a major public health concern in developing and developed countries. The host metabolic pathway that breaks down the amino acid tryptophan during inflammation is an important immune-regulatory mechanism to protect the host tissue from damage. This pathway is highly active in tuberculosis patients and models of tuberculosis, and it had been hypothesised that the bacterium exploits this to evade effective elimination by the host. Dr Blumenthal’s work was the first to experimentally address this widely accepted hypothesis and demonstrated that the tryptophan consumption pathway is dispensable for controlling tuberculosis in a model system. Activation of this pathway is more likely to be indicative of diseases severity and this might be utilised as a prognostic marker in the future.

If they can understand how microbes make us sick and which immune responses are required to combat infection, they can hopefully develop successful vaccines and treatments for diseases that we are still battling. We live in times of increased international mobility where infectious diseases pose global challenges and are not necessarily restricted by geographical borders.

Current research activities: Innate immune recognition of pathogens > Dr Blumenthal’s team are investigating how immune cells recognise Mycobacterium tuberculosis, the bacterium that causes tuberculosis, and initiate these immune responses to control the infection. Their interest is focused on how pathogen sensors on the surface of immune cells signal presence of the bacterium to the host and how this is translated into alert mechanisms that communicate the infection to other immune cells. Regulators of inflammation > Many of the immune mechanisms that help control pathogens can also be harmful to the surrounding tissue. Therefore, tight control mechanisms are needed to prevent tissue damage and chronic inflammation. They are studying mechanisms that balance effective immune control of pathogens and inflammation. This research will improve our understanding of the general mechanisms underlying immune responses and might inform novel strategies to manage severe infections and chronic diseases. Identification of novel antimicrobials > The emergence of Mycobacterium tuberculosis strains that are resistant to current drugs has added additional concerns about this global health problem. The group are searching for novel antimicrobials that might have the potential to become new drugs in the global battle against tuberculosis.


Professor Matthew Brown. Research Group: Gethin Thomas Deputy Director Education and Senior Research Fellow, Emma Duncan Adjunct Associate Professor, Brooke Gardiner Senior Research Officer, Paul Leo Senior Bioinformatician, Mhairi Marshall Bioinformatician (Comp Focus), Tony Kenna Research Fellow, Aideen McInerney-Leo Clinical Genetics Coordinator, Linda Bradbury Research Nurse, Janelle McFarlane Research Nurse, Kelly Hollis Research Nurse, Katie Cremin Research Assistant, Jessica Harris Research Assistant, Eugene Lau Research Assistant, Poh-Lynn Low Research Assistant, Sharon Song Research Assistant, Lawrie Wheeler Research Assistant, Lisa Anderson Research Assistant, Patricia Keith Research Assistant, Andreas Zankl Affiliate Associate Professor, Kim Gardner Administrative Officer, Adrian Cortes PhD Student, Mary-Ellen Costello PhD Student, Philip Robinson PhD Student, Lucia Tseng PhD Student, Katelin Haynes PhD Student, Betoul Baz PhD Student, Stella Wu Visiting Academic, He Ji Occupational Trainee, Stephanie Johnson Visiting PhD Student, Kaitlin Kornizak Visiting Undergraduate Student, Murray Hargrave Casual Science Writer, Andreas Haaland Occupational Trainee, Yu Liu Visiting Academic

As a medical practitioner I do my best to improve the lives of the patients that I see in my clinic; as a researcher I do my best to improve the lives of patients throughout the world.

Professor Matthew Brown The group published over 30 papers in 2012, including first or senior author papers in the leading genetics journals Nature Genetics and American Journal of Human Genetics, reporting breakthrough discoveries in osteoporosis, gene-mapping methodology and monogenic skeletal dysplasias, and ankylosing spondylitis.

Current research activities:

The team researches the genetic causes of primarily bone and joint diseases, both common and rare. Their aim is to determine the basic causes of these diseases by identifying the genes responsible. They have an extensive program that then investigates the functional impact of those genetic findings, with the goal of identifying potential therapeutic targets for the diseases involved. Genetics is also a powerful method for diagnosing disease and for determining the later risk of developing disease; our group is working on new methods for genetic diagnosis both in utero and in later life.

> Investigating the mechanisms by which prostaglandins influence inflammation and bone formation in ankylosing spondylitis

Key findings:

> Identifying new genetic variants, both common and rare, involved in osteoporosis

Professor Brown and his colleagues have more than doubled the number of genes known to cause the disease osteoporosis. Osteoporosis is a common and major problem in the Australian community. 44% of women, and 25% of men aged ≥60 years will have an osteoporotic fracture, and costs are estimated to be >$AUD7 billion annually. Their genetic findings greatly increase understanding of the causes of the disease and the potential for genetic diagnostic tests. They developed new ways of identifying genetic mutations causing rare human diseases using new DNA sequencing methodology, and identified several new mutations causing known, severe, human skeletal disorders. These findings open up the chance of informed therapy development for these conditions, and allow the families affected to have antenatal screening for the diseases involved. Approximately 1% of Australians are affected by such diseases, and thus these findings are relevant to large numbers of people.

Dr Gethin Thomas > Determining the mechanism by which inflammation in ankylosing spondylitis causes new bone formation and joint fusion

> Investigating the mechanism by which chromosomal regions lying between genes (‘gene deserts’) influence the risk of developing ankylosing spondylitis Dr Tony Kenna > Investigating the role of IL-23 responsive cells in the patho-genesis of ankylosing spondylitis Associate Professor Emma Duncan

> Mapping new genes causing skeletal dysplasias Dr Paul Leo > Investigating the mutations that cause acute myeloid leukaemia > Developing improved statistical approaches for next-generation sequencing to facilitate investigation of common and rare human diseases Professor Matthew Brown > Investigating the interaction between the host intestinal mucosal immune system and the bacterial flora present in the gut in causing ankylosing spondylitis > Identifying genes involved in common diseases including • Immune mediated diseases such as ankylosing spondylitis, rheumatoid arthritis, and scleroderma • Infectious diseases such as cervical cancer and tuberculosis • Neurological diseases including motor neurone disease and multiple sclerosis


> Developing therapies targeting pathways known to be involved in ankylosing spondylitis through genetic studies


Dr Emma Hamilton-Williams. Research Group: Badrosadat Fallahahmadi Masters Student, Cini James Research Assistant, Mari Nakao Undergraduate Student

I am driven both by the quest for scientific discovery and the knowledge that sick children have their hopes pinned on researchers finding better treatments to help them.

Dr Emma Hamilton-Williams In Australia, more than two people are newly diagnosed with type 1 diabetes every day, and the rate is increasing by almost 3% each year. Long-term side effects such as kidney failure and blindness are serious and life shortening. Children diagnosed with type 1 diabetes are still looking for a genuine cure. Type 1 diabetes is caused by the immune cells of our body attacking the insulin-producing cells in the pancreas instead of their usual job of fighting infections. Research in type 1 diabetes has recently been advanced by the discovery of 30+ regions within our DNA linked an increased risk of developing disease. However, for most of these regions, it isn’t known exactly which gene is causing the effect or what changes it is making to the immune cells that attack the pancreas. Moreover, our environment (eg. diet and exposure to childhood infections) also seems to influence whether or not type 1 diabetes develops.

Current research activities: Project 1 > The role of interleukin-2 in type 1 diabetes. Following on from the team’s discovery of a role for interleukin-2 in dendritic cells, they are analysing the functional and developmental effects of dendritic cell produced interleukin-2 on the autoreactive immune system. They are conducting a human study to determine whether changes in the interleukin-2 gene linked to type 1 diabetes susceptibility alter expression in dendritic cells. Project 2

The team’s research aims to study some of the gene regions linked to type 1 diabetes and in order to understand how they are changing the immune system. They are also investigating how our genetic background interacts with environmental factors that may trigger disease.

> Interaction between the gut microbiome and genetic susceptibility to type 1 diabetes. Bacteria residing in the gut have an important role in the normal development of the immune system. The group are investigating whether genes linked to diabetes risk alter the gut environment or immune response and change the bacterial species living in the intestine.

Key findings:

Project 3

The team’s research has recently advanced our understanding of how the immune cytokine interleukin-2 contributes to type 1 diabetes development. They have found that an abnormal reduction in the production of interleukin-2 by dendritic cells as well as T cells is involved in the loss T cell tolerance to the pancreas and and the subsequent development of diabetes. Previously, it was believed that the role of interleukin-2 was for T cell function. This finding highlights a novel role for the cytokine in dendritic cells, which are ‘master regulators’ of the immune response. The discovery is important as interleukin-2 treatment is being tested in clinical trials, yet serious side effects result if the doses are too high. This may help us to better design a targeted delivery system for interleukin-2 to the key cells where it is required.

> Genetic control of T cell development in type 1 diabetes. T cells are the cells responsible for the organ damage resulting in type 1 diabetes. This project aims to better understand how disease-risk genes lead to the production of autoreactive cells during development or the impairment of protective regulatory cells.


Dr Tony Kenna. Research Group: Patricia Keith Research Assistant, Mary-Ellen Costello PhD Student, Philip Robinson PhD Student, Max Lau Undergraduate Trainee

In order to effectively treat autoinflammatory diseases such as ankylosing spondylitis, psoriasis and inflammatory bowel disease, we need to understand how the body and the disease combine to produce the symptoms that cause people pain and hardship. Medical and scientific research of the highest calibre is the only way to achieve this aim and I am honoured to be able to write ‘scientist’ in the box pertaining to my occupation.

Dr Tony Kenna Dr Tony Kenna is a leader in the field of immune dysregulation in autoimmune and autoinflammatory disorders. By combining information from genetic studies, clinical patients and detailed laboratory models he is unravelling the steps involved in the triggering and progression of these diseases.

Current research activities:

Our immune system has evolved to protect us from infections and tumours. However, in autoimmunity the immune system attacks the patients’ own healthy tissues. Autoinflammatory diseases are a newly described category of autoimmune diseases.

Ankylosing spondylitis is an inflammatory joint disease, affecting mainly the spine and pelvis. Ankylosing spondylitis results in fusion of these joints causing severe disability and pain. The group is learning more and more about this disease as they investigate the contributions that a number of factors make to this overall disorder.

Autoinflammatory diseases, including ankylosing spondylitis, psoriasis, and inflammatory bowel disease, affect over 3% of the global population. While we can diagnose, and in some cases treat some of the symptoms of these diseases, we do not know the underlying causes. Most of the treatments for these conditions work at a symptomatic level and can provide some relief but no cures are available. Current treatments also leave patients severely immune compromised and susceptible to infection. Faulty immune responses are at the core of these diseases. Dr Kenna’s research aims to understandresearch dysregulated immune responses in autoinflammatory diseases and, from that informed starting point, design treatments to attack the root cause of these common and debilitating conditions.


The current projects within the Kenna group revolve around the understanding of one of the autoinflammatory disorders, ankylosing spondylitis.

> The team investigates the actions of a number of immune system genes that have been shown to be involved in this disease in large genetic studies. Knowing the gene involved and knowing how it is involved are two vastly different areas > The team seeks to determine the role played by specific faulty immune cell populations > The team explores how alterations to the immune system of the gut may be ultimately responsible for inflammation in the joints of the spine and pelvis

Associate Professor Ray Steptoe. Research Group: Miranda Coleman PhD Scholar, Jane Al-Kouba PhD Scholar, Ritchie Hughes Masters Student, Robert Ling Honours Student, Tahra Camidge Research Assistant

Research provides the impetus underlying improved patient care. This is achieved through a combination of strong basic science and appropriate translational studies.

Associate Professor Ray Steptoe More than 10% of Australians live with autoimmune and inflammatory diseases that result from dysregulated T-cell responses. Current treatments for autoimmune and inflammatory diseases provide only symptomatic relief. Immune therapies, however, have the potential to reverse destructive immune responses underlying these diseases and offer the prospect of a ‘cure’.

Key findings: Autoimmune and other T-cell mediated inflammatory diseases result when immune ‘tolerance’ mechanisms fail. In general they are diagnosed only after onset of clinical symptoms when the immune system has already established an aberrant destructive response and tissue damage has occurred. Current treatments provide only symptomatic relief and no ‘curative’ therapies are available. As these diseases extract a profound personal, social and economic toll there is an urgent need to develop effective curative therapies. Immune ‘tolerance’ normally prevents the immune system from mounting aberrant or pathogenic responses to normal body components, therefore, a therapeutic that acts on the immune system (immunotherapy) to restore immune tolerance has the potential to ‘cure’ disease rather than merely alleviate symptoms and would fill this therapeutic need. Tissue destruction associated with autoimmune diseases is caused by effector and memory T-cells. Therefore, to be successful, immunotherapy must purge, silence or regulate these cells in a way that is specific to the molecular triggers, or ‘antigens’, unique to each autoimmune disease. It was long believed that effector and memory T-cell responses were resistant to tolerance induction. However, their research has recently identified a method to ‘switch-off’ these unwanted T-cell responses. This opens up a new therapeutic approach, which they term ‘tolerogenic HPC therapy’, as a potential treatment of established autoimmune and T-cell mediated inflammatory disease. The overall goals of Associate Professor Steptoe’s research are to identify key mechanisms of tolerance;

to determine which cells, particularly which antigen-presenting cells, are important for ‘enforcing’ tolerance within the immune system; and to understand how this knowledge can be exploited for the development of new immunotherapies.

Current research activities: Cellular and molecular pathways of T-cell tolerance > Autoimmunity and allergies develop when normal mechanisms restraining the immune system fail. Retraining the immune system through induction of T-cell tolerance is an attractive therapeutic. Molecular, biochemical and cellular approaches are used in the group’s established models to define the pathways and interactions underlying induction and maintenance of T-cell tolerance. Prevention and reversal of autoimmune diabetes > The team has previously shown that autoimmune (type 1) diabetes can be prevented by expression of key disease targets in dendritic cells. Using a range of models, the group is conducting proof-of-principle studies that establish whether diabetes-causing immune responses can be terminated. Reversing established allergies and allergic airway inflammation > Allergies affect up to 20% of Australians and are a chief cause of asthma. The group is testing new ways to turn-off allergic immune responses that we expect will limit allergen-induced allergic respiratory disease. Novel methods of gene delivery for tolerance > Currently available methods limit the potential for clinical application of antigen-specific immunotherapeutic gene-therapy. The team is seeking ways to develop vaccine-like approaches to facilitate gene-therapeutic induction of tolerance for application to autoimmune and inflammatory diseases.


Dr Gethin Thomas. Research Group: Katelin Haynes PhD Student, Hsu-Wen Tseng PhD Student, Stuart Davidson PhD Student, Poh-Lynn Low Research Assistant, Karena Pryce Research Assistant

Musculoskeletal diseases cause more disability and pain and suffering than any other disease category including cancer. By developing new diagnostic tests and novel therapeutic approaches we can help reduce the huge burden of these diseases.

Dr Gethin Thomas The 2012 Global Burden of Diseases Report identified that musculoskeletal conditions, including arthritis and osteoporosis, account for 15.3% of the total burden of death and disability, just behind cancer and ahead of heart disease, mental health and substance abuse. Dr Thomas’ research focuses on developing new diagnostic tests and potential cures for diseases that affect the bones and joints (musculoskeletal diseases). The group’s research into joint disease (arthritis) focuses on ankylosing spondylitis (AS) which is a form of arthritis that specifically targets the spine and pelvis of up to 80,000 Australians, displaying uncontrolled excessive bone formation which can result in complete joint fusion (ankylosis). No therapies are currently available that prevent or even slow this inevitable progression that results in significant disability. They are currently investigating the changes that occur during this disease in order to identify new therapeutic approaches or better target currently available options. Osteoporosis is a disease characterised by low bone mass and increased risk of fracture. Half of women aged 50 years or older will suffer at least one osteoporotic fracture. Already over 2 million Australians have osteoporosis; this will become 3 million by 2021. Most current osteoporosis therapies only prevent further bone loss but in many cases the lost bone needs replacing using bone-building or “anabolic” drugs. The Thomas group has identified a novel gene in bone with anabolic properties and characterising this gene may reveal novel therapeutic approaches.

