A rare disease is defined as a life-threatening or chronically debilitating disorder or condition which is uncommon in the general population. Over 6000 rare diseases have been so far identified, with 80% of them having a genetic origin. It is estimated that about 6-8% of Australians are affected by a rare disease.
This year's theme for Rare Disease Day is "Bridging health and social care". Join us for this special public lecture, bringing together guest speakers from The John Curtin School of Medical Research, the ANU Medical School and the ANU Research School of Population Health. Professor Cook, A/Professor Phillips and Dr Bourke will share their work and discoveries focusing on the clinical, care and policy aspects of rare diseases.
Professor Matthew Cook is a Professor of Medicine at the Australian National University, Director of Immunology at The Canberra Hospital and Director of the Centre for Personalised Immunology (CPI), an NHMRC Centre of Research Excellence. He is a clinician-scientist with more than 20 years’ experience in investigating immune deficiency and autoimmunity pathogenesis.
Associate Professor Christine Phillips is a clinician academic who has worked for twenty years with marginalised populations, with special interests in management of complex and multimorbid conditions. She has higher qualifications in anthropology and public health, and is the Chair of Social Foundations of Medicine at the medical school. In her work as Medical Director of the ACT's refugee health service, and chair of the national network of refugee health services, she is familiar with the challenges of caring for many patients with rare diseases and fragile social supports.
Dr Siobhan Bourke is a Research Fellow in Health Economics in the Department of Health Services Research and Policy in the School of Population Health at ANU. Her research has mainly focused on health economic evaluation and orphan drug policy in the UK. She completed her PhD in health economics on “The Economics of Orphan Drugs” at Bangor University in 2018.