A rare or orphan disease is one which affects a small percentage of the population, (defined in the EU as a life-threatening or debilitating disease occurring in no more than 1 in 2000 people; in the US as any disease that affects fewer than 200,000 (1 in 1500 people) or in Japan as a disease that affects 1 in 2500 people).  There are about 6000-8000 rare diseases affecting 8% of the worlds people. Most are genetic in origin.  Due to their low prevalence, it is essential that genetic and other data be shared between organizations across the globe to have a chance of impacting treatment and/or drug discovery. This has motivated collaborative research efforts including the Global Rare Diseases Registry Repository, sponsored by the National Center for Advancing Translational Science in the US, and on an international level, the International Rare Disease Research Consortium and ERA-Net for Research Programmes on Rare Diseases. Registry and tissue repository databases provide valuable data resources to a large community of researchers.  Examples also include the Matchmaker Exchange, MME (http://www.matchmakerexchange.org), a federated network of genotype and rare phenotype databases which facilitate the interaction between multiple disconnected projects.  This presentation with introduce the symposium and discuss ways in which sharing of rare disease data can be facilitated, and innovations in collaboration methods.<br/>

Collaborations and data sharing in rare disease

2019 Spring National Meeting

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