Key findings: Since his PhD studies, Dr Thomas has studied the biology of the skeleton, specifically the process of bone formation and the cells controlling that process, the osteoblasts. His interests focus on the characterisation of novel genes involved in bone disease, in particular ankylosing spondylitis and osteoporosis. His group utilises a combination of genome-wide association studies (GWAS), whole-genome expression profiling and large-scale mouse mutagenesis approaches to identify new genes involved in skeletal disease. 38

Previously, Dr Thomas has lead projects characterising novel bone genes which resulted in the identification and characterisation of two novel bone genes, Ostn and Bril, with Ostn being patented and targeted for drug development. More recently, he has focused on elucidation of the molecular mechanisms underlying the progression of ankylosing spondylitis to try to identify new targets for therapeutic development. The group has demonstrated that key regulators of osteoblasts are dysregulated in their mouse models of ankylosing spondylitis and they are investigating ways of modulating their function to reduce the excessive bone formation that is so debilitating in ankylosing spondylitis.

Current research activities: Understanding the inflammation-bone formation interface > The major long-term problem for patients with ankylosing spondylitis is joint fusion causing extreme disability. The goal of these studies is to understand how the arthritis leads to new bone formation, and to develop therapies to prevent this. They have established a number of mouse models of ankylosing spondylitis in their lab that closely mimic the human disease’s progression. Their studies to date have identified several pathways that they are currently targeting. Transcriptional and genetic profiling of ankylosing spondylitis > The Thomas group will combine genetic and gene activity (gene expression data) in an “eQTL” approach for the first time in AS. Novel genes identified from these approaches can form the basis for new treatments and diagnostics. Characterising the function of a novel bone protein, Bril, in order to develop new therapies for osteoporosis > Identification of novel genes specific to bone provides a direct route to highlight previously unknown regulatory pathways suitable for drug targeting. They identified a bone-specific membrane protein: Bone restricted Ifitm-like, Bril. Bril is completely novel and identifying its mechanism of action will highlight new therapeutic options.

Professor Ranjeny Thomas. Research Group: Annie (Xiaoyu) An PhD Student, Brendan O`Sullivan Senior Research Officer, Alexandre Ghenassia Occupational Trainee, Dimeng Pang PhD Student, Srividya Katikireddi Clinical Research Fellow, Farshad Ghazanfari Clinical Research Fellow, Thiagarajan Sairam Visiting Qld-India Fellow, Emily Duggan Research Assistant, Helen Pahau Research Nurse and MPhil Student, Jared Velasco Research Assistant, Saion Chatterjee Summer Student, Karen Herd Lab Manager and Research Assistant, Soi Law Honours Student, Merja Ruutu Research Officer, Helen Benham PhD Student, Dr Ray Steptoe Senior Research Fellow, Roland Ruscher PhD Student, Katherine Irvine Research Officer, Hanno Nel Research Officer, Linda Rehaume Research Officer, Shayna Street Research Officer, Suman Yekollu Research Assistant

As a clinician, the suffering of patients with autoimmune disease drives me to apply my knowledge towards better treatments through research approaches, which will one day make it back to the clinic.

Professor Ranjeny Thomas Autoimmune diseases such as rheumatoid arthritis and childhood diabetes affect 8 in every 100 Australians, causing pain, reduced work or school productivity and reduced lifespan.

Current research activities:

Autoimmune diseases such as type 1 diabetes and rheumatoid arthritis occur in people with a genetic background that puts them at risk, combined with specific environmental triggers that set off an inflammatory reaction. Professor Thomas’ research aims to understand essential inflammatory pathways in patients and animals with autoimmune disease that will identify markers of disease risk and immune system targets for treatment.

> Professor Thomas and her team are developing a liposome nanoparticles containing an antigen and a natural inhibitor known as curcumin (from the spice turmeric) towards clinical trials in RA. Before manufacture of the product for trials, they are optimising all components of the nanoparticles. In rheumatoid arthritis patients, they identified T lymphocytes specific for citrullinated autoantigens in blood. These are the cells to be targeted with the vaccine.

Key findings: Professor Thomas’ research focuses on autoimmune diseases including rheumatoid arthritis and type 1 diabetes. The group found a blood signature at onset of diabetes that predicts clinical outcome, which may be useful to stratify patients for clinical trials. They also discovered a new mouse model for spondyloarthritis – a constellation of inflammatory diseases arising in joints and tendons, spine, bowel, skin and eyes. The group is developing a novel vaccine strategy for antigen-specific treatment of rheumatoid arthritis.

Rheumatoid arthritis vaccine

Type 1 (childhood) diabetes > When studying children with recent-onset, insulin-controlled type 1 diabetes, the group identified a unique blood monocyte stress signature that may predict a less favour able prognosis in patients recently diagnosed with childhood type 1 diabetes. The found a similar signature in many of the siblings of these patients, suggesting a common problem with the cellular response to stress in these families. Ankylosing spondylitis, Psoriatic arthritis, Crohn’s disease > Spondyloarthropathies are thought to be triggered by infection or interaction of the predisposed immune system with colonising or “commensal” bacteria. The group found that mice, known as SKG, develop inflammatory disease of joints, spine, tendons, small intestine, skin and eyes when injected with beta-glucan, a component of fungal and bacterial cell walls. The arthritis is dependent on an inflammatory mediator called interleukin-23. Interleukin-23 is expressed in the gut soon after injection of beta-glucan, and gut bacteria must be present for disease to occur.


Professor Peter Visscher. Research Group: Jian Yang Research Fellow, Allan McRae Research Fellow, Gibran Hemani Postdoctoral Statistical Geneticist, Joseph Powell Research Officer, Konstantin Shakhbazov Research Officer, Anita Goldinger PhD Student

I passionately believe that performing fundamental ‘basic’ research to better understand genetic variation for complex traits in human populations will generate knowledge that can be used in precision medicine.

Professor Peter Visscher Understanding genetic variation for risk to disease in human populations The Visscher group specialises in quantitative and statistical genetics, population genetics, human genetics and bioinformatics, with the ultimate aim of trying to understand the genetic basis of differences in risk of disease and other phenotypes between individuals. In their research, they use theoretical derivations, simulation studies, development of new analytical methods and software tools, as well as the application of advanced statistical analysis methods to analyse genetic and phenotypic data.

Current research activities: In 2012, the Visscher group continued to use innovative statistical methods to show that complex traits in human populations — including common diseases such as psychiatric disorders, auto-immune diseases and complex traits such as height and body-mass-index — are caused by the cumulative effect of hundreds of genes. They have contributed analysis expertise to a large number of international research consortia that have found genes affecting endometriosis, schizophrenia, asthma, circulating lipid levels, rheumatoid arthritis and stature. The Visscher lab continues to lead the analysis efforts of a number of international research consortia. They have developed widely used statistical methods and software to estimate the effects of genes, chromosomes and the whole genome on disease susceptibility. Their software packages are heavily used by researchers worldwide.


In collaboration with researchers from the Queensland Institute of Medical Research, Professor Visscher leads the Brisbane Systems Genetics Study, which aims to understand genetic variation in gene expression and its correlation with individual differences in disease. In a flagship collaboration between UQDI, QBI and China, a project led by Professor Matt Brown and the Visscher group has begun to discover genes and pathways affecting motor neuron disease. Dr Jian Yang from the Visscher group won the 2012 The Centenary Lawrence Creative Prize. This prize is awarded to an early-career medical research scientist who has displayed outstanding originality and whose thinking has made a significant change in their field. Visscher and colleagues were also shortlisted for the 2012 Eureka prize in the category ‘Scientific Research’. Dr Jian Yang, Professor Peter Visscher and many colleagues around the world reported in Nature that a gene variant in the gene FTO is associated with variability of body-mass-index in groups of people. Yang and Visscher also had a separate report in Nature about genetic effects on cognitive ageing, which may lead to new insights in diseases such as dementia. Editorial Boards American Journal of Human Genetics (Editorial Board Member) Genome Medicine (Editorial Board) PLoS Genetics (Associate Editor) Scientific Reports (Associate Editor)


Cancer Research


Dr Liliana Endo-Munoz. Research Group: Andrew Cumming Research Assistant, Nicholas Saunders Principal Research Fellow, Eleni Topkas PhD Student

A prolific author once wrote that “service becomes the connecting link which binds us to our fellow men.� I believe that research is not just about the challenge and excitement of discovery, but another link that connects us to others in service by turning our scientific discoveries into better treatments.

Dr Liliana Endo-Munoz Every year, thousands of children and teenagers around the world die unnecessarily due to bone cancer complications. Osteosarcoma (OS) is the most common malignant bone tumour in children and adolescents. The major complication of OS is spread (metastasis) of the tumour from the bone to the lungs. Little is known about the mechanisms that regulate OS metastasis and therefore, there is currently no treatment. Patients with lung metastasis do not respond to current chemotherapy and have a very poor chance of long-term survival. Moreover, the current treatments have remained largely unchanged for the past 30 years. Attempts at addition of new chemotherapy drugs have been limited by their toxicity and severe side-effects. It is clear, therefore, that alternative targeted treatments with novel therapeutics are desperately needed to improve the survival of OS patients. In order to do so we must understand the metastatic process that operates in OS, identify new molecules that drive the process of metastasis in OS, and find new therapies to prevent lung metastasis in OS patients.

Key findings: Dr. Endo-Munoz and her team were the first to show that the osteoclast, a normal bone cell involved in bone recycling, plays a major role in regulating OS metastasis. They were the first to propose the osteoclast as a novel therapeutic target and show that it could be modulated to reduce metastasis in an animal model of OS. Now, the team has identified three molecules that are involved in driving OS metastasis to the lungs, and has found inhibitors of these molecules that are currently in clinical use for other diseases, and therefore safe to use in patients. Mouse experiments with these inhibitors have resulted in a dramatically significant reduction of OS lung metastasis. Trials of the inhibitors in a veterinary setting are due to start in 2013 for the treatment of canine OS. Significantly, these trials may lead to new management practice for canine and human OS.

Current research activities: Validation of two novel drivers of OS metastasis > The group has recently identified two novel molecules which are associated with highly metastatic behaviour in OS. They are currently validating these as true drivers of metastasis. One of these molecules has already shown promise as a target for therapeutic intervention. Dynamic analysis of lung metastasis by highly-metastatic and poorly-metastatic circulating OS cells > The group has isolated sub-populations of OS tumour cells that exhibit very high or very poor metastatic potential. They are using these cells as tools to investigate the mechanisms that control (a) the movement of these cells from the bone to the lungs, (b) their movement and survival in circulation, and (c) their establishment in the lungs. This will provide a basic understanding of the mechanisms involved in the metastatic process and will lead to the identification of molecules and pathways involved in the regulation of OS metastasis. Exosome signaling in the OS tumour cell > Exosomes are small vesicles which carry genetic material or proteins, and which are secreted by many cells. Exosomes are involved in cell to cell communication and in some cancers they have been shown to facilitate metastasis. Dr Endo-Munoz and her team have recently isolated exosomes from OS tumour cells and are studying their role in OS metastasis.


Professor Ian Frazer Research Group: Natasha Romoff Summer Scholar, Janin Hofmann UQ Postdoctoral Research Fellow, Rohit Sinha Senior Research Assistant, Anne-Sophie Bergot Research Officer, Deepak Mittal Research Officer, Stacey Cole Lab Manager/ Senior Research Assistant, Allison Choyce Lab Manager/Senior Research Assistant, Tracy Doan Casual, Christina Gosmann PhD Student, Tran Le Son PhD Student, Nor Malia Abd Warif PhD Student, Krishan Pratap Visiting Student, Oscar Haigh Research Officer, Purnima Bhat UQ Postdoc Research Fellow, Sunny Liu Research Officer, Shanu Sinha Senior Research Assistant, Antje Blumenthal Research Fellow, Tam Nguyen Research Assistant, Alan Yu PhD Student, Marcela Gatica Andrades PhD Student, Tom Schultz Summer Scholar, James Wells Research Fellow, Madeleine Fletcher Summer Scholar, Jennifer Bridge Research Assistant, Ji-Won Jung PhD Student, Enya Chen Visiting Student, Andrew Lewandowski Visiting MBBS/MPhil Student, Nana Overgaard Occupational Trainee, Graham Leggatt Senior Lecturer/Research Fellow, Michael Nissen Visiting Student, Natasha Romoff Summer Scholar, Artie Wong Visiting PhD Student, Michelle Yong Research Assistant, Stephen Mattarollo Balzan Fellow, Heng Sheng Occupational Trainee, Takumi Kobayash Research Assistant, Rory Rearden Summer Scholar, Brianna Doff Visiting Student

Research is the only way to find new and better ways of preventing and treating the chronic diseases which can spoil the quality of life we enjoy as we get older.

Professor Ian Frazer The Frazer group is focussed on new insights into prevention of common skin cancers. Professor Frazer and his team are interested in what drives the development of skin cancers in sun damaged skin, and why people with damaged immune systems have a much greater chance of developing these cancers. They’re looking for viruses and bacteria that might encourage cancer development, and are investigating the immune responses that might prevent these lesions developing.

Key findings: The group’s work over the last year has demonstrated the importance of two new mechanisms of control of the immune system in skin infected by viruses, which enable persistence of these viruses. Inflammation induces the expression of the cytokine IL-18 which regulates activity of NKT cells, which by secreting IFN-gamma diminishes the effectiveness of Killer T cells. Inflammation also induces indoleamine dioxygenase, an enzyme which starves killer T cells of tryptophan, a necessary growth factor for these cells.

Current research activities: Using next generation sequencing in collaboration with Dr Marcel Dinger, Professor Phil Hugenholtz, and Professor Peter Soyer, Professor Ian Frazer examined skin precancer lesions for evidence of viruses and bacteria that might influence progression of these lesions to cancer. Using both a mouse model of chronic HPV disease and cervical biopsies of women with pre-cancerous cervical lesions, Christina Gosmann studied the contribution of innate immune cells and signalling pathways that induce IFN-γ to viral persistence and progression of precancerous lesions to cancer. > Dr Deepak Mittal and his student Le Son Tran demonstrated the importance of iNOS and Arginase as local regulators of inflammation in the skin expressing human papillomavirus protein. > Dr Purnima Bhat used multiphoton microscopy to show how both the time course and mechanism of killing of skin cells by killer T cells is fundamentally different from killing of many other cells. > Dr Anne-Sophie Bergot demonstrated how mast cells attracted to skin by papillomavirus proteins can regulate local immune function. > Dr Janin Hofmann studied how the variety of antigen presenting cells in skin is influenced by the expression of papillomavirus proteins in the skin. > Dr Oscar Haigh worked on delivery of siRNA to skin using nanoneedle arrays and showed silencing of a gene encoding a neutrophil chemotactic protein.


Associate Professor Brian Gabrielli. Research Group : Sandra Pavey Senior Research Officer, Alex Pinder Research Assistant, Kelly Brooks PhD Student, Mellissa Brown PhD Student, Won Jae Lee CJ Martin Fellow, KeeMing Chia Research Assistant, Loredana Spoerri Research Officer, Vanessa Oakes PhD Student, Matthew Wigan PhD Student, Fawzi Bokhari PhD Student, Carly Fox MPhil Student, Gency Gunasingh Research Assistant, Duka Skalamera Senior Research Officer, Max Ranall Senior Research Assistant, Mareike Dahmer Research Assistant

We are only just starting to understand how we can use the defects responsible for tumour formation as targets to selectively destroy the tumours.

