HGSA2017 - Speakers

HGSA2017 - Speakers




Dr Jehannine Austin (Canada)
Co-Sponsored by ASGC

Dr Jehannine Austin was President of the National Society of Genetic Counselors (NSGC) in 2016, and is an Associate Professor in Psychiatry & Medical Genetics at the University of British Columbia in Vancouver, Canada, where she holds the Canada Research Chair in Translational Psychiatric Genomics. Her research work is centered around using a clinical genetics perspective to inform the development of novel biological and non-biological interventions to improve outcomes for individuals with psychiatric disorders and to support their families. She investigates the effects of genetic counseling for people with psychiatric disorders, and in addition to writing a book on this subject, founded the worlds first specialist psychiatric genetic counseling service, which has now helped about 600 families in British Columbia. She received the 2013 International Leadership award from NSGC, and in 2015 received the inaugural professional practice, innovation and advocacy leadership award from the Canadian Association of Genetic Counselors. In 2016, she was elected to the College of the Royal Society of Canada.

Prof. Rossa W.K. Chiu (Hong Kong)
Co-Sponsored by ASDG

Rossa Chiu is the Choh-Ming Li Professor of Chemical Pathology and Assistant Dean (Research) at the Faculty of Medicine, The Chinese University of Hong Kong. She is an Honorary Consultant Chemical Pathologist at the New Territories East Cluster of Hospitals, Hong Kong. Prof Chiu’s research focuses on the development of novel disease diagnostic approaches. She has developed non-invasive methods based on maternal blood analysis for the prenatal assessment of Down syndrome which has led to a worldwide change in clinical practice. Recently, she has been investigating the detection of cancer-derived DNA in human plasma with an aim to develop non-invasive blood tests for the early detection of cancer. To date, Prof Chiu has published over 140 peer-reviewed research articles and has over 170 granted patents or patent applications. Prof Chiu has received a number of awards for her research, including the 2012 China Women in Science Fellowship, the 2013 American Association of Clinical Chemistry Outstanding Scientific Contributions for a Young Investigator and the 2016 Croucher Senior Medical Research Fellowship. She is currently a member of the Board of Directors of the International Society of Prenatal Diagnosis. She was the President of the Hong Kong Society of Clinical Chemistry between 2004 to 2005.

Dr David Glahn (USA)

Dr David Glahn joined the Olin Neuropsychiatry Research Center, Institute of Living, and the Department of Psychiatry, Yale University School of Medicine in October of 2008. He received his doctorate in psychology from the University of Pennsylvania in 2000 and completed a post-doctoral fellowship at the University of California at Los Angeles (UCLA). From 2002 until 2008, Glahn was part of the Department of Psychiatry and the Research Imaging Center, University of Texas Health Science Center San Antonio. Glahn’s research focuses on elucidating the neurobiological roots of major mental illnesses through the integration of cognitive neuropsychological, functional and structural neuroimaging, and behavioral and molecular genetic approaches. The ultimate goals of this research is the identification of genes involved in affective and psychotic illnesses as well as genes that influence non-pathological brain structure and function. Localization of genes involved in mental illness should significantly contribute to an understanding of the underlying biology of these complex diseases, which in turn should improve future treatments and create the potential for prevention strategies.

Prof Raoul Hennekam (Netherlands)
Co-Sponsored by AACG

Raoul Hennekam is Professor of Pediatrics and of Translational Genetics in Amsterdam and Honorary Professor at the Faculty of Brain Sciences of the Institute of Neurology, University College of London. His main interest is obtaining information on the natural history of syndromes by characterizing groups of patients with syndromes, and evaluating these patients clinically, molecularly, cognitively and from the behavioral angle. Knowledge of the natural history of syndromes and access to large groups of patients are essential in studying the effects of various management regimens. A further major interest is molecular dysmorphology, combining detailed phenotyping including imaging techniques, such as 3D facial scanning and neuroimaging, with results of Next Generation Sequencing techniques. Other specific disorders studies with his group are autism and related disorders, connective tissue disorders and disorders associated with aging. Prof. Hennekam is the senior editor of the Oxford Monograph “Gorlin’s Syndromes of the Head and Neck”, the major text in this specific field.

