National Alliance of Rare Disease Registries Sub-Committee

Dr Paul Lacaze

CHAIR, 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.

Clin/Prof Gareth Baynam

Western Australian Register of Developmental Anomalies, GSWA, WADoH, Centres of Expertise, Phenotyping, Digital Health (WA)

Professor Gareth Baynam is a Head of the Western Australian Register of Developmental Anomalies (birth defects and cerebral palsy registers); Clinical Geneticist and Program Director of the Undiagnosed Diseases Program WA; Board Member of the Undiagnosed Diseases Network International; and Adjunct Genomics Policy Officer in the Western Australian Health Department. He is affiliated with the University of Western Australia; Curtin University; Murdoch University; Notre Dame University; Melbourne University; and Telethon Kids Institute. He is the Founder of an integrated suite of cross-sector and community engaging initiatives to improve the lives of people living with rare diseases including Project Y, Cliniface and Lyfe Languages. He Chairs and/or is one of the Executive or Advisories of multiple international rare diseases initiatives and has personal connections to rare diseases.

Prof Alan Bittles
AM, PhD, ScD

ECU/Murdoch, Community Genetics, Consanguinity, Intellectual Disability (WA)

Prof. Alan Bittles received his PhD from Queen’s University, Belfast, ScD from Trinity College, University of Dublin, and is a Fellow of the Royal College of Pathologists. He is Emeritus Professor of Community Genetics in the School of Medical and Health Sciences, Edith Cowan University and Adjunct Professor in the Centre for Comparative Genomics, Murdoch University, Perth, Australia. His present research centres on the impact of consanguinity and genetic sub-structure on disease gene expression, haemoglobinopathies, and intellectual and developmental disability, with projects in Australia, India and the UK. Prof. Bittles was Inaugural Chair of RVA’s SMAC from 2015-2017 and in 2017 he was appointed a Member of the Order of Australia (AM) for services in Medical Genomics.

Tiffany Boughtwood

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.

Dr Tamera Corte

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 worked 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 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.

Dr Lisa Ewans

Dr Lisa Ewans is a Clinical Geneticist at Royal Prince Alfred Hospital and Sydney Children’s Hospital and a Clinical Lecturer at The University of Sydney. She obtained her MBBS and BSc (Neuroscience) at Imperial College London before moving to Sydney to continue paediatric training, and received her Fellowship of the RACP in clinical genetics. In her practice she sees a range of patients with rare genetic disorders of all ages, advocating for their care. She is completing a PhD in genomics applied to the diagnosis of rare genetic disorders through the Garvan Institute of Medical Research and UNSW. Her research and clinical interest is to help individuals with suspected but unsolved rare genetic disorders to find a diagnosis, and is co-leading a new undiagnosed diseases program through the Sydney Children’s Hospital Network.

Dr Aideen McInerney-Leo
PhD, MSc, BSc

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

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.