Associate Professor Brian Gabrielli Melanoma is a disease that affects almost every family in Australia, yet there are few effective treatments available. The debilitating side effects of conventional chemotherapeutics are a direct consequence of their poor targeting, destroying normal tissue a well as cancer. Improved targeting of the cancer by targeting a defect that is specific for the cancer will improve both treatment outcomes and reduce side effects thereby improving the quality of life of the patient. The Cell Cycle Group is investigating the normal response to skin cells to environmental and other stresses, identifying the molecular basis of defects in these response mechanisms and attempting to use these defective mechanisms as selective targets to destroy melanomas. Associate Professor Gabrielli and his group have found several stress response mechanisms that are defective in melanomas and have now shown that targeting these provides the selective targeting desired to improve treatment options and reduce side effects for patients.

Current research activities: There are two themes to their research program; examining normal cell proliferative controls and how they go wrong in cancer, and targeting these defective controls to selectively destroy cancer cells with these defects. In the first theme there are two projects: defining the molecular mechanism of the cell cycle response to ultraviolet (UV) radiation; and understanding the molecular nature of the defective checkpoint signalling in melanoma. These projects examine mechanisms that contribute to regulating normal cell division in the face of environmental stresses such as UV radiation and imposed stresses such as chemotherapeutic agents. They have identified a mechanism by which skin cells recognise and respond to all of the DNA damage caused by UV exposure, and shown that this mechanism is defective in a high proportion of melanomas. The group has also found another mechanism that responds to chemotherapeutic drugs is also commonly defective in melanomas. The former defect appears to directly contribute to melanoma development, the latter may account for the resistance of melanomas to standard chemotherapeutic treatments. The second theme is based on utilising their understanding of the defects in these stress responses to develop improved targeted anticancer drugs. The team has shown that inhibiting one component of a stress response, Chk1, provide selective cytotoxicity in melanoma and identified a marker of sensitivity to this targeted therapy, a critical adjunct as it provides a means of identifying tumours most likely to be sensitive to this drug. They have also been investigating means of selectively targeting melanomas that are defective for the response to standard chemotherapeutics. They have used a novel approach to do this, knocking out one gene at a time in melanomas to identify genes that when knocked out combine with the defective chemotherapy response to selective kill cells with the defective response. This is termed a “synthetic lethality� screen and is possible due to the unique functional genomics facility that the research team has established at UQDI.


Dr Michelle Hill. Research Group: Kerry Inder Research Officer, Dorothy Loo Proteomics Specialist, Eunju Choi PhD Student, Alok Shah PhD Student, Jayde Ruelcke Honours Student, Hyeongsun Moon PhD Student, Debra Black Research Assistant, Kristine Hua Casual Research Assistant

The multi-disciplinary team is essential for translating basic research to the clinic. I am extremely fortunate to have had the opportunity to work with colleagues from other disciplines. As a team, we will make our research count and make a difference to cancer patients.

Dr Michelle Hill Cancer is a leading disease in Australia.

Current research activities:

The Hill group is working on two fronts to reduce the mortality from cancer. Early diagnosis is the most effective way to reduce cancer mortality. Using a novel pipeline developed in the group, they are working with our clinical colleagues to find markers in the blood that can be used for diagnosis or to predict therapeutic efficacy. For patients diagnosed with cancer, the group is examining new modes of therapy, which reduces cancer growth and spread by eliminating subversion of the host tissue by cancer cells.

Lipid rafts and caveolin-1 in cancer progression – oncogenic microvesicles

Key findings: Dr Hill’s research established a new paradigm in subcellular systems biology to identify altered pathways caused by cancer-promoting membrane microdomain changes. A key finding from her group is the association between altered cellular membranes and the protein content of exosomes/prostasomes (small packets) released from prostate cancer cells. Recent focus on cancer therapy has been the important role played by such exosomes in the establishment of an environment supportive for cancer growth and spread. Results from Dr Hill’s group show cancer associated proteins such as caveolin-1 and cavin-1 may change cell behaviour by interfering with the trafficking within the cell and the release of such packages to other cells. The group is planning to identify molecular targets for development of a new class of cancer therapeutics. On the blood diagnostic test front, the multi-disciplinary team has completed the technical development for the lectin magnetic bead array-coupled mass spectrometry (LeMBA-MS), and the accompanying GlycoSelect database and statistical analysis platform. Discovery phase has been completed for canine haemangiosarcoma and human oesophageal adenocarcinoma.


> Tumour-derived microvesicles/exosomes play a key role in establishing the microenvironment for tumour progression and metastasis. However, little is known on how cancer cells induce oncogenic microvesicle sorting and release. The group’s work using caveolin-1 in prostate cancer cells as a model revealed a potentially universal mechanism for oncogenic microvesicle generation, involving dysregulation of lipid rafts (cholesterol-rich membrane microdomains). Continuing work in this program seeks to decipher the microvesicle trafficking/secretion pathway affected by lipid rafts in order to identify potential therapeutic targets. Molecular diagnostics > The Hill group has developed a novel glyco-biomarker discovery platform to identify glycosylation structure differences. Customised database including statistical analysis tools have recently been completed, in collaboration with Dr David Chen (Griffith University) and Dr Kim-Anh Le Cao (Queensland Facility for Advanced Bioinformatics). The discovery screen for serum diagnostic biomarkers for canine haemangiosarcoma (in collaboration with Dr Caroline O’Leary, Dr Helle Bielefeldt-Ohmann, and Dr Rod Straw) and human oesophageal adenocarcinoma (in collaboration with Professor David Whiteman, Associate Professor Andrew Barbour) has been completed. A ranked list of candidate glycoproteins will be validated using multiple reaction monitoring (MRM) mass spectrometry. > An overlap between the two programmes is to investigate microvesicles/exosomes are potential biomarkers, in collaboration with Professor Frank Gardiner (UQCCR) and Professor Martin Lavin (QIMR).

Dr Graham Leggatt. Research Group: Michelle Yong Research Assistant, Arthur Wong PhD Student, Michael Nissen Undergraduate Student, Natasha Romoff Undergraduate Student


Understanding the interactions between the immune system and the skin environment is the key to improving immunotherapy for skin cancers.

Dr Graham Leggatt Non melanoma skin cancer is the most commonly diagnosed cancer in Australia with approximately 2% of the population treated for this cancer in 2002. Non melanoma skin cancers are very common in Queensland and a subset of these cancers are aggressive and prone to metastasis. Current treatment for the primary tumour most commonly involves surgical excision which can be disfiguring. Our aim is to improve treatment options by promoting immune attack against the developing cancer. Enhancing the immune attack generally involves the removal of suppressive cells and mechanisms that locally surround the tumour. Dr Leggatt and his group have begun to identify these suppressive circuits and how to overcome their effects.

Key findings: The Leggatt group works on immunotherapy for non-melanoma skin cancers and HPV-related epithelial cancers. In particular, we aim to enhance the function of cytotoxic T cells, a key immune cell in our defence against tumours and viruses, at skin cancer sites. They have identified key suppressive mechanisms which prevent immune attack by cytotoxic T cells during early stage cancers in the skin. In particular, natural killer T cells are attracted to precancers in the skin where they secrete IFN-g and switch off the local immune response. They are actively identifying the target cells influenced by IFN-g in the skin in an attempt to deplete or neutralise their suppressive effects. These preclinical findings provide potential target cells and molecules which need to be eliminated within the skin of cancer patients in order to restore anti-tumour immunity. In addition, they have identified methods for depleting suppressive NKT cells in the skin and demonstrated the return of an effective anti-tumour response. Other projects have focused on how lymphocytes accumulate within precancerous tissue. Using mice which transgenically express the E7 cancer forming protein of HPV, they have found

key chemical messages released from the skin, chemokines, which attract a variety of lymphocytes into the skin. If the group can identify the key chemokines which attract suppressive lymphocytes to the precancerous skin then it may be possible to block this traffic and restore the anti-tumour immune response.

Current research activities: Adoptive immunotherapy of squamous cell carcinoma after depletion of lymphocytes. > Cancers in the skin often surround themselves with immunosuppressive lymphocytes. This project attempts to reset the tumour environment by depleting the cells around the tumour and replacing them with immune cells enriched for anti-tumour activity. IFN-g induced immunosuppression within precancerous skin > The molecules which regulate the immune response in the skin are still poorly understood. This project analyses one of the chemical messengers leading to immunosuppression with a view to neutralising it’s activity and restoring the anti-tumour response. Suppressive dendritic cell subsets in precancerous skin > Dendritic cells are known to activate the immune system but can be recruited for immune silencing under some circumstances. Our study will dissect the pathways that lead to the generation of immune suppressive dendritic cells during the development of skin precancer. Immunotherapy with memory T cells in non-melanoma skin cancer > For immunotherapy of cancer to succeed it is likely that a long-lived immune response will be required. This project examines the type of immune memory cells which might be needed for tumour clearance.


Dr Stephen Mattarollo. Research Group: Brianna Doff Undergraduate Student, Takumi Kobayashi Research Assistant, Rory Rearden Undergraduate Student, HengSheng Sow Occupational Trainee

Cancer touches the lives of everyone, whether it is a personal battle, or that of a family member or close friend. It is a deadly disease but we are slowly tipping the balance. Our research into developing new or alternative treatment strategies will hopefully increase the proportion of patients that survive to tell their story.

Dr Stephen Mattarollo Non-Hodgkin’s lymphoma remains an incurable disease despite good initial response to conventional treatment. Therefore, there is an urgent need for new therapeutic options for patients that relapse or have drug-resistant tumours. Many cancers develop as a consequence of failed immune system surveillance. In addition, patients with an intact immune system tend to have enhanced response rates to conventional treatment, such as chemotherapy, and better overall outcomes. It has long been under-appreciated that the effectiveness and success of many front-line treatments for cancer is a direct result of generation or re-activation of an anti-cancer immune response. For example, the Mattarollo group has recently demonstrated that the effectiveness of certain classes of chemotherapy drugs is dependent on an immune-stimulating type of tumor cell death that serves to initiate generation of killer T cells with potent anti-cancer activities. Their research is centered on the concept that combination therapy for cancer that incorporates immunotherapeutic strategies to initiate or enhance anti-cancer immunity will be most effective for achieving durable clinical responses and improving patient outcomes. The group’s current approach is to develop combination chemotherapy-immunotherapy strategies for blood cancers with the focus on a novel therapeutic vaccine they have recently developed against non-Hodgkin’s B cell lymphoma, a common blood cancer in adults.

Key findings: Using a pre-clinical mouse model of B cell lymphoma (Eµmyc transgenic mice), they have demonstrated significant growth inhibition of aggressive Eµmyc tumors with a therapeutic vaccine that targets the immune adjuvant is comprised of properties of natural killer T (NKT) cells. The vaccine comprises of irradiated, whole Eμmyc tumor cells that have been pre-loaded with an NKT cell stimulating molecule, -GalCer. One vaccine treatment


alone was sufficient to prevent outgrowth of Eμmyc lymphoma for 14 days, on average, at which time untreated mice were dying from heavy disease burden. This translated to a doubling in survival time of treated mice (~20 days to ~40 days). The group is now further investigating mechanisms of vaccine-induced immunity and pathways leading to tumour escape/relapse in this model which will establish the feasibility of using whole tumor cell vaccines for induction of anti-lymphoma immunity and how this strategy may be optimised for human trials. Ongoing studies assessing the therapeutic benefit of combining vaccination with monoclonal antibody-based therapy or chemotherapy will provide the platform for future clinical studies investigating vaccination in combination with cytotoxic drugs and other immunomodulating agents in patients with lymphoma.

Current research activities: > Optimising a novel therapeutic vaccine against B cell lymphoma that targets the immune adjuvant activities of natural killer T cells > Combination chemotherapy/immunotherapy strategies against haematological malignancies > Mechanisms of tumor immune escape and tumor resistance against immune-based therapies > The effects of systemic chemotherapy treatment on altering the immune compartment of common organs of metastasis (lungs, liver, bone) to promote or suppress the development of cancer metastasis > Impact of endocytosis inhibitors on anti-CD20 monoclonal antibody-based therapy against B cell malignancies. > Localised immune suppressive mechanisms in HPV-associated pre-cancers.

Associate Professor Nicholas Saunders. Research Group: Liliana Endo-Munoz Senior Research Officer, Andrew Cumming Laboratory Manager, Lilia Merida deLong Research Assistant, Crystal Chang Research Assistant, Orla Gannon PhD Student, Sarina Cameron PhD Student, Mehlika Hazar-Rethinam PhD Student, Richa Singhania PhD Student, Jana Lee McCaskill PhD Student, Melinda Burgess Research Assistant

I believe that biomedical researchers must take responsibility for translating the findings from their basic research into improved treatments for patients. This requires them to extend themselves outside the laboratory to become involved in the conduct of clinical trials.

Associate Professor Nicholas Saunders The Saunders group focuses on the development and trial of new therapies for the treatment of squamous cell carcinoma and osteosarcoma. Most cancers can be cured by surgery or radiation therapy when detected early. In contrast, advanced or metastatic cancers that have spread to other sites of the body are unlikely to be cured by such methods. These cancers are therefore more difficult to cure and are frequently associated with patient death. To improve cure rates researchers need to develop drug therapies that can target disseminated disease specifically. The laboratory is focused on the development of novel targeted drug therapies that can selectively kill advanced cancers.

Key findings: Squamous cell carcinoma The team has established that overexpression of E2F7 in squamous cell carcinoma contributes to their insensitivity to conventional chemotherapeutics and hence treatment failure. Osteosarcoma Dr Liliana Endo-Munoz has identified novel mechanisms in osteosarcoma metastasis and they are now looking at clinical trials for novel therapies.

Current research activities: Development of novel therapies for cutaneous and oral squamous cell carcinoma > Squamous differentiation occurs in the external lining of the skin or the lining of the mouth, nose and throat. In normal states this process of differentiation is tightly regulated. However, in squamous cell carcinomas, the cells of the lining (keratinocytes) have become disrupted such that they no longer control growth, differentiation or cell death appropriately. Over the past few years they have demonstrated that a key controller of differentiation in normal keratinocytes are the E2F factors. They have also shown these factors are disrupted in squamous cell carcinomas. One particular factor, E2F7, is overexpressed in human SCC (200 fold) and the group has shown contributes to anticancer drug resistance. They have extended these studies to identify two key molecules which modulate E2F7-induced drug resistance. One of these molecules is sphingosine kinase 1 and we have preliminary data showing that a novel inhibitor of sphongosine kinase is able to reinstate sensitivity to chemotherapeutics. They are now finalising preclinical animal testing of this drug in combination with a conventional chemotherapeutic as a prelude to a human clinical trial. Identifying the biological basis for osteosarcoma metastasis > Dr Liliana Endo-Munoz has identified novel mechanisms in osteosarcoma metastasis and they are now looking at therapeutic interventions. Please see Dr Endo-Munoz’s profile for further information.


Dr Fiona Simpson. Research Group: Shannon Joseph Postdoctoral Fellow, Lingbo Hu PhD Student, Daniel Gaffney Masters Student and Clinical Fellow, Xin Yi Li Honours Student, Jake O’Donnell Undergraduate Student

Cancer research is very complex and stimulating work. We all have friends and family that have been affected by cancer and it is very rewarding to know that we are doing work that may have significant impacts on so many people.