Dr Jan H.J. Hoeijmakers (Netherlands)

Dr Jan Hoeijmakers started the molecular analysis of DNA repair in mammals at the Dept. of Genetics (Erasmus Univ. Rotterdam). He cloned the first of many human DNA repair genes, allowing elucidation of the underlying mechanisms and the basis of human repair syndromes, such as the cancer-prone xeroderma pigmentosum disorder and the neurodevelopmental Cockayne syndrome. His team generated numerous mouse repair mutants and discovered a strong connection with accelerated aging and a trade-off between cancer and aging. These mutants appeared superior models for Alzheimer’s disease addressing a tremendous unmet medical need. Rapid accumulation of unrepaired DNA damage causing premature cell death and senescence also triggered an anti-aging ‘survival response’ which enhances maintenance resembling the longevity response by dietary restriction. Remarkably, subjecting these mice to actual dietary restriction tripled(!) their lifespan, drastically retarding DNA damage accumulation and accelerated aging most impressively neurodegeneration. These findings open perspectives for preventive interventions for healthy aging, reducing cancer and many aging-related diseases including neurodegeneration, and for therapy of human genome instability syndromes.

National Speakers

Professor Lyn Griffiths (QLD)

Professor Lyn Griffiths is the Executive Director of the Institute of Health and Biomedical Innovation (IHBI), the largest inter-disciplinary research institute at the Queensland University of Technology (QUT). She is a molecular geneticist with over 21 years experience studying human complex gene disorders with specific expertise in human gene mapping and gene expression analyses, including migraine, cardiovascular disease and several types of cancer.

Research area: Professor Griffiths leads the Genomics Research Centre (GRC). Established in 1997, the GRC is a well equipped research centre including principal researchers, postdoctoral scientists, research assistants, nurses, postgraduate and honours students, and is funded by national competitive grants and industry. The main focus of research in the GRC is the identification of genes involved in common human disorders and the translation of this research into new diagnostics and therapeutics. Prof Griffiths has established significant genomic population resources for her research, including a unique case-controlled, multigenerational pedigree and genetic isolate from Norfolk Island. Recent studies at the GRC have mapped several migraine, CVD, MS and cancer gene loci and have implicated a number of candidate genes in disease susceptibility.

Research interests:

  • Gene profiling
  • Genetic analysis
  • Clinical Trials


Dr Jim McGill (QLD)

Dr Jim McGill is a paediatrician, metabolic physician, clinical geneticist and biochemical genetics pathologist.
Dr McGill is the Director of the Department of Metabolic Medicine, Lady Cilento Children’s Hospital in Brisbane and works as a biochemical genetics pathologist at Pathology Queensland and Mater Pathology in Brisbane.
Dr McGill trained in paediatrics in Queensland and Victoria, in clinical genetics and metabolic medicine in Melbourne and Montreal, Canada and more recently in biochemical genetics pathology in Queensland. He has 30 years clinical and laboratory experience in newborn screening.
Dr McGill has been a member of the HGSA-RACP Division of Paediatrics Joint Subcommittee on Newborn Screening for 25 years and is a member of the Newborn Bloodspot Screening Working Group of the Standing Committee on Screening.

Dr William Brooks (NSW)

Dr Bill Brooks has worked as a clinician-researcher with families with the hereditary forms of Alzheimer’s disease and other dementias since 1988, initially at Concord Hospital and The University of Sydney, and more recently at Neuroscience Research Australia in Randwick. In collaboration with other researchers, including Peter Schofield, John Kwok, Glenda Halliday and Jillian Kril in Sydney, Colin Masters in Melbourne and Ralph Martins’ group in Perth, he has helped characterize Australian families clinically, genetically and neuropathologically. The first gene for familial Alzheimer’s disease was described in 1991, followed soon after by other genes for Alzheimer’s disease and familial frontotemporal dementia. Since 2009 Australian families have been participating in an international biomarker study, the Dominantly Inherited Alzheimer Network (DIAN), with funding from the US National Institutes of Health. This work has led to prevention trials, which are now underway with sites in Sydney, Melbourne and Perth.

