Dr Paul Lacaze
U/Monash U/Alfred, Genomics, Cohort Studies, Biobanking, Rare Disease Registries
Dr Paul Lacaze is a geneticist and Head of Public Health Genomics at Monash University. He conducts research into the role of genetic data in public and population health, through large-scale cohort studies, biobanks, clinical trials and registries. He leads genomics for the ASPREE study, Australia’s largest clinical trial and study of healthy ageing in >15,000 Australians, and works with the Monash Registries Science Unit in the area of rare disease registries. He conducts research into the ethical, legal and social issues associated with use of genomic information in society. He founded the Australian Non-Genetic Discrimination Working Group, a national body advocating for regulatory change around the use of genetic test results in life insurance. He is passionate about developing a National Plan and Alliance for Rare Disease Registries in Australia.
| || |
A Clin/Prof Gareth Baynam
GSWA/DoH, Facial Analysis, Dysmorphology, Phenotyping (WA) A/Professor
Gareth Baynam is a Clinical Geneticist and Adjunct Genomics Policy Officer in the Western Australian Health Department. He is affiliated with the University of Western Australia, School of Paediatrics and Child Health; Murdoch University, Institute for Immunology and Infectious Diseases; and Telethon Kids Institute. He has personal connections to rare diseases.
| || |
Prof. Alan Bittles
Murdoch/ECU, Community Genetics, Consanguinity, Intellectual Disability (WA)
Professor Alan Bittles currently is Adjunct Professor and Research Leader in the Centre for Comparative Genomics, Murdoch University, Perth, Australia and Adjunct Professor of Community Genetics in the School of Medical Sciences, Edith Cowan University, where he was Foundation Professor of Human Biology and Director of the Centre for Human Genetics from 1993-2005. His present research centres on haemoglobinopathies, intellectual and developmental disability, and the impact of consanguinity and genetic sub-structure on deleterious gene expression, with projects in Australia, Brazil, India, Pakistan and the UK.
| || |
Tiffany Boughtwood is the Manager of Australian Genomics, responsible for the executive operations of this distributed research network across Australia. Tiffany has over 20 years experience in molecular biology and research management, having led NATA-accredited genomic sequencing facilities, operated academic and accredited diagnostic laboratories, and consulted in genomic implementation and project management. She is committed to health and social outcomes, and is a passionate proponent of the efficient, effective, ethical and equitable implementation of clinical genomics in Australia.
Tamera Corte, MD, PhD, is a Consultant Respiratory Physician and Director of Interstitial Lung Disease in the Department of Respiratory Medicine at Royal Prince Alfred Hospital, an Associate Professor at the University of Sydney and is the Chair of the Steering Committee for the Australian Idiopathic Pulmonary Fibrosis Registry, and a member of multiple international task forces for interstitial lung disease guidelines. She continues her research at Sydney University, where her interests include the interstitial lung diseases as well as pulmonary vascular disease. She is Chief Investigator on a recently awarded Centre of Excellence NHMRC grant for Pulmonary Fibrosis, which strives to improve and extend the lives of patients living with pulmonary fibrosis through the development of a comprehensive and integrated program of basic and clinical research and education across Australia.
Prof. Hugh Dawkins
Professor Hugh Dawkins leads the Office of Population Health Genomics (OPHG). He has been instrumental in the translation of technology and new knowledge into health policy and implementation of those policies into public health best practice in particular, to minimise the impact of genetic and rare diseases. Specifically, his Office has work closely with Rare Voices Australia in leading and coordinating Australian efforts in the development of a National Framework for Rare Disease, and is responsible for implementing the Western Australian Rare Diseases Strategic Framework. OPHG is also currently leading the development of a Newborn Bloodspot Screening National Policy Framework; implementing with Genetic Services the rare and undiagnosed diseases service, including integrating phenotyping tools; and culturally safe services for the WA Aboriginal population. OPHG continues to gather population based epidemiological and social evidence on the impact of genetic and rare diseases within the community and across the broader health sector.
Lisa Ewans is a Clinical Geneticist at Royal Prince Alfred Hospital, Sydney, a Clinical Associate Lecturer at The University of Sydney, and is completing a PhD at the University of New South Wales and the Garvan Institute of Medical Research. Her clinical training is in paediatric medicine and general clinical genetics, with current clinical practice across paediatric, adult, and prenatal genetics. She has expertise in genomic diagnostics for rare disease and has been working and conducting research in this field for more than 5 years.
Dr. Aideen McInerney-Leo
Dr. Aideen McInerney-Leo studied Human Genetics as an undergraduate at the University College London and her Masters in Genetic Counselling at the University of Manchester. Following graduation, Aideen moved to the National Institutes of Health where she conducted research for the following eight years. She was also associate director of the genetic counselling master’s program at Johns Hopkins University. Aideen moved to Brisbane in 2006 where she initially practiced clinically. In 2011 she returned to clinical research at the University of Queensland Diamantina Institute and subsequently completed her PhD on the analysis of whole exome sequencing for rare disorders. She currently works at QUT focusing on genomics education, genomics research and facilitating the integration of genomics into healthcare.
Dr Zoe McQuilten
MBBS PhD FRACP FRCPA
Dr McQuilten is a consultant haematologist at Monash Health and a NHMRC Early Career Fellow at Monash University. She is the Deputy-Director of the Transfusion Research Unit and a senior research fellow with the Australian and New Zealand Intensive Care Research Centre (ANZIC-RC). Her other appointments include Co-Chair of the Supportive Care Group for the Australasian Leukaemia and Lymphoma Group. Dr McQuilten is a lead investigator on a number of national clinical registries in the areas of transfusion, bone marrow failure and blood cancers, which include rare disease registries.
| || |