Dr Fiona Simpson The annualised age corrected incidence of squamous cell carcinoma (SCC) in Australia is 387/100,000 - more than double the estimated incidence in 1985. SCC results in 400 deaths per year. Medicare statistics show that expenditure on SCC increased in real terms by 24% from 1994 to 2002. The Simpson group aims to cure epithelial cancers. These cancers include head and neck cancer, squamous (skin) cell carcinoma, triple-negative breast cancer and metastatic colorectal cancer. Dr Simpson and her team are investigating why some patients are resistant to new generation therapies and using their methods to predict response and to try to overcome the resistance. Predicting response is important for patients who need no further side-effects without further benefit if they are resistant to therapy. Overcoming the resistance would allow higher cure rates for patients. The group has patented a potential way to prevent patient resistance and they are testing their ideas before starting clinical trials. Dr Simpson’s group work with senior oncologists at the Princess Alexandra Hospital including Professor Bryan Burmeister, Associate Professor Sandro Porceddu, Professor Peter Soyer and Dr Matthew Foote. The group has found a potential way to predict which patients will respond to new cancer therapies


and a potential combination therapy to make resistant patients become responsive to the drug. Briefly, they have found that the movement of the epidermal growth factor receptor (EGFR) in tumour cells influences how the patients respond to the new anti-EGFR monoclonal antibody therapies and that this movement can be manipulated with drug compounds so that tumour cells can respond to drug treatment. The group are also testing whether this method is applicable to other new monoclonal therapies such as Rituximab, anti-VEGFR and anti-FGFR. Their findings also show that the patient’s immune response is important in mediating tumour regression in response to monoclonal antibodies and are working with Drs James Wells and Stephen Mattarollo in Professor Ian Frazer’s group to define the immunology responses better.

Current research activities: > How to predict patient response to anti-EGFR monoclonal antibody therapy > Defining mechanism of response to anti-EGFR therapy and use of cell trafficking manipulation to increase patient response and cancer cure rates

Dr James Wells. Research Group: Jennifer Bridge Research Assistant, Enya Chen 3rd Year Undergraduate Student, Madeleine Fletcher Summer Student, Xue Han Masters Student (Biotechnology), Ji-Won Jung PhD Student, Andrew Lewandowski MBBS-MPhil Student, Nana Overgaard Occupational Trainee, Vanessa Ng Shi Qin Honours Student

Vaccines have proven time and again that they have an immense capacity to protect us from disease. I believe we can also harness vaccines to cure existing diseases, and through my work, I hope to provide new cures for cancer.

Dr James Wells Australia has the highest rate of non-melanoma skin cancer in the world – there are over 400,000 new cases each year. Traditionally, vaccines prevent us from getting sick from infections that we’ve not yet been exposed to. However, new vaccines are being developed to treat problems we already have, such as cancer. In order to develop these vaccines we must first understand how cancer and the immune system influence one another. Dr Wells and his group study how to develop therapeutic vaccines for cancer treatment. Therapeutic vaccines differ from conventional vaccines in that, rather than priming the immune system to prevent the establishment of an infection, they must redirect existing immune responses to allow for cancer cell recognition and their subsequent destruction.

A newly established group, they focus on determining how skin cancer induced by ultraviolet light prevents anti-cancer immune responses from destroying cancer lesions in the skin. In doing so, they hope to uncover new technologies for the rapid development of therapeutic vaccines to treat a wide range of cancers.

Current research activities: > Characterising the immunopathology of squamous cell carcinoma of the skin > The development of novel therapeutic vaccines for the treatment of established skin cancer > Breaking skin cancer-associated immune tolerance

Dr Wells’ research programme aims to develop a therapeutic cancer vaccine for a common skin cancer known as squamous cell carcinoma, or SCC. SCC is a big problem in Australia, particularly in northern New South Wales and Queensland, due to the high levels of ultraviolet radiation from the sun that are experienced here.


Publications Aruhuri, B., Tarivonda, L., Tenet, V., Sinha, R., Snijders, P. J. F., Clifford, G., Pang, J., Mcadam, M., Meijer, C., Frazer, I. H. & Franceschi, S. 2012. Prevalence of Cervical Human Papillomavirus (HPV) Infection in Vanuatu. Cancer Prevention Research, 5, 74 Bellenguez, C., Bevan, S., Gschwendtner, A., Spencer, C. C. A., Burgess, A. I., Pirinen, M., Jackson, C. A., Traylor, M., Strange, A., Su, Z., Band, G., Syme, P. D., Malik, R., Pera, J., Norrving, B., Lemmens, R., Freeman, C., Schanz, R., James, T., Poole, D., Murphy, L., Segal, H., Cortellini, L., Cheng, Y. C., Woo, D., Nalls, M. A., Muller-Myhsok, B., Meisinger, C., Seedorf, U., Ross-Adams, H., Boonen, S., Wloch-Kopec, D., Valant, V., Slark, J., Furie, K., Delavaran, H., Langford, C., Deloukas, P., Edkins, S., Hunt, S., Gray, E., Dronov, S., Peltonen, L., Gretarsdottir, S., Thorleifsson, G., Thorsteinsdottir, U., Stefansson, K., Boncoraglio, G. B., Parati, E. A., Attia, J., Holliday, E., Levi, C., Franzosi, M. G., Goel, A., Helgadottir, A., Blackwell, J. M., Bramon, E., Brown, M. A., Casas, J. P., Corvin, A., Duncanson, A., Jankowski, J., Mathew, C. G., Palmer, C. N. A., Plomin, R., Rautanen, A., Sawcer, S. J., Trembath, R. C., Viswanathan, A. C., Wood, N. W., Worrall, B. B., Kittner, S. J., Mitchell, B. D., Kissela, B., Meschia, J. F., Thijs, V., Lindgren, A., Macleod, M. J., Slowik, A., Walters, M., Rosand, J., Sharma, P., Farrall, M., Sudlow, C. L. M., Rothwell, P. M., Dichgans, M., Donnelly, P., Markus, H. S., ISGC & WTCCC. 2012. Genome-wide association study identifies a variant in HDAC9 associated with large vessel ischemic stroke. Nature Genetics, 44, 328-U141. Bellenguez, C., Strange, A., Freeman, C., Donnelly, P., Spencer, C. C. A. & Wellcome Trust Case Control Consortium. 2012. A robust clustering algorithm for identifying problematic samples in genome-wide association studies. Bioinformatics, 28, 134-135. Benjamin, D. J., Cesarini, D., Van Der Loos, M., Dawes, C. T., Koellinger, P. D., Magnusson, P. K. E., Chabris, C. F., Conley, D., Laibson, D., Johannesson, M. & Visscher, P. M. 2012. The genetic architecture of economic and political preferences. Proceedings of the National Academy of Sciences of the United States of America, 109, 8026-8031. Bhargav, A., Muller, D. A., Kendall, M. A. F. & Corrie, S. R. 2012. Surface Modifications of Microprojection Arrays for Improved Biomarker Capture in the Skin of Live Mice. Acs Applied Materials & Interfaces, 4, 2483-2489. Bis, J. C., Decarli, C., Smith, A. V., Van Der Lijn, F., Crivello, F., Fornage, M., Debette, S., Shulman, J. M., Schmidt, H., Srikanth, V., Schuur, M., Yu, L., Choi, S. H., Sigurdsson, S., Verhaaren, B. F. J., Destefano, A. L., Lambert, J. C., Jack, C. R., Struchalin, M., Stankovich, J., Ibrahim-Verbaas, C. A., Fleischman, D., Zijdenbos, A., Den Heijer, T., Mazoyer, B., Coker, L. H., Enzinger, C., Danoy, P., Amin, N., Arfanakis, K., Van Buchem, M. A., De Bruijn, R., Beiser, A., Dufouil, C., Huang, J. B., Cavalieri, M., Thomson, R., Niessen, W. J., Chibnik, L. B., Gislason, G. K., Hofman, A., Bradbury, L. A., Barlow, S., Geoghenan, F., Hannon, R. A., Stuckey, S. L., Wass, J. A. H., Russell, R. G. G., Brown, M. A. and Duncan, E. L. (2012) Risedronate in adults with


osteogenesis imperfecta type I: increased bone mineral density and decreased bone turnover, but high fracture rate persists. Osteoporosis International, 23 1: 285-294. Pikula, A., Amouyel, P., Freeman, K. B., Phan, T. G., Oostra, B. A., Stein, J. L., Medland, S. E., Vasquez, A. A., Hibar, D. P., Wright, M. J.,Franke, B., Martin, N. G., & Thompson, P. M., for Enhancing Neuro Imaging Genetics through Meta-Analysis (ENIGMA) Consortium ., Nalls, M. A., Uitterlinden, A. G., Au, R., Elbaz, A., Beare, R. J., Van Swieten, J. C., Lopez, O. L., Harris, T. B., Chouraki, V., Breteler, M. M. B., De Jager, P. L., Becker, J. T., Vernooij, M. W., Knopman, D., Fazekas, F., Wolf, P. A., Van Der Lugt, A., Gudnason, V., Longstreth, W. T., Brown, M. A., Bennett, D. A., Van Duijn, C. M., Mosley, T. H., Schmidt, R., Tzourio, C., Launer, L. J., Ikram, M. A., &Seshadri, S., for the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium. 2012. Common variants at 12q14 and 12q24 are associated with hippocampal volume. Nature Genetics, 44, 545-+. Blake, S. J., Bokhari, F. F. & Mcmillan, N. A. J. 2012. RNA Interference for Viral Infections. Current Drug Targets, 13, 1411-1420. Blake, S. J., Hughes, T. P. and Lyons, A. B. 2012. Drug-interaction studies evaluating T-cell proliferation reveal distinct activity of dasatinib and imatinib in combination with cyclosporine A. Experimental Hematology, 40 8: 612-621. Blumenthal, A., Nagalingam, G., Huch, J. H., Walker, L., Guillemin, G. J., Smythe, G. A., Ehrt, S., Britton, W. J. & Saunders, B. M. 2012. M-tuberculosis Induces Potent Activation of IDO-1, but This Is Not Essential for the Immunological Control of Infection. Plos One, 7(5): e37314. Boraska V, Jerončić A, Colonna V, Southam L, Nyholt DR, Rayner NW, Perry JR, Toniolo D, Albrecht E, Ang W, Bandinelli S, Barbalic M, Barroso I, Beckmann JS, Biffar R, Boomsma D, Campbell H, Corre T, Erdmann J, Esko T, Fischer K, Franceschini N, Frayling TM, Girotto G, Gonzalez JR, Harris TB, Heath AC, Heid IM, Hoffmann W, Hofman A, Horikoshi M, Zhao JH, Jackson AU, Hottenga JJ, Jula A, Kähönen M, Khaw KT, Kiemeney LA, Klopp N, Kutalik Z, Lagou V, Launer LJ, Lehtimäki T, Lemire M, Lokki ML, Loley C, Luan J, Mangino M, Mateo Leach I, Medland SE, Mihailov E, Montgomery GW, Navis G, Newnham J, Nieminen MS, Palotie A, Panoutsopoulou K, Peters A, Pirastu N, Polasek O, Rehnström K, Ripatti S, Ritchie GR, Rivadeneira F, Robino A, Samani NJ, Shin SY, Sinisalo J, Smit JH, Soranzo N, Stolk L, Swinkels DW, Tanaka T, Teumer A, Tönjes A, Traglia M, Tuomilehto J, Valsesia A, van Gilst WH, van Meurs JB, Smith AV, Viikari J, Vink JM, Waeber G, Warrington NM, Widen E, Willemsen G, Wright AF, Zanke BW, Zgaga L; Wellcome Trust Case Control Consortium, Boehnke M, d’Adamo AP, de Geus E, Demerath EW, den Heijer M, Eriksson JG, Ferrucci L, Gieger C, Gudnason V, Hayward C, Hengstenberg C, Hudson TJ, Järvelin MR, Kogevinas M, Loos RJ, Martin NG, Metspalu A, Pennell CE, Penninx BW, Perola M, Raitakari O, Salomaa V, Schreiber S, Schunkert H, Spector TD, Stumvoll M, Uitterlinden AG, Ulivi S, van der Harst P, Vollenweider P, Völzke H, Wareham NJ,

Wichmann HE, Wilson JF, Rudan I, Xue Y, Zeggini E. Genome-wide meta-analysis of common variant differences between men and women. Hum Mol Genet. 2012 Nov 1;21(21):4805-15. doi: 10.1093/hmg/dds304. Epub 2012 Jul 27. Brooks, K., Oakes, V., Edwards, B., Ranall, M., Leo, P., Pavey, S., Pinder, A., Beamish, H., Mukhopadhyay, P., Lambie, D. and Gabrielli, B. 2012. A potent Chk1 inhibitor is selectively cytotoxic in melanomas with high levels of replicative stress. Oncogene, 32, 788–796. Brooks, K. & Gabrielli, B. 2012. Keeping replicative stress in Chk. Cell Cycle, 11, 2039-2040. Brown, A. L., Salerno, D. G., Sadras, T., Engler, G. A., Kok, C. H., Wilkinson, C. R., Samaraweera, S. E., Sadlon, T. J., Perugini, M., Lewis, I. D., Gonda, T. J. & D’andrea, R. J. 2012. The GM-CSF receptor utilizes betacatenin and Tcf4 to specify macrophage lineage differentiation. Differentiation, 83, 47-59. Bullock, M., Duncan, E. L., O’Neill, C., Tacon, L., Sywak, M., Sidhu, S., Delbridge, L., Learoyd, D., Robinson, B. G., Ludgate, M. and Clifton-Bligh, R. J. 2012. Association of FOXE1 polyalanine repeat region with papillary thyroid cancer. Journal of Clinical Endocrinology and Metabolism, 97 9: E1814-E1819. Calvin, C. M., Deary, I. J., Webbink, D., Smith, P., Fernandes, C., Lee, S. H., Luciano, M. & Visscher, P. M. 2012. Multivariate Genetic Analyses of Cognition and Academic Achievement from Two Population Samples of 174,000 and 166,000 School Children. Behavior Genetics, 42, 699-710. Cameron, S., De Long, L. M., Hazar-Rethinam, M., Topkas, E., Endo-Munoz, L., Cumming, A., Gannon, O., Guminski, A. & Saunders, N. 2012. Focal overexpression of CEACAM6 contributes to enhanced tumourigenesis in head and neck cancer via suppression of apoptosis. Molecular Cancer, 11. Carroll, J., Protani, M., Walpole, E. and Martin, J. H. 2012. Effect of obesity on toxicity in women treated with adjuvant chemotherapy for early-stage breast cancer: a systematic review. Breast Cancer Research and Treatment,136 2: 323-330. Chen, X. F., Fernando, G. J. P., Raphael, A. P., Yukiko, S. R., Fairmaid, E. J., Primiero, C. A., Frazer, I. H., Brown, L. E. & Kendall, M. A. F. 2012. Rapid kinetics to peak serum antibodies is achieved following influenza vaccination by dry-coated densely packed microprojections to skin. Journal of Controlled Release, 158, 78-84. Chuan YP, Zeng BY, O’Sullivan B, Thomas R, Middelberg AP. Co-delivery of antigen and a lipophilic anti-inflammatory drug to cells via a tailorable nanocarrier emulsion. J Colloid Interface Sci. 2012 Feb 15;368(1):616-24. doi: 10.1016/j.jcis.2011.11.014. Epub 2011 Nov 22. Clark, M. B., Johnston, R. L., Inostroza-Ponta, M., Fox, A. H., Fortini, E., Moscato, P., Dinger, M. E. & Mattick, J. S. 2012. Genome-wide analysis of long noncoding RNA stability. Genome Research, 22, 885-898. Coleman MA, Bridge JA, Lane SW, Dixon CM, Hill GR, Wells JW, Thomas R, Steptoe RJ. (2013) Tolerance induction with gene-modified stem cells and immune-preserving conditioning

