Awakening Australia to Rare Diseases: Symposium report and preliminary outcomes

Background Western Australia recently hosted Australia’s inaugural national rare diseases symposium, entitled Awakening Australia to Rare Diseases: Global perspectives on establishing a coordinated approach to a national plan http://www.raredisease.com.au in the port city of Fremantle, Western Australia from the 17th-20th of April 2011. The Office of Population Health Genomics (OPHG), Department of Health Western Australia, in conjunction with the Australian Paediatric Surveillance Unit (APSU), initiated the Symposium and established National and Local Organizing Committees to compose a program that included plenary sessions of invited speakers followed by small group discussions to explore issues raised in the formal presentations. The sessions and content were informed by the Western Australian supporting organisation branches of Carers Australia, Cystic Fibrosis Australia, Motor Neurone Disease Australia, Multiple Sclerosis Society of Western Australia, Muscular Dystrophy WA and Senses Foundation with clinical and disability insights from Genetic Services of Western Australia and the Disability Services Commission. This national rare disease symposium built on the work begun by the Human Genetics Society of Australasia (HGSA) on rare genetic disorders and more recently by the ASPU led Rare Diseases Working Group [1]. International speakers and advisors presented their experiences and perspectives as representatives of a range of organisations and institutions including the U.S. National Organisation for Rare Disorders (NORD), the International Conferences on Rare Diseases (ICORD), New Zealand Organisation for Rare Diseases (NZORD), European Organisation on Rare Diseases (EURORDIS), Orphanet and the U.S. National Institutes of Health Office of Rare Diseases Research. More than 160 speakers and delegates attended from a range of countries including Australia, North America, United Kingdom, New Zealand, France, Hong Kong and Singapore. The majority of delegates were people living with a rare disease who generously shared their personal narratives and contributed invaluable information on many of the issues that will lead to the formulation of a National Plan.