Prof Matthew Brown (QLD)

Professor Matt Brown is a clinician-scientist who initially trained as a rheumatologist before heading off into a career in immunogenetics. His ground breaking work has dissected the genetic causes of the disease ankylosing spondylitis, resulting in widely recognised new treatments. His interests in translating genomics into clinical applications has led to innovations linking genetic research to patient cancer care; specifically through personalised medicine approaches for people with leukemia, lung, gastric, head and neck, and colorectal cancer. He has many international collaborations with universities, hospitals and researchers and is currently establishing a research and clinical provision facility in China with one of the country's largest hospitals. Former Director of the University of Queensland, Diamantina Institute. He is a Fellow of both the Australian Academy of Sciences and the Australian Academy of Health and Medical Sciences, and previously a Professor and Fellow of the University of Oxford.

Prof Jamie Craig (SA)

Prof Jamie Craig is a Consultant Ophthalmologist specializing in the care of glaucoma patients. He is a clinician-scientist with a strong track record in clinical and genetic research. As a NHMRC Practitioner-Fellow, he seeks to translate his laboratory-based research into clinical practice. Specific research interests include the genetic susceptibility to all forms of glaucoma, congenital cataract, and diabetic retinopathy. He has skills in clinical diagnosis and disease management, as well as having made important discoveries on the genetic etiology of glaucoma and other ocular conditions. He is experienced in patient recruitment, and has pioneered strategies to develop a National Registry of cases with extremely severe vision loss from glaucoma: The Australian and New Zealand Register of Advanced Glaucoma (ANZRAG). This work has led to genome-wide association studies for identification of genes associated with glaucoma susceptibility. A similar approach is now underway for blindness due to diabetic retinopathy: Registry of Advanced Diabetic Retinopathy in Australia (RADAR). Having completed a D.Phil. in the analysis of complex traits by genome wide linkage approaches, he maintains a detailed understanding of strategies to enhance power by careful case selection, and the utilization of clinical information to refine analyses. Being responsible for direct patient care, he attaches a high priority to applying research outcomes to better models of patient care.

Ms Kate Dunlop (NSW)

Kate Dunlop is the Director of the Centre for Genetics Education NSW Health. The Centre’s education programs are based around three key areas: Clinical Genetics and Genomics, GP Education and Public Health and its website provides fact sheets, resources and a National Database of genetics services and support groups [www.genetics.edu.au]. Kate is a graduate of the University of Sydney with a BApp Science, Grad Dip in Adult Education and a Masters in Public Health with over 25 years experience in providing education to a wide range of audiences including patients, health professionals, students and the community. Her current focus is on identifying educational needs and the engagement of non-genetics trained health professionals in genetics and genomics. Kate is a member of the Inter-Society Coordinating Committee for Practitioner Education in Genomics (ISCC) National Institutes of Health, Chair of Genetic Alliance Australia, Clinical Lecturer University of Sydney and is involved in a range of collaborative research projects.

Professor Jürgen Götz (QLD)

Professor Jürgen Götz is the Foundation Chair of Dementia Research and Director of the Centre for Ageing Dementia Research (CADR) at the Queensland Brain Institute (QBI), The University of Queensland. Götz studied biochemistry at the University of Basel, and earned his PhD in immunology in the laboratory of Nobel Laureate Georges Köhler at the Max-Planck-Institute in Freiburg, Germany (1989). After postdoctoral work at UCSF and the Preclinical Research Division at Novartis Ltd in Basel, he established his reputation in the Alzheimer's field as a research group leader at the University of Zürich (1994–2005). From 2005 - 2012, before accepting his new position at the University of Queensland, he has been Chair of Molecular Biology and Director of the Alzheimer's and Parkinson's Laboratory at the Brain and Mind Research Institute of the University of Sydney. Götz uses transgenic animal models to contribute to a better understanding of the role of tau and amyloid-beta in Alzheimer's disease and related dementias.