in primed mice: restricting antigen to differentiated antigen-presenting cells permits efficacy. Blood, 121 6: 1049-1058. Epub 2012. Coleman MA, Bridge JA, Lane SW, Dixon CM, Hill GR, Wells JW, Thomas R, Steptoe RJ. (2013) Tolerance induction with gene-modified stem cells and immune-preserving conditioning in primed mice: restricting antigen to differentiated antigen-presenting cells permits efficacy. Blood, 121 6: 1049-1058. Epub 2012. Coleman, M. A. & Steptoe, R. J. 2012. Induction of antigen-specific tolerance through hematopoietic stem cell-mediated gene therapy: The future for therapy of autoimmune disease? Autoimmunity Reviews, 12, 195-203. Cooper, J. D., Simmonds, M. J., Walker, N. M., Burren, O., Brand, O. J., Guo, H., Wallace, C., Stevens, H., Coleman, G., Franklyn, J. A., Todd, J. A., Gough, S. C. L. & Wellcome Trust Case Control Consortium. 2012. Seven newly identified loci for autoimmune thyroid disease. Human Molecular Genetics, 21, 5202-5208. Couto, A. R., Zhang, Y., Timms, A., Bruges-Armas, J., Sequeiros, J. & Brown, M. A. 2012. Investigating ANKH and ENPP1 in Slovakian families with chondrocalcinosis. Rheumatology International, 32, 2745-2751. Crichton, M. L., Chen, X., Huang, H. and Kendall, M. A. F. (2013) Elastic modulus and viscoelastic properties of full thickness skin characterised at micro scales. Biomaterials, 34 8: 2087-2097. Davies, G., Harris, S. E., Reynolds, C. A., Payton, A., Knight, H. M., Liewald, D. C., Lopez, L. M., Luciano, M., Gow, A. J., Corley, J., Henderson, R., Murray, C., Pattie, A., Fox, H. C., Redmond, P., Lutz, M. W., Chiba-Falek, O., Linnertz, C., Saith, S., Haggarty, P., McNeill, G., Ke, X., Ollier, W., Horan, M., Roses, A. D., Ponting, C. P., Porteous, D. J., Tenesa, A., Pickles, A., Starr, J. M., Whalley, L. J., Pedersen, N. L., Pendleton, N., Visscher, P. M. and Deary, I. J. 2012. A genome-wide association study implicates the APOE locus in nonpathological cognitive ageing. Molecular Psychiatry, Deary, I. J., Yang, J., Davies, G., Harris, S. E., Tenesa, A., Liewald, D., Luciano, M., Lopez, L. M., Gow, A. J., Corley, J., Redmond, P., Fox, H. C., Rowe, S. J., Haggarty, P., Mcneill, G., Goddard, M. E., Porteous, D. J., Whalley, L. J., Starr, J. M. & Visscher, P. M. 2012. Genetic contributions to stability and change in intelligence from childhood to old age. Nature, 482, 212-215. Diaz, M., Martel, N., Fitzsimmons, R. L., Eriksson, N. A., Cowin, G. J., Thomas, G. P., Le Cao, K. A., Muscat, G. E. O. & Leong, G. M. 2012. Ski Overexpression in Skeletal Muscle Modulates Genetic Programs That Control Susceptibility to Diet-Induced Obesity and Insulin Signaling. Obesity, 20, 2157-2167. Endo-Munoz, L., Evdokiou, A. & Saunders, N. A. 2012. The role of osteoclasts and tumour-associated macrophages in osteosarcoma metastasis. Biochimica Et Biophysica Acta-Reviews on Cancer, 1826, 434-442. Erlich, R. B., Kherrouche, Z., Rickwood, D., Endo-Munoz, L., Cameron, S., Dahler, A., Hazar-Rethinam, M., De Long, L. M., Wooley,

K., Guminski, A. & Saunders, N. A. 2012. Preclinical evaluation of dual PI3K-mTOR inhibitors and histone deacetylase inhibitors in head and neck squamous cell carcinoma. British Journal of Cancer, 106, 107-115. Esapa, C. T., Head, R. A., Jeyabalan, J., Evans, H., Hough, T. A., Cheeseman, M. T., Mcnally, E. G., Carr, A. J., Thomas, G. P., Brown, M. A., Croucher, P. I., Brown, S. D. M., Cox, R. D. & Thakker, R. V. 2012. A Mouse with an N-Ethyl-N-Nitrosourea (ENU) Induced Trp589Arg Galnt3 Mutation Represents a Model for Hyperphosphataemic Familial Tumoural Calcinosis. Plos One, 7(8): e43205. Esapa, C. T., Hough, T. A., Testori, S., Head, R. A., Crane, E. A., Chan, C. P. S., Evans, H., Bassett, J. H. D., Tylzanowski, P., Mcnally, E. G., Carr, A. J., Boyde, A., Howell, P. G. T., Clark, A., Williams, G. R., Brown, M. A., Croucher, P. I., Nesbit, M. A., Brown, S. D. M., Cox, R. D., Cheeseman, M. T. & Thakker, R. V. 2012. A mouse model for spondyloepiphyseal dysplasia congenita with secondary osteoarthritis due to a Col2a1 mutation. Journal of Bone and Mineral Research, 27, 413-428. Estrada, K., Styrkarsdottir, U., Evangelou, E., Hsu, Y. H., Duncan, E. L., Ntzani, E. E., Oei, L., Albagha, O. M. E., Amin, N., Kemp, J. P., Koller, D. L., Li, G., Liu, C. T., Minster, R. L., Moayyeri, A., Vandenput, L., Willner, D., Xiao, S. M., Yerges-Armstrong, L. M., Zheng, H. F., Alonso, N., Eriksson, J., Kammerer, C. M., Kaptoge, S. K., Leo, P. J., Thorleifsson, G., Wilson, S. G., Wilson, J. F., Aalto, V., Alen, M., Aragaki, A. K., Aspelund, T., Center, J. R., Dailiana, Z., Duggan, D. J., Garcia, M., Garcia-Giralt, N., Giroux, S., Hallmans, G., Hocking, L. J., Husted, L. B., Jameson, K. A., Khusainova, R., Kim, G. S., Kooperberg, C., Koromila, T., Kruk, M., Laaksonen, M., Lacroix, A. Z., Lee, S. H., Leung, P. C., Lewis, J. R., Masi, L., Mencej-Bedrac, S., Nguyen, T. V., Nogues, X., Patel, M. S., Prezelj, J., Rose, L. M., Scollen, S., Siggeirsdottir, K., Smith, A. V., Svensson, O., Trompet, S., Trummer, O., Van Schoor, N. M., Woo, J., Zhu, K., Balcells, S., Brandi, M. L., Buckley, B. M., Cheng, S. L., Christiansen, C., Cooper, C., Dedoussis, G., Ford, I., Frost, M., Goltzman, D., GonzalezMacias, J., Kahonen, M., Karlsson, M., Khusnutdinova, E., Koh, J. M., Kollia, P., Langdahl, B. L., Leslie, W. D., Lips, P., Ljunggren, O., Lorenc, R. S., Marc, J., Mellstrom, D., Obermayer-Pietsch, B., Olmos, J. M., Pettersson-Kymmer, U., Reid, D. M., Riancho, J. A., Ridker, P. M., Rousseau, F., Slagboom, P. E., Tang, N. L. S., et al. 2012. Genome- wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture. Nature Genetics, 44, 491-+. Eyre, S., Bowes, J., Diogo, D., Lee, A., Barton, A., Martin, P., Zhernakova, A., Stahl, E., Viatte, S., Mcallister, K., Amos, C. I., Padyukov, L., Toes, R. E. M., Huizinga, T. W. J., Wijmenga, C., Trynka, G., Franke, L., Westra, H. J., Alfredsson, L., Hu, X. L., Sandor, C., De Bakker, P. I. W., Davila, S., Khor, C. C., Heng, K. K., Andrews, R., Edkins, S., Hunt, S. E., Langford, C., Symmons, D., Biologics in Rheumatoid Arthritis Genetics and Genomics Study Syndicate, Wellcome Trust Case Control Consortium Concannon, P., Onengut-Gumuscu,

S., Rich, S. S., Deloukas, P., Gonzalez-Gay, M. A., Rodriguez-Rodriguez, L., Arlsetig, L., Martin, J., Rantapaa-Dahlqvist, S., Plenge, R. M., Raychaudhuri, S., Klareskog, L., Gregersen, P. K., Worthington, J. 2012. High-density genetic mapping identifies new susceptibility loci for rheumatoid arthritis. Nature Genetics, 44, 1336-1340. Fernando, G. J. P., Chen, X. F., Primiero, C. A., Yukiko, S. R., Fairmaid, E. J., Corbett, H. J., Frazer, I. H., Brown, L. E. & Kendall, M. A. F. 2012. Nanopatch targeted delivery of both antigen and adjuvant to skin synergistically drives enhanced antibody responses. Journal of Controlled Release, 159, 215-221. Fiorenza, S., Kenna, T. J., Comerford, I., Mccoll, S., Steptoe, R. J., Leggatt, G. R. & Frazer, I. H. 2012. A Combination of Local Inflammation and Central Memory T Cells Potentiates Immunotherapy in the Skin. Journal of Immunology, 189, 5622-5631. Fischer, R., Trudgian, D. C., Wright, C., Thomas, G., Bradbury, L. A., Brown, M. A., Bowness, P. & Kessler, B. M. 2012. Discovery of Candidate Serum Proteomic and Metabolomic Biomarkers in Ankylosing Spondylitis. Molecular & Cellular Proteomics, 11(2). Gabrielli, B., Brooks, K. and Pavey, S. 2012. Defective cell cycle checkpoints as targets for anti-cancer therapies. Frontiers in Pharmacology, 3 9: 9.1-9.6. Gan, C. P., Hamid, S., Hor, S. Y., Zain, R. B., Ismail, S. M., Mustafa, W. M. W., Teo, S. H., Saunders, N. & Cheong, S. C. 2012. Valproic acid: Growth inhibition of head and neck cancer by induction of terminal differentiation and senescence. Head and Neck-Journal for the Sciences and Specialties of the Head and Neck, 34, 344-353. Gannon OM, Merida de Long L, Endo-Munoz L, Hazar-Rethinam M, Saunders NA. Dysregulation of the repressive H3K27 trimethylation mark in head and neck squamous cell carcinoma contributes to dysregulated squamous differentiation. Clin Cancer Res. 2013 Jan 15;19(2):428-41. doi: 10.1158/ 1078-0432.CCR-12-2505. Epub 2012 Nov 27. Gascoigne, D. K., Cheetham, S. W., Cattenoz, P. B., Clark, M. B., Amaral, P. P., Taft, R. J., Wilhelm, D., Dinger, M. E. & Mattick, J. S. 2012. Pinstripe: a suite of programs for integrating transcriptomic and proteomic datasets identifies novel proteins and improves differentiation of protein-coding and non-coding genes. Bioinformatics, 28, 3042-3050. Giles, N., Pavey, S., Pinder, A. & Gabrielli, B. 2012. Multiple melanoma susceptibility factors function in an ultraviolet radiation response pathway in skin. British Journal of Dermatology, 166, 362-371. Gordon, L., Joo, J. E., Powel, J. E., Ollikainen, M., Novakovic, B., Li, X., Andronikos, R., Cruickshank, M. N., Conneely, K. N., Smith, A. K., Alisch, R. S., Morley, R., Visscher, P. M., Craig, J. M. & Saffery, R. 2012. Neonatal DNA methylation profile in human twins is specified by a complex interplay between intrauterine environmental and genetic factors, subject to tissue-specific influence. Genome Research, 22, 1395-1406.


Publications cont. Gregson, C. L., Steel, S. A., O’Rourke, K. P., Allan, K., Ayuk, J., Bhalla, A., Clunie, G., Crabtree, N., Fogelman, I., Goodby, A., Langman, CM, Linton, S, Marriott, E, McCloskey, E, Moss, KE, Palferman, T, Panthakalam, S., Poole, K. E. S., Stone, MD, Turton, J., Wallis, D., Warburton, S., Wass, J., Duncan, E. L., Brown, M. A., Davey-Smith, G. and Tobias, J. H. (2012) ‘Sink or swim’: an evaluation of the clinical characteristics of individuals with high bone mass. Osteoporosis International, 23 2: 643-654. Gruber, B. L., Couto, A. R., Armas, J. B., Brown, M. A., Finzel, K. & Terkeltaub, R. A. 2012. Novel ANKH Amino Terminus Mutation (Pro5Ser) Associated With Early-Onset Calcium Pyrophosphate Disease With Associated Phosphaturia. Jcr-Journal of Clinical Rheumatology, 18, 192-195. Hamilton-Williams, E. E., Cheung, J., Rainbow, D. B., Hunter, K. M., Wicker, L. S. and Sherman, L. A. 2012. Cellular mechanisms of restored -cell tolerance mediated by protective alleles of Idd3 and Idd5. Diabetes, 61 1:166-174. Haynes, K. R., Pettit, A. R., Duan, R., Tseng, H.-W., Glant, T. T., Brown, M. A. and Thomas, G. P. 2012. Excessive bone formation in a mouse model of ankylosing spondylitis is associated with decreases in Wnt pathway inhibitors. Arthritis Research & Therapy, 14 6: R253.1-R253.12. Heng, T. S. P., Reiseger, J. J., Fletcher, A. L., Leggatt, G. R., White, O. J., Vlahos, K., Frazer, I. H., Turner, S. J. & Boyd, R. L. 2012. Impact of Sex Steroid Ablation on Viral, Tumour and Vaccine Responses in Aged Mice. Plos One, 7(8): e42677. Hill, M. M., Daud, N. H., Aung, C. S., Loo, D., Martin, S., Murphy, S., Black, D. M., Barry, R., Simpson, F., Liu, L. B., Pilch, P. F., Hancock, J. F., Parat, M. O. & Parton, R. G. 2012. Co-Regulation of Cell Polarization and Migration by Caveolar Proteins PTRF/Cavin-1 and Caveolin-1. Plos One, 7(8): e43041. Holliday, E. G., Maguire, J. M., Evans, T. J., Koblar, S. A., Jannes, J., Sturm, J. W., Hankey, G. J., Baker, R., Golledge, J., Parsons, M. W., Malik, R., Mcevoy, M., Biros, E., Lewis, M. D., Lincz, L. F., Peel, R., Oldmeadow, C., Smith, W., Moscato, P., Barlera, S., Bevan, S., Bis, J. C., Boerwinkle, E., Boncoraglio, G. B., Brott, T. G., Brown, R. D., Cheng, Y. C., Cole, J. W., Cotlarciuc, I., Devan, W. J., Fornage, M., Furie, K. L., Gretarsdottir, S., Gschwendtner, A., Ikram, M. A., Longstreth, W. T., Meschia, J. F., Mitchell, B. D., Mosley, T. H., Nalls, M. A., Parati, E. A., Psaty, B. M., Sharma, P., Stefansson, K., Thorleifsson, G., Thorsteinsdottir, U., Traylor, M., Verhaaren, B. F. J., Wiggins, K. L., Worrall, B. B., The Australian Stroke Genetics Collaborative., The International Stroke Genetics Consortium., The Wellcome Trust Case Control Consortium 2., Sudlow, C., Rothwell, P. M., Farrall, M., Dichgans, M., Rosand, J., Markus, H. S., Scott, R. J., Levi, C., Attia, J. 2012. Common variants at 6p21.1 are associated with large artery atherosclerotic stroke. Nature Genetics, 44, 1147Hunt, K. A., Smyth, D. J., Balschun, T., Ban, M., Mistry, V., Ahmad, T., Anand, V., Barrett, J. C., Bhaw-Rosun, L., Bockett, N. A., Brand, O. J., Brouwer, E., Concannon, P., Cooper, J. D., Dias, K. R. M., Van Diemen, C. C., Dubois,


