Why Rare Diseases are an Important Medical and Social Issue

Schieppati A, Henter JI, Daina E, Aperia A. Why rare diseases are an important