Prof Sean Grimmond (VIC)

Prof Sean Grimmond is newly appointed Director of Cancer Research the University of Melbourne Centre for Cancer Research and the Bertalli Chair in Cancer Medicine. He holds a Genetics degree from University of New England, a PhD in Pathology from the University of Queensland and became a Scientific Fellow of The Royal College of Pathologists of Australasia in 2011. Previous appointments include Founding Co-Chair of the Scottish Genomes Partnership (2014-2015), Founding Director of the Queensland Centre for Medical Genomics (2009-2013) and Professor of Genomics at the University of Queensland (2010).

Sean is a pioneer of whole genome and transcriptome analysis of cancer patients at scale, and has keenly pursued the underlying root-causes and key driver mutations behind many challenging types of cancer for many years. He has led Australia’s International Cancer Genome Consortium efforts since 2009 and engaged in foundational genomic discovery programs into Pancreatic, Ovarian, Oesophageal, Neuroendocrine cancers and melanoma. Since establishing the University of Melbourne Centre for Cancer Research in 2016, his research has firmly focused on testing the clinical utility of genomics to improve the patient outcome through the advancement of genomic pathology, computational oncology and innovative cancer therapies.

Dr Steven Lane (QLD)

Dr Lane is Head of the Gordon and Jessie Gilmour Leukaemia Research Laboratory at the QIMR Berghofer Medical Research Institute. He maintains an active clinical role as a clinical haematologist at the Royal Brisbane and Women’s Hospital (RBWH) where he regularly treats patients with leukaemia and related blood cancers. Formerly, he was a Fulbright Scholar at Harvard Medical School, a postdoctoral fellow of the Leukaemia Foundation of Australia, a NHMRC Career Development Fellow and is now an inaugural CSL Centenary Fellow. He has published more than 50 highly cited articles, including seminal works in cancer research detailing approaches to target cancer stem cells to improve treatment outcomes.

Dr Nicole Martin (QLD)

Nicole Martin has worked in Cytogenetic laboratories in both the public (Queensland Health) and private sectors (Virtus Health) and is currently the Chief Scientist in Genetics for Virtus Diagnostics, the Pathology arm of Virtus Health. With an interest in education, she has been active in teaching medical students in the old undergraduate medical course and now in the postgraduate medical course for the University of Queensland. She also presents at GP master classes run by the Queensland Fertility Group.

Her interests when in the public sector encompassed prenatal diagnosis, neonatology and dysmorphology. Now in the IVF industry, she has helped developed testing for then investigation of genetic causes of infertility, with the introduction of sperm FISH and several NGS gene panels.

Prof Sylvia Metcalfe (VIC)

Professor Sylvia Metcalfe obtained a BSc (Hons) and a PhD in biochemistry from the UK, and has undertaken biomedical laboratory based-research in London, New York and Melbourne in a number of different research areas. Since 1997 her research interests have moved away from the laboratory, and now include the understanding of genetics by health professionals and the community especially in terms of the societal and personal implications of genetic technologies, genetic screening and testing, and the impact of genetic diagnosis. She teaches human genetics to a range of undergraduate and postgraduate students at The University of Melbourne, as well as providing continuing professional development nationally and internationally. She has produced a wide range of educational material, comprising multimedia, print and online resources including Genetics in Family Medicine: The Australian Handbook for General Practitioners. She has authored more than a 100 peer-reviewed publications. She has roles on various Murdoch Childrens Research Institute and University of Melbourne committees, as well as committees of several national and international professional societies. She is the co-founder of the International Genetics Education Network.