P. C., Edkins, S., Folster-Holst, R., Fransen, K., Glass, D. N., Heap, G. A. R., Hofmann, S., Huizinga, T. W. J., Hunt, S., Langford, C., Lee, J., Mansfield, J., Marrosu, M. G., Mathew, C. G., Mein, C. A., Muller-Quernheim, J., Nutland, S., Onengut-Gumuscu, S., Ouwehand, W., Pearce, K., Prescott, N. J., Posthumus, M. D., Potter, S., Rosati, G., Sambrook, J., Satsangi, J., Schreiber, S., Shtir, C., Simmonds, M. J., Sudman, M., Thompson, S. D., Toes, R., Trynka, G., Vyse, T. J., Walker, N. M., Weidinger, S., Zhernakova, A., Zoledziewska, M., Type 1 Diabetes Genetics Consortium, Uk Inflammatory Bowel Disease (Ibd) Genetics Consortium, Wellcome Trust Case Control Consortium Weersma, R. K., Gough, S. C. L., Sawcer, S., Wijmenga, C., Parkes, M., Cucca, F., Franke, A., Deloukas, P., Rich, S. S., Todd, J. A., Van Heel, D. A. 2012. Rare and functional SIAE variants are not associated with autoimmune disease risk in up to 66,924 individuals of European ancestry. Nature Genetics, 44, 3-5. Inder, K. L., Loo, D., Zheng, Y. Z., Parton, R. G., Foster, L.J., Hill, M. M. (2012) Normalization of protein at different stages in SILAC subcellular proteomics affects functional analysis. Journal of Integrated OMICS, 2 2: 114-122. Inder, K. L., Zheng, Y. Z., Davis, M. J., Moon, H., Loo, D., Nguyen, H., Clements, J. A., Parton, R. G., Foster, L. J. & Hill, M. M. 2012. Expression of PTRF in PC-3 Cells Modulates Cholesterol Dynamics and the Actin Cytoskeleton Impacting Secretion Pathways. Molecular & Cellular Proteomics, 11. Irish Schizophrenia Genomics Consortium and the Wellcome Trust Case Control Consortium 2., ( Strange, A., Riley, B. P., Spencer, C. C. A., Morris, D. W., Pirinen, M., O’dushlaine, C. T., Su, Z., Maher, B. S., Freeman, C., Cormican, P., Bellenguez, C., Kenny, E. M., Band, G., Wormley, B., Donohoe, G., Dilthey, A., Moutsianas, L., Quinn, E., Edkins, S., Judge, R., Coleman, K., Hunt, S., Tropea, D., Roche, S., Cummings, L., Kelleher, E., Mckeon, P., Dinan, T., Mcdonald, C., Murphy, K. C., O’callaghan, E., O’neill, F. A., Waddington, J. L., Walsh, D., Giannoulatou, E., Langford, C., Deloukas, P., Gray, E., Dronov, S., Potter, S., Pearson, R., Vukcevic, D., TashakkoriGhanbaria, A., Blackwell, J. M., Bramon, E., Brown, M. A., Casas, J. P., Duncanson, A., Jankowski, J., Markus, H. S., Mathew, C. G., Palmer, C. N. A., Plomin, R., Rautanen, A., Sawcer, S. J., Trembath, R. C., Viswanathan, A. C., Wood, N. W., Stone, J., Scolnick, E., Purcell, S., Sklar, P., Ripke, S., Walters, J., Owen, M. J., O’donovan, M. C., Peltonen, L., Mcvean, G., Kendler, K. S., Gill, M., Donnelly, P., Corvin, A.) 2012. Genome-Wide Association Study Implicates HLA-C*01:02 as a Risk Factor at the Major Histocompatibility Complex Locus in Schizophrenia. Biological Psychiatry, 72, 620-628. Irvine, K. M., Gallego, P., An, X. Y., Best, S. E., Thomas, G., Wells, C., Harris, M., Cotterill, A. & Thomas, R. 2012. Peripheral Blood Monocyte Gene Expression Profile Clinically Stratifies Patients With Recent-Onset Type 1 Diabetes. Diabetes, 61, 1281-1290. Jardine, D., Lu, J. Q., Pang, J., Palmer, C., Tu, Q. M., Chuah, J. & Frazer, I. H. 2012. A randomized trial of immunotherapy for

persistent genital warts. Human Vaccines & Immunotherapeutics, 8, 623-629. Jenkins, D., Corrie, S., Flaim, C. & Kendall, M. 2012. High density and high aspect ratio solid micro-nanoprojection arrays for targeted skin vaccine delivery and specific antibody extraction. Rsc Advances, 2, 3490-3495. Joshi, R., Reveille, J. D., Brown, M. A., Weisman, M. H., Ward, M. M., Gensler, L. S., Wordsworth, B. P., Evans, D. M. & Assassi, S. 2012. Is There a Higher Genetic Load of Susceptibility Loci in Familial Ankylosing Spondylitis? Arthritis Care & Research, 64, 780-784. Karaderi T, Pointon JJ, Wordsworth TW, Harvey D, Appleton LH, Cohen CJ, Farrar C, Harin A, Brown MA, Wordsworth BP; Australo-Anglo-American Spondyloarthritis Consortium. Evidence of genetic association between TNFRSF1A encoding the p55 tumour necrosis factor receptor, and ankylosing spondylitis in UK Caucasians. Clin Exp Rheumatol. 2012 Jan-Feb;30(1):110-3. Epub 2012 Mar 7. Karunaratne, A., Esapa, C. R., Hiller, J., Boyde, A., Head, R., Bassett, J. H. D., Terrill, N. J., Williams, G. R., Brown, M. A., Croucher, P. I., Brown, S. D. M., Cox, R. D., Barber, A. H., Thakker, R. V. & Gupta, H. S. 2012. Significant Deterioration in Nanomechanical Quality Occurs Through Incomplete Extrafibrillar Mineralization in Rachitic Bone: Evidence From In-Situ Synchrotron X-ray Scattering and Backscattered Electron Imaging. Journal of Bone and Mineral Research, 27, 876-890. Kee, A. L., Isenring, E., Hickman, I. & Vivanti, A. 2012. Resting energy expenditure of morbidly obese patients using indirect calorimetry: a systematic review. Obesity Reviews, 13, 753-765. Kemper, K. E., Daetwyler, H. D., Visscher, P. M. & Goddard, M. E. 2012. Comparing linkage and association analyses in sheep points to a better way of doing GWAS. Genetics Research, 94, 191-203. Kemper, K. E., Visscher, P. M. & Goddard, M. E. 2012. Genetic architecture of body size in mammals. Genome Biology, 13. Kenna, T. J., Davidson, S. I., Duan, R., Bradbury, L. A., Mcfarlane, J., Smith, M., Weedon, H., Street, S., Thomas, R., Thomas, G. P. & Brown, M. A. 2012. Enrichment of Circulating Interleukin-17-Secreting Interleukin-23 Receptor-Positive gamma/ delta T Cells in Patients with Active Ankylosing Spondylitis. Arthritis and Rheumatism, 64, 1420-1429. Khairuddin, N., Gantier, M. P., Blake, S. J., Wu, S. Y., Behlke, M. A., Williams, B. R. G. & Mcmillan, N. A. J. 2012. siRNA-induced immunostimulation through TLR7 promotes antitumoral activity against HPV-driven tumors in vivo. Immunology and Cell Biology, 90, 187-196. Knight, J., Spain, S. L., Capon, F., Hayday, A., Nestle, F. O., Clop, A., Wellcome Trust Case Control Consortium., Genetic Analysis Of Psoriasis Consortium., I-Chip For Psoriasis Consortium., Barker, J. N., Weale, M. E., Trembath, R. C. 2012. Conditional analysis identifies three novel major histocompatibility complex loci associated with psoriasis. Human Molecular Genetics, 21, 5185-5192.

Krishnan, K., Steptoe, A. L., Martin, H. C., Wani, S., Nones, K., Waddell, N., Mariasegaram, M., Simpson, P. T., Lakhani, S. R., Gabrielli, B., Vlassov, A., Cloonan, N. and Grimmond, S. M. (2013) MicroRNA-182-5-p targets a network of genes involved in DNA repair. RNA, 19 2: 230-242.

Lim, Y. C., Roberts, T. L., Day, B. W., Harding, A., Kozlov, S., Kijas, A. W., Ensbey, K. S., Walker, D. G. & Lavin, M. F. 2012. A Role for Homologous Recombination and Abnormal Cell-Cycle Progression in Radioresistance of Glioma-Initiating Cells. Molecular Cancer Therapeutics, 11, 1863-1872.

Law SC, Street S, Yu CH, Capini C, Ramnoruth S, Nel HJ, van Gorp E, Hyde C, Lau K, Pahau H, Purcell AW, Thomas R. (2012) T-cell autoreactivity to citrullinated autoantigenic peptides in rheumatoid arthritis patients carrying HLA-DRB1 shared epitope alleles. Arthritis Research and Therapy, 14 3: R118.1-R118.12.

Lucas, G., Lluis-Ganella, C., Subirana, I., Musameh, M. D., Gonzalez, J. R., Nelson, C. P., Senti, M., The Myocardial Infarction Genetics Consortium., The Wellcome Trust Case Control Consortium., Schwartz, S. M., Siscovick, D., O’donnell, C. J., Melander, O., Salomaa, V., Purcell, S., Altshuler, D., Samani, N. J., Kathiresan, S., Elosua, R. 2012. Hypothesis-Based Analysis of Gene-Gene Interactions and Risk of Myocardial Infarction. Plos One, 7(8): e41730.

Lane, S., Gill, D., Mcmillan, N. A. J., Saunders, N., Murphy, R., Spurr, T., Keane, C., Fan, H. M. & Mollee, P. 2012. Valproic acid combined with cytosine arabinoside in elderly patients with acute myeloid leukemia has in vitro but limited clinical activity. Leukemia & Lymphoma, 53, 1077-1083. Lee, S. H., Decandia, T. R., Ripke, S., Yang, J., The Schizophrenia Psychiatric Genome-Wide Association Study Consortium (PGC-SCZ), The International Schizophrenia Consortium (ISC), The Molecular Genetics of Schizophrenia Collaboration (MGS) Sullivan, P. F., Goddard, M. E., Keller, M. C., Visscher, P. M., Wray, N. R. 2012. Estimating the proportion of variation in susceptibility to schizophrenia captured by common SNPs. Nature Genetics, 44, 247-U35. Lee, S. H., Harold, D., Nyholt, D. R., ANZGene Consortium, International Endogene Consortium, Genetic and Environmental Risk for Alzheimer’s disease (GERAD1) Consortium, Goddard, M. E., Zondervan, K. T., Williams, J., Montgomery, G. W., Wray, N. R. and Visscher, P. M. (2013) Estimation and partitioning of polygenic variation captured by common SNPs for Alzheimer’s disease, multiple sclerosis and endometriosis. Human Molecular Genetics, 22 4: 832-841. Lee, S. H., Goddard, M. E., Wray, N. R. & Visscher, P. M. 2012. A Better Coefficient of Determination for Genetic Profile Analysis. Genetic Epidemiology, 36, 214-224. Lee, S. H., Yang, J., Goddard, M. E., Visscher, P. M. and Wray, N. R. 2012. Estimation of pleiotropy between complex diseases using single-nucleotide polymorphism-derived genomic relationships and restricted maximum likelihood. Bioinformatics, 28 19: 2540-2542 Leggatt, G. R. & Gabrielli, B. 2012. Histone deacetylase inhibitors in the generation of the anti-tumour immune response. Immunology and Cell Biology, 90, 33-38. Lill CM, Liu T, Schjeide BM, Roehr JT, Akkad DA, Damotte V, Alcina A, Ortiz MA, Arroyo R, Lopez de Lapuente A, Blaschke P, Winkelmann A, Gerdes LA, Luessi F, Fernadez O, Izquierdo G, Antigüedad A, Hoffjan S, Cournu-Rebeix I, Gromöller S, Faber H, Liebsch M, Meissner E, Chanvillard C, Touze E, Pico F, Corcia P; ANZgene Consortium,{dagger}, Dörner T, Steinhagen-Thiessen E, Baeckman L, Heekeren HR, Li SC, Lindenberger U, Chan A, Hartung HP, Aktas O, Lohse P, Kümpfel T, Kubisch C, Epplen JT, Zettl UK, Fontaine B, Vandenbroeck K, Matesanz F, Urcelay E, Bertram L, Zipp F. 2012. Closing the case of APOE in multiple sclerosis: no association with disease risk in over 29 000 subjects. Journal of Medical Genetics, 49 9: 558-562.

Luo, X., Hutley, L. J., Webster, J. A., Kim, Y-H., Liu, D-F., Newell, F. S., Widberg, C. H., Bachmann, A., Turner, N., Schmitz-Peiffer, C., Prins, J. B., Yang, G-S. and Whitehead, J. P. 2012. Identification of BMP and activin membrane-bound inhibitor (BAMBI) as a potent negative regulator of adipogenesis and modulator of autocrine/paracrine adipogenic factors. Diabetes, 61 1: 124-136. Markey, K. A., Koyama, M., Kuns, R. D., Lineburg, K. E., Wilson, Y. A., Olver, S. D., Raffelt, N. C., Don, A. L. J., Varelias, A., Robb, R. J., Cheong, M., Engwerda, C. R., Steptoe, R. J., Ramshaw, H. S., Lopez, A. F., VegaRamos, J., Lew, A. M., Villadangos, J. A., Hill, G. R. & Macdonald, K. P. A. 2012. Immune insufficiency during GVHD is due to defective antigen presentation within dendritic cell subsets. Blood, 119, 5918-5930. Martin, J., Barras, M., Yui, N. A., Kirkpatrick, C., Kubler, P. and Norris, R. 2012. Gentamicin monitoring practices in teaching hospitals – time to undertake the necessary randomised controlled trial. Journal of Clinical Toxicology, 2 8: 146.1-146.5. Martin, J. H., Coory, M. and Baade, P. 2012. Challenges of an ageing and dispersed population for delivering cancer services in Australia: more than just doctors needed. Internal Medicine Journal, 42 4: 349-351. Martin, J. H., Thelle, D. E., Ho, K. K. Y. & Frazer, I. H. 2012. Diamantina Health Partners: integrating leadership in research, research translation, education and clinical care. Medical Journal of Australia, 196, 237-239. Martin, S., Fernandez-Rojo, M. A., Stanley, A. C., Bastiani, M., Okano, S., Nixon, S. J., Thomas, G., Stow, J. L. and Parton, R. G. 2012. Caveolin-1 deficiency leads to increased susceptibility to cell death and fibrosis in white adipose tissue: characterization of a lipodystrophic model. PLoS One, 7 9 Article No. e46242: . Mattarollo, S. R. & Frazer, I. H. 2012. Response to Comment on “Invariant NKT Cells in Hyperplastic Skin Induced a Local Immune Suppressive Environment by IFN-gamma Production”. Journal of Immunology, 188, 931-932. Melino, M., Gadd, V. L., Walker, G. V., Skoien, R., Barrie, H. D., Jothimani, D., Horsfall, L., Jones, A., Sweet, M. J., Thomas, G. P., Clouston, A. D., Jonsson, J. R. & Powell, E. E. 2012. Macrophage secretory products induce

