S.P.35 The Human Variome Project – Sharing data – Reducing disease

Abstract The Human Variome Project ( www.humanvariomeproject.org ), a Consultative Partner of the United Nations Educational, Scientific and Cultural Organisation, is the international initiative to collect, curate, interpret and share information on all human genetic variation. The Project establishes and maintains the necessary standards, systems and infrastructure for genetic knowledge sharing, offers training and education for clinicians, researchers and the general public and works with individual countries to build their medical genetics and genomics capacity. These activities promote the development of better genetic services and will lead to the improvement of genetic treatment and diagnostic abilities worldwide. The Human Variome Project has established a Global Collection Architecture to ensure comprehensive collection of genetic data worldwide and encourages collection via Human Variome Project Country Nodes anf Gene/Disease Specific Databases. Examples of each of these include the Human Variome Project Australian Node ( www.hvpaustralia.org.au ) and InSiGHT database (InSiGHT, www.insight-group.org ). An International Confederation of Countries has also been initiated with Australia, Austria, Belgium, China, Cyprus, Egypt, Greece, Kuwait, Malaysia, Spain, Vietnam and Nepal in the application process. We believe that there will be synergy between the myogenetics initiative and the Human Variome Project. Potential collaboration on data collection between the Human Variome Project Australian Node ( www.hvpaustralia.org.au ) and the Australian Neuromuscular Network is currently under discussion.