Prof Grant Montgomery (QLD)

Professor Grant Montgomery was born in New Zealand, completed PhD studies in Animal Science at Massey University and post-doctoral research in France. In 1987 he moved to the Biochemistry Department at the University of Otago where he cofounded the New Zealand Sheep Genomics Program and pioneered the introduction of genome mapping methods in farm animals. He moved to Australia in 1999 and joined the Queensland Institute of Medical Research where he ran a successful genome mapping program for human complex disease. He moved to the University of Queensland in 2016 and holds joint appointments at the Institute for Molecular Bioscience (IMB) and the Queensland Brain Institute (QBI). He is a National Health and Medical Research Council Principal Research Fellow and was elected a Fellow the Society for Reproductive Biology in 2012 and a Fellow of the Australian Academy of Health and Medical Sciences in 2015. His research focusses on discovery of critical genes and pathways increasing risk for common diseases especially endometriosis.

A/Prof Derek Richard (QLD)

Associate Professor Derek Richard is a Principal Research Fellow and member of QUT’s Institute of Health and Biomedical Innovation (IHBI) based at the Translational Research Institute (TRI). Dr Richard’s long standing interest in DNA repair systems started during his PhD in microbial biochemistry at the University of Dundee (Scotland) and his move to Queensland in 2004 enabled the study DNA repair systems in the context of human disease. Dr Richard joined QUT in 2011 as a group leader after being awarded an Australian Research Council Future Fellowship. Dr Richard’s team at QUT investigate the cellular processes that allow cells to cope with genomic stress and how these processes are modified in disease. This research centres on the initial basic discoveries of how these processes function in normal cells to prevent disease, and then how these pathways go wrong in diseases such as cancer and Alzheimer’s Disease. His team takes the fundamental discoveries made at the research bench and work towards translating these to the bedside.

Dr Nic Waddell (QLD)

Nic Waddell is head of the Medical Genomics group and deputy coordinator of the Genetics and Computational Biology Department at QIMR Berghofer MRI. She is an NHMRC Career Development Fellow and her research focuses on the use of genomics to study cancer and explore how next generation sequencing can be applied to address clinical challenges.

A/Prof Margie Wright (QLD)

Associate Professor Margie Wright is head of the Imaging Genomics Group at the Queensland Brain Institute and Centre for Advanced Imaging, the University of Queensland. Her research focuses on the neurobiological causes and modifiers of cognitive function associated with development, including ageing, and, especially brain disorders. Much of this work takes a multi-method approach using neuroimaging (MRI, DTI, task and resting state fMRI) and cutting-edge techniques to interrogate brain images in key periods (e.g. adolescence) and across the lifespan in twin and non-twin cohorts, as well as neuropsychological tests, and behavioural and molecular genetic approaches.

Margie did her undergraduate Honours degree at the University of Otago, in Neurophysiology, and her PhD in Psychophysiology, at Flinders University. Following postdoctoral work at Flinders and the University of Queensland she joined the QIMR Berghofer Medical Research Institute, and with Nick Martin established the Genes for Cognition Study, including over 3000 adolescent twins. She is recognized internationally for pioneering the collection of multi-modal imaging from large population samples, together with behavioural and genetic data, initiating the Queensland Twin Imaging study, one of the first large-scale MRI studies in twins in the world. This brought together, for the first time, researchers from QIMR Berghofer, the Centre for Advanced Imaging, University of Queensland and the University of California Los Angeles. She also directed the Queensland arm of the Older Australian Twins Study, a multi-site study of healthy brain ageing, and in 2009 was a founding member of the ENIGMA (Enhancing Neuroimaging Genetics through Meta-Analysis) consortium, a worldwide effort using genome-wide association meta-analysis to identify genetic variants that affect the brain. She relocated her group to QBI in 2015.

Margie is a strong proponent of the importance of collaborative research. She has published widely with over 300 journal articles in the fields of cognitive neuroscience, psychology, and genetics.