an inflammatory phenotype in hepatocytes. World Journal of Gastroenterology, 18, 1732-1744. Mercer, T. R., Gerhardt, D. J., Dinger, M. E., Crawford, J., Trapnell, C., Jeddeloh, J. A., Mattick, J. S. & Rinn, J. L. 2012. Targeted RNA sequencing reveals the deep complexity of the human transcriptome. Nature Biotechnology, 30, 99-U147. Mitra, P., Pereira, L. A., Drabsch, Y., Ramsay, R. G. & Gonda, T. J. 2012. Estrogen receptor-alpha recruits P-TEFb to overcome transcriptional pausing in intron 1 of the MYB gene. Nucleic Acids Research, 40, 5988-6000. Morris, A. P., Voight, B. F., Teslovich, T. M., Ferreira, T., Segre, A. V., Steinthorsdottir, V., Strawbridge, R. J., Khan, H., Grallert, H., Mahajan, A., Prokopenko, I., Kang, H. M., Dina, C., Esko, T., Fraser, R. M., Kanoni, S., Kumar, A., Lagou, V., Langenberg, C., Luan, J. A., Lindgren, C. M., Muller-Nurasyid, M., Pechlivanis, S., Rayner, N. W., Scott, L. J., Wiltshire, S., Yengo, L., Kinnunen, L., Rossin, E. J., Raychaudhuri, S., Johnson, A. D., Dimas, A. S., Loos, R. J. F., Vedantam, S., Chen, H., Florez, J. C., Fox, C., Liu, C. T., Rybin, D., Couper, D. J., Kao, W. H. L., Li, M., Cornelis, M. C., Kraft, P., Sun, Q., Van Dam, R. M., Stringham, H. M., Chines, P. S., Fischer, K., Fontanillas, P., Holmen, O. L., Hunt, S. E., Jackson, A. U., Kong, A., Lawrence, R., Meyer, J., Perry, J. R. B., Platou, C. G. P., Potter, S., Rehnberg, E., Robertson, N., Sivapalaratnam, S., Stancakova, A., Stirrups, K., Thorleifsson, G., Tikkanen, E., Wood, A. R., Almgren, P., Atalay, M., Benediktsson, R., Bonnycastle, L. L., Burtt, N., Carey, J., Charpentier, G., Crenshaw, A. T., Doney, A. S. F., Dorkhan, M., Edkins, S., Emilsson, V., Eury, E., Forsen, T., Gertow, K., Gigante, B., Grant, G. B., Groves, C. J., Guiducci, C., Herder, C., Hreidarsson, A. B., Hui, J. N., James, A., Jonsson, A., Rathmann, W., Klopp, N., Kravic, J., Krjutskov, K., Langford, C., Leander, K., Lindholm, E., Lobbens, S., Mannisto, S., et al. 2012. Large-scale association analysis provides insights into the genetic architecture and pathophysiology of type 2 diabetes. Nature Genetics, 44, 981-+. Muller, D. A., Corrie, S. R., Coffey, J., Young, P. R. & Kendall, M. A. 2012. Surface Modified Microprojection Arrays for the Selective Extraction of the Dengue Virus NS1 Protein As a Marker for Disease. Analytical Chemistry, 84, 3262-3268. Naderi, A., Liu, J. & Francis, G. D. 2012. A feedback loop between BEX2 and ErbB2 mediated by c-Jun signaling in breast cancer. International Journal of Cancer, 130, 71-82. Naderi, A. & Meyer, M. 2012. Prolactin-induced protein mediates cell invasion and regulates integrin signaling in estrogen receptor-negative breast cancer. Breast Cancer Research, 14. Naderi, A., Meyer, M. & Dowhan, D. H. 2012. Cross-regulation between FOXA1 and ErbB2 Signaling in Estrogen Receptor-Negative Breast Cancer. Neoplasia, 14, 283-+. Ng, H. I., Fernando, G. J. P. & Kendall, M.A.F. 2012. Induction of potent CD8(+) T cell responses through the delivery of subunit protein vaccines to skin antigen-presenting cells using densely packed microprojection arrays. Journal of Controlled Release, 162, 477-484.


Publications cont. Nguyen, H. D., Wood, I. and Hill, M. M. 2012. A robust permutation test for quantitative SILAC proteomics experiments. Journal of Integrated OMICS, 2 2: 80-93.

predisposes to tumor formation and inflammation. PNAS: Proceedings of the National Academy of Sciences of the United States of America, 110 4: E285-E294.

Pimentel-Santos, F. M., Ligeiro, D., Matos, M., Mourao, A. F., De Sousa, E. V., Pinto, P., Ribeiro, A., Santos, H., Barcelos, A., Godinho, F., Cruz, M., Fonseca, J. E., Guedes-Pinto, H., Trindade, H., Brown, M. A., Branco, J. C. & Grp, C. S. 2012. ANKH and Susceptibility to and Severity of Ankylosing Spondylitis. Journal of Rheumatology, 39, 131-134.

Robinson, P. C. & Brown, M. A. 2012. The Genetics of Ankylosing Spondylitis and Axial Spondyloarthritis. Rheumatic Disease Clinics of North America, 38, 539-

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Collaborations Dr Antje Blumenthal

> Professor Proton Rahman – Memorial University, Newfoundland

> Associate Professor Christine Wells, University of Queensland – Innate immune recognition of Mycobacterium tuberculosis

> Professor Dongsheng Fang – Peking 3rd University, Beijing

> Dr Bernadette Saunders, Centenary Institute, Sydney – Macrophages and immune responses in tuberculosis

> Dr Francesco Ciccia and Professor Giovanni Triolo – University of Palermo, Italy

> Professor Jenny Stow, Dr Massimo Micaroni, Institute for Molecular Biosciences, University of Queensland – Molecular regulation of inflammatory responses to infection

> Dr Graham Radford-Smith, Queensland Institute of Medical Research, Brisbane

> Associate Professor Matt Sweet, Institute for Molecular Biosciences, University of Queensland; Dr Chris Engwerda, Queensland Institute for Medical Research – Novel regulators of antimicrobial responses during infection with intracellular pathogens

> Dr Martin Rudwaleit – Charite University, Berlin

> Professor Sally Dunwoodie, Victor Chang Memorial Institute, Sydney > Professor Carol Wicking, Institute for Molecular Biosciences, UQ > Associate Professor Andreas Zankl, Royal Children’s Hospital, Brisbane

> Professor Matthias Ernst, Ludwig Institute, Melbourne – Regulation of inflammation

> Professor Tony Merriman, University of Otago, Dunedin

> Professor Richard Lang, Cincinnati Children’s Hospital Medical Center, USA – Macrophages and novel regulators of inflammation

Dr Liliana Endo-Munoz

> Professor Robert Capon, The University of Queensland – Novel antimicrobials

> Associate Professor Robin Anderson, Metastasis Research Laboratory, Peter MacCallum Cancer Centre, Melbourne.

Professor Matt Brown

> Wilex AG, Munich, Germany

> Professor Stephen Robertson, University of Otago, Dunedin

> Dr Rodney Straw, Director, Brisbane Veterinary Specialist Centre

> Wellcome Trust Case Control Consortium – major global common disease genetics consortium. MAB principal investigator since 2003

> Professor Andreas Evdokiou, Michell-McGrath Breast Cancer Fellow & NHMRC Research Fellow, Head, Breast Cancer Research Unit (BCRU), Basil Hetzel Institute, The University of Adelaide

> International Genetics of Ankylosing Spondylitis Consortium – major global ankylosing spondylitis genetics consortium. MAB founded in 2002

> Dr Scott Sommerville, Department of Orthopaedics, The Wesley, Princess Alexandra and Greenslopes Hospitals, Brisbane

> Genetic Factors in Osteoporosis (GEFOS) – major global osteoporosis genetics consortium. MAB principal investigator since 2007

> Dr Warren Joubert, Department of Oncology, Princess Alexandra Hospital, Brisbane

> International Cervical Cancer Genetics Consortium – major global cervical cancer genetics consortium. Founded by IF and MAB in 2007

Professor Ian Frazer > Professor Phil Hugenholtz, Centre for Ecogenomics, The University of Queensland

> Australo-Anglo-American Spondyloarthritis Consortium (TASC) – NIH funded ankylosing spondylitis genetics consortium. MAB PI since 2007

> Professor Paul Lambert, McCardle Institute, Madison Wisconsin

> Anglo-Australasian Osteoporosis Genetics Consortium (AOGC) – major Anglo-Australian osteoporosis genetics consortium. Founded by MAB and ELD in 2007

> Professor Nick Hayward, QIMR

> Arthritis Genomics Recruitment Initiative In Australasia (AGRIA) – Arthritis Australia and Australian Rheumatology Association sponsored consortium for rheumatology case recruitment for genetics

Associate Professor Brian Gabrielli > Associate Professor Rick Sturm, IMB, University of Queensland > Professor Peter Soyer, Dermatology, University of Queensland > Dr Graeme Walker, QIMR

> Professor Paul Wordsworth – University of Oxford

> Dr Duncan Lambie, PA Hospital

> Professor John Reveille – University of Texas (Houston)

> Dr Nicole Cloonan, QIMR

> Professor (General) Huji Xu – Shanghai Second Military Medical University

> Professor Grant McArthur, Peter MacCallum Cancer Institute

> Professor Raj Thakker – University of Oxford

> Dr Cheryl Napier, Array Biopharma, Boulder CO. USA

> Professor Perry Bartlett – Queensland Brain Institute, UQ

> Dr Helen Rizos, Westmead Cancer Institute, Sydney

> Dr Manuel Ferreira – Queensland Institute of Medical Research, Brisbane

> Dr Nikolas Haass, Centenary Institute, Sydney


> Dr Petranel Ferrao, Peter MacCallum Cancer Institute

> Professor Richard Scolyer, Melanoma Institute Australia

Dr Emma Hamilton-Williams > Professor Linda Wicker, University of Cambridge, UK > Dr Andrew Cotterill, Mater Health Services > Professor Susan Wong, Cardiff University, UK > Professor Phil Hugenholtz, University of Queensland

Dr Michelle Hill > Professor David Whiteman, Prof Martin Lavin, QIMR

> Professor Ian Frazer, Dr James Wells and Dr Stephen Mattarollo (UQDI, UQ) > Professor Hani Gabra, Professor of Medical Oncology, Imperial College, London UK > Professor Jesse Martinez, Chief Scientific Officer of the Arizona Cancer Centre, University of Arizona, USA > Dr Jim Coward, Medical Oncology Specialist, Mater Medical Research Institute

> Professor Frank Gardiner, UQCCR

Dr Gethin Thomas

> Associate Professor Andrew Barbour, SOM, UQ

> Professor Ranjeny Thomas, UQDI, TRI

> Professor Robert Parton, Prof Alpha Yap, Prof Rohan Teasdale, Dr Melissa Davis, IMB, UQ

> Professor Malcolm Smith, Flinders Medical Centre, South Australia

> Professor Matt Trau, AIBN, UQ

> Dr Fernando Pimentel-Santos, Faculdade de Ciências Médicas da Universidade Nova de Lisboa, Lisboa, Portugal

> Dr Benjamin Schulz, SCMB, UQ > Dr David Chen, Griffith University > Dr Kim-Anh Le Cao, QFAB, UQ > Dr Caroline O’Leary, Dr Helle Bielefeldt-Ohmann, School of Veterinary Science, University of Queensland

> Dr Roman Fischer and Professor Paul Bowness. Centre for Cellular and Molecular Physiology, Nuffield Department of Clinical Medicine, Oxford University > Dr Allison Pettit, University of Queensland

> Dr Rod Straw, Australian Animal Cancer Foundation

> Dr Martin Rudalweit and ASAS (Assessment of Spondyloarthritis International Society)

> Dr Peter Mollee, Dr Patricia Renault, Dr Margot Lehman, Princess Alexandra Hospital

> Dr Manuel Fernandez-Rojo, IMB, UQ

> Dr Marie-Odile Parat, School of Pharmacy, UQ > Professor Judith Clements, Professor Pamela Russell, Professor Dietmar Hutmacher, Dr Patrick Ling, IHBI QUT

Dr Tony Kenna > Professor Matt Brown (UQDI) > Professor Ranjeny Thomas (UQDI) > Dr Francesco Ciccia (University of Palmero, Italy) > Associate Professor Mark Exley (Harvard University) > Dr Katherine Kadzierska (University of Melbourne) > Professor Malcolm Smith (Flinders Medical Centre, Adelaide)

Dr Stephen Mattarollo > Mark Smyth (PeterMac, VIC) > Dale Godfrey (Melbourne University, VIC) > Ricky Johnstone/Alison West (PeterMac, VIC) > Laurence Zitvogel / Yuting Ma (INSERM, France) > Ian Hermans / Robert Weinkove (Malaghan Institute, NZ)

Dr Fiona Simpson > Professor Bryan Burmeister. Director of Radiation Oncology, PA Hospital > Associate Professor Nicholas Saunders. Epithelial Cancer Research, UQDI, TRI

> Dr Gary Leong, IMB, UQ > Dr Michaela Kneissel, Director Bone Metabolism Research, Musculoskeletal Disease Area, Novartis Institutes for BioMedical Research, Basel, Switzerland > Professor Tibor Glant, Professor, Director, Section of Molecular Medicine, Department of Orthopedic Surgery, Rush University Medical Center, Chicago, USA > Raj Thakker, May Professor of Medicine, Academic Endocrine Unit, Nuffield Department of Clinical Medicine, University of Oxford, UK

Dr James Wells > Professor Ian Frazer, Chief Executive Officer and Director of Research for the Translational Research Institute Pty Ltd > Assistant Professor Nick Saunders, Head of the Translational Research Unit at the Princess Alexandra Hospital and Head of the Epithelial Cancer Cluster at The University of Queensland Diamantina Institute > Professor Peter Soyer, Chair of the UQ Dermatology Research Centre, and Director of the Princess Alexandra Hospital Dermatology Department > Professor Chris Evans, Center for Orthopedic Research, Harvard Medical School, Boston, USA > Dr Fiona Simpson, Research Fellow, The University of Queensland Diamantina Institute

> Professor Peter Soyer. Director of Dermatology, PA Hospital

> Associate Professor Raymond Steptoe, The University of Queensland Diamantina Institute

> Associate Professor Sandro Porceddu, Senior Radiation Oncologist, PA Hospital

> Associate Professor Michael Freeman, The Skin Centre, Pindara Private Hospital, Gold Coast

> Dr Matthew Foote, Radiation Oncology, PA Hospital

> Professor Lutz Gissmann and Dr. Daniele Viarisio, Deutsches Krebsforschungszentrum Zentrale Spektroskopie, Germany

> Professor Philip Robinson, Children’s Medical Research Institute and University of Sydney


Granting Bodies and Donors In 2012, a number of gifts were received to support cancer research, investigations into genetic diseases, assistance for early to mid career researchers and those training to become clinician–scientists, support for PhD students and funds for our SPARQ-ed program (Students Performing Advanced Research in Queensland) to assist school students in their pursuit to become the next generation of medical researchers. Gifts and grants from non profits organisations also provided valuable assistance in the area of autoimmune diseases such as arthritis and type 1 diabetes. In November, Lions International President, Wayne Madden

from Indiana, USA visited UQDI. In 2012, Lions Medical Research Foundation continued its generous support to the SPARQ-ed program over the next five years. This support provides tremendous assistance in delivering the program to budding scientists in the new teaching laboratories at the Translational Research Institute (TRI) facility in 2013. Photo (L-R): Professor Matt Brown, Mr Wayne Madden, President, Lions Clubs International, Dr Peter Darben, Coordinator, SPARQ-ed, Mr Lou Onley, Council Chairman, Lions Multiple District 201, Mr Peter Donghi, Chairman, Lions Medical Research Foundation, and Professor Ian Frazer.

