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Rare Diseases (RD) are diseases that affect a small number of people compared to the general population. In Europe, a disease is considered as rare when it affects 1 person per 2,000 or less. Over 30 million European citizens are affected by a RD. Almost all RDs are life-threatening or chronically debilitating disorders, and most of them have a genetic origin. To date, 5,000 to 8,000 phenotypes have been described among which 2,000 have already been assigned to one or several genes.
The very small number of patients affected by a specific rare disease results in fragmentation of research efforts and in limited potential for commercial development of medicinal products. As patients suffering from rare conditions have the right to benefit from the same quality of care as other patients, it is essential to eliminate these obstacles by acting at the European level.
RDPlatform project will help European researchers working on RD to reach the critical mass, in terms of expertise and resources, needed in the field of RD.
For more information on Rare Diseases you can visit Orphanet
DGSanco information on RD
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