The University of Queensland Diamantina Institute thanks its benefactors who partner us in research. Abbott Australasia Pty Ltd

Perpetual Trustees

Arthritis Australia

Prostate Cancer Foundation of Australia

Arthritis Queensland

Queensland Government contentcfm?id=8212

Association for International Cancer Research

Queensland Health Australian Research Council research/ccg_default.asp Queensland Pharmacy Research Trust Elizabeth Maisie Handy Bequest Rebecca L. Cooper Medical Research Foundation Juvenile Diabetes Research Foundation International Sanofi-Aventis Australia Pty Ltd Lions Medical Research Foundation Stockholm School of Economics 69-health-projects/120-lmrf.html National Health and Medical Research Council The Cancer Council Queensland National Institutes of Health UniQuest Pty Limited PA Research Foundation Wellcome Trust UK


Grants CIA Title

Grant Type

Allan McRae

Competitive NHMRC Project Grant

Inheritance of DNA methylation state in humans

Granting Agency

Grant Type

Total yrs 2012-2013

TOTAL $ $277,125

Andre Calder, Network for Advancing Sports Science Competitive Australian Collaborative Matthew Brown, in Australia Grant Government Research Maria A. Networks (CRN) Fiatarone Singh, Facilitated Nick Brown Funding

2012-2014/15 $2,000,000

Angus Harding

Discovery Project- Multiscale stochastic modelling of tumour robustness

Competitive Grant

ARC Project



Angus Harding

Foundation Research Excellence Award- The role of the mutator phenotype in the evolution of adult brain tumour therapy resistance.

Competitive Grant

The University Project of Queensland



Angus Harding, Brent Reynolds, Brian Gabrielli

The role of tumour-initiating cells in glioma

Competitive NHMRC Project Grant



Competitive Grant




Anne-Sophie Postdoctoral Research Fellowship- Bergot Skin immune sentinels: roles and functions of immunoregulatory T cells in HPV16 skin infection in mice

The University of Queensland


Antje Blumenthal, Macrophage interactions with Leishmania Other Christian Engwerda, donovani: towards an understanding Matthew Sweet of effective host defence against intracellular pathogens

Australian Project Infectious Disease Research Centre (AID)


Antje Blumenthal

The University of Queensland



Brian Gabrielli Functional assessment of new melanoma Competitive Association Project genomic mutations Grant for International Cancer Research



Brian Gabrielli, Defining a response to UV exposure Competitive Cancer Project Sandra Pavey that is defective in melanoma Grant Council Queensland



Brian Gabrielli Senior Research Fellowship Grant

Competitive NHMRC



Brian Gabrielli

Competitive NHMRC Project Grant



Emma Duncan New Approaches for Gene Mapping in Osteoporosis

Competitive NHMRC Project Grant



Emma Hamilton-Williams

A novel role for the IL-2 pathway in type-1-diabetes.

Competitive NHMRC Project Grant



Fiona Simpson-Fraser


Commercial UniQuest Project


Fiona Simpson-Fraser

CDA-Biomedical (R. Douglas Wright Biomedical CDA)- Endosomal tubule formation in health and disease

Competitive NHMRC Grant


Gethin Thomas

The Clitheroe Foundation Grant- Effect of Competitive modulating prostaglandin signalling in Grant ankylosing spondylitis

UQ Postdoctoral Research Fellowship: The role of Wnt proteins in inflammation

Synthetic lethality screen targeting a defective checkpoint in melanoma

Competitive Grant




Arthritis Project Foundation of Australia

Gethin Thomas Assessment of novel treatments in Competitive Rebecca L Equipment ankylosing spondylitis Grant Cooper Medical Research Foundation

$25,000 $362,000






Grants CIA Title

Grant Type

Granting Agency

Grant Type

Gethin Thomas, Novel treatment approaches to prevent Alison Pettit joint fusion in ankylosing spondylitis

Competitive NHMRC Project Grant



Gethin Thomas, Regulatory RNAs underlying genetic Marcel Dinger, associations with ankylosing spondylitis Michael Opheasant, Brooke Gardiner

Competitive NHMRC Project Grant



Graham Leggatt, James Wells with Coridon

Development of therapeutic HPV Other polynucleotide vaccine


Grant McArthur, Brain Gabrielli, Petranel Ferrao

Determining Predictors of Sensitivity to Chk Inhibitors in Metastatic Melanoma

Cancer Australia Project

Competitive Grant


Total yrs



Hans Soyer, Hunting for viruses that cause skin cancer Ian Frazer, Matt Brown

Competitive PA Research Project Grant Foundation


Ian Frazer

Competitive Grant


Infection and immunity in squamous skin cancer

Bupa Health Project Foundation






Ian Frazer Queensland Head and Neck Cancer Competitive QLD Other Centre Grant Government Smart Futures Co-Investment Fund + PAH (Private practice Trust Funds) + Atlantic Philanthropies



Ian Frazer, James Wells



Ian Frazer, Novel Interventions against HPV-associated Competitive National Project Paul Lambert, neoplasia ( NCI-MMHCC-Integration Grant Institutes Karl Munger of mouse models into human of Health cancer research) USA



Ian Frazer, HPV involvement in squamous cancer Other Australian Project Peter Soyer, Infectious Matthew Brown Disease Research Centre (AID)


Ian Frazer, Investigating the mechanisms by which Competitive Purnima Bhat immune cells (particularly T cells and Grant NKT cells) target and eliminate cells expressing tumour antigens.





Fellowship in skin cancer research in Other Perpetual Queensland Trustees

Cancer Project Council Queensland

Ingrid Hickman Obesity-related inflammation and insulin Competitive Lions resistance in chronic liver disease: Grant Medical Exercise and diet as treatment options Resesarch Foundation James Wells

UQ New Staff Research Start-Up Fund- Characterisation of T-cell immunity in Squamous Cell Carcinoma




Competitive Grant

The University Project of Queensland



James Wells Early Career Researcher Grant- Manipulating immune tolerance to improve therapeutic vaccine outcome

Competitive Grant

The University Project of Queensland



Janin Hofmann Postdoctoral Research Fellowship: The role of different dendritic cell subsets in the clearance of papillomavirus infection

Competitive Grant

The University of Queensland






Liliana Endo-Munoz Pathfinder- Validation in vivo of two novel Other therapeutic targets for osteosarcoma




CIA Title

Grant Type

Liliana Endo-Munoz Early Career Researcher + Elizabeth Maisie Competitive Handy Bequest- Identifying the inherent Grant factors that drive the spread of osteosarcoma tumour cells to the lungs

Granting Agency

Grant Type

The University Project of Queensland

Total yrs




Marcel Dinger NHMRC Career Development Award: Noncoding RNAs in neural stem cell differentiation

Competitive NHMRC Grant




Marcel Dinger

Competitive Grant

QLD Government




Competitive Grant

The University Project of Queensland

Smart Futures Fellowship: Functional screening of long noncoding RNAs: novel insights into the molecular basis of mammalian development and disease

Marcel Dinger New Staff Research Start-up fund- Characterization of long noncoding RNAs in melanoma



Mark Kendall, International Needle-free Vaccination Competitive Queensland Program Ian Frazer, Alliance (INVax) Grant Government Michael Roberts Smart State National and International Research Alliances

2009-2012 N/A

Matt Brown Automated electrophoretic bioanalysis + UQDI


Competitive NHMRC Equipment Grant


Matthew Brown, GEFOS - Genetic Factors for Osteoporosis Competitive NHMRC- Project John Eisman, Grant European Graeme Jones, Union Geoffrey Nicholson, Richard Prince, Ego Seeman



Matthew Brown




Senior Principal Research Fellowsip- Identification of common and rare human disease genes

Competitive NHMRC Grant

Matthew Brown Project 2 - A multicenter uncontrolled Commercial extension study evaluating the long term safety and efficacy of SAR153191 in patient with Ankylosing Spondylitis (AS)

Sanofi Aventis Australia


2010-2015 N/A

Matthew Brown

Abbott Australasia


2009-2013 N/A

A multi-centre study of the efficacy and Commercial safety of the human anti-TNF monoclonal antibody adalimumab in subjects with axial spondyloarthritis

Matthew Brown, Linkage Project- Sino-Australian Huji Xu, Neurogenetics Initiative Parry Bartlett, Robyn Wallace, Peter Visscher, Bryan Mowry

Competitive Grant

Matthew Brown, The Diamantina Individualised Oncology Competitive Ian Frazer, Care Centre (DIOCC) Grant Maher Gandhi, Devinder Gill, Michelle Hill, Paula Marlton, Jennifer Martin, Nicholas Saunders, Nicholas Shaw, Peter Soyer, Euan Walpole

ARC Project


ACRF- Australian Cancer Research Foundation


Cancer Research Grant




Grants CIA Title

Grant Type

Granting Agency

Grant Type

Total yrs




Association for Project International Cancer Research



Michelle Hill, Robert Parton, Lisa Chopin

Young Investigator Grant- A systems biology Competitive Prostate Project approach to eluciadte the molecular Grant Cancer mechanisms of caveolin-1 and statins in Foundation prostate cancer progression and metastasis of Australia



Nicholas Saunders

Dysregulated H3K27me3 contributes to Competitive differentiation-insensitivity and Grant squamous cell carcinoma development





Michelle Hill CDA, Biomedical-Molecular mechanisms Competitive NHMRC underlying the positive associations Grant between male gender & leptin with Barrett’s oesophagus Michelle Hill, Modulating cholesterol-dependent lipid Competitive Colleen Nelson, rafts and caveolin in prostate Grant Robert Parton, cancer therapy Cheok Soon Lee.

Cancer Project Council Queensland

Nicholas Saunders Senior Research Fellowship: Translating Competitive Cancer basic science into better cancer treatments Grant Council Queensland Nicholas Saunders, Smart Futures Fund, QLD-Chinese Charlie Chen Academy of Sciences Biotechnology Project- Novel treatments for oral cancers



Competitive Grant

Queensland Project Goverment



Development of nanoparticle mucosal Competitive delivery systems for siRNA-based Grant cancer therapies

Cancer Project Council Queensland



Competitive NHMRC Project Grant



Peter Visscher Explaining the dark matter of genome-wide Competitive NHMRC Project association studies for complex disease Grant



Peter Visscher NHMRC Research Fellowship (SPRF)

Competitive NHMRC Grant



Peter Visscher, Bruce Weir

Statistical and Quantitative Genetics (NIH Grant administered by the University of Washington) P01

Competitive NIHUSA Program Grant



Peter Visscher, Bruce Weir

Theoretical Population Genetics (NIH Subcontract administered by the University of Washington) R01

Competitive NIHUSA Project Grant



Nigel McMillan, Harendra Parekh, Tarl Prow, Stephen Blake

Nigel McMillan, RNAi and the Immune System Thomas Preiss, Raymond Steptoe


Peter Visscher Statistical genetic analyses of social Other The Economic Project and economic outcomes Research Institute (ERI) Stockholm School of Economics


Ranjeny Thomas Future Fellowship




Ranjeny Thomas Professorial Chair Donation Arthritis Queensland




Ranjeny Thomas






Competitive Grant

Infrastructure grant-Pathogenesis of a new Competitive PA Research mouse model of ankylosing spondylitis Grant Foundation

Ranjeny Thomas Optimisation of a particulate formulation for Other antigen-specific tolerance in rheumatoid arthritis



UniQuest Project


CIA Title

Grant Type

Granting Agency

Grant Type

Total yrs


Ranjeny Thomas, Program Grant- Immunological therapies for Competitive NHMRC Program Geoff Hill, cancer, chronic infection and autoimmunity Grant Ian Frazer, Matt Brown, Mariapie Degli-Eposti



Ranjeny Thomas, Pathogenesis of a new mouse model of Michael McGuckin, ankylosing spondylitis Merja Ruutu

Competitive NHMRC Project Grant



Raymond Steptoe

Future Fellowship: A new approach to reversing and preventing immune-mediated diseases.

Competitive Grant



Raymond Steptoe

Mechanisms of rapid memory CD8+ T-cell inactivation

Competitive NHMRC Project Grant



Sandra Pavey

UQ Postdoctoral Fellowship for women (part-time):Defining the transcriptional and translational responses to UV exposure that is defective in melanoma

Competitive Grant

The University of Queensland




Stephen Blake UQ Postdoctoral Research Fellowship: Enhancing adaptive immune responses against tumour cells through targeted RNA interference

Competitive Grant

The University of Queensland




Sunny Liu, NHMRC Australia-China Exchange Ian Frazer Fellowship: T cell trafficking and effective immunotherapy for cancer

Competitive NHMRC Grant




Tao Liu, Marcel Dinger

Competitive NHMRC Project Grant



Thomas Gonda MYB regulation of differentiation and Competitive Association Project apoptosis in breast cancer: Grant for Targets and targeting International Cancer Research



Tom Gonda, Defining the Myb-p300 dependent Brooke Gardiner transcriptional program in myeloid leukaemia

Competitive NHMRC Project Grant



Tom Gonda, Mark Smythe

Competitive NHMRC Project Grant



Identification and characterization of a novel long intergenic noncoding RNA for the therapy of neuroblastoma (NHMRC Project Grant administered by the University of New South Wales)

Targeting of the Myb-p300 Interaction in Myeloid Leukaemogenesis


Tony Kenna Functional Role of IL-23R+ gamma delta Competitive Arthritis T cells in Ankylosing Spondylitis Grant Foundation of Australia -The AFA-ARA Heald Fellowship funded by Vincent Fairfax Family Foundation




Won Jae Lee Validation of genes potentially involved Competitive QLD Project in early stage melanoma using Grant Pharmacy immunohistochemistry Trust Grant



Won Jae Lee


Mechanisms regulating cell cycle progression in response to UV radiation

Competitive NHMRC Grant





Research Support Services Staff Jodi Clyde-Smith Deputy Director (Operations)

Maria Cummings Human Resources Officer

Peter Gough IT Officer

Juan Cooper Deputy Director (Facilities)

Camille Gillen Human Resources Officer

Scott Bourke IT Officer

Andrew Pentland Deputy Director (Advancement)

Sarah Romig Postgraduate Administration Officer

Alison Dahler Facilities Manager

Caroline Dunne Acting Deputy Director (Operations)

Kylie Hengst Grants and Ethics Manager

Janelle Scown Floor Manager

Bruce Wyse Business Development Manager

Erin Ahern Acting Grants and Ethics Manager

Deanne Mitchell Floor Manager

Umit Ozer Finance Manager

Sarah Macaione Executive Assistant to Director

Kaltin Ferguson Floor Manager

Leanne Conway Finance Officer

Katie Shalders Institute Administrator

Colin Nachmann Stores Officer

Nicole Chandler Travel and Administration Officer

Fiona McMillan Science Writer

Rosemary Scott Stores Officer

Caroline Davy Marketing and Communications Manager

Manu Trabi Acting Science Writer

Sandrine Roy Microscopy Manager

Elena Tesan Human Resources Manager

Darren D’Souza IT Manager

Nana Sunn Preclinical Imaging Facilities Manager

Marcus Schull IT Officer

Michael Rist Flowcytometry Manager






Other Expenditure

2% 11%



Consumables Salaries


2012 Diamantina Institute Expenditure




Grant & Funding Source


Financials External Funding, Fellowships and Scholarships Abbott Australasia Pty Ltd Arthritis Australia

44,683 70,000

Arthritis Queensland


Association for International Cancer Research


Australian Research Council


Elizabeth Maisie Handy Bequest


Juvenile Diabetes Research Foundation International


Lions Medical Research Foundation


National Health and Medical Research Council National Institutes of Health PA Research Foundation Perpetual Trustees Prostate Cancer Foundation of Australia Queensland Government Queensland Health Queensland Pharmacy Research Trust

5,303,837 296,627 36,600 200,000 124,262 1,274,000 92,735 1,500

Rebecca L. Cooper Medical Research Foundation


Sanofi-Aventis Australia Pty Ltd


Stockholm School of Economics


The Cancer Council Queensland


UniQuest Pty Limited


Wellcome Trust UK




DIAMANTINA INSTITUTE The University of Queensland Diamantina Institute Level 7, Translational Research Institute 37 Kent St, Woolloongabba, QLD Australia 4102 Phone +61 7 3443 6999 Email Web The University of Queensland Diamantina Institute thanks our benefactors who partner us in research. CRICOS Provider Number 00025B

UQ Diamantina Institute Annual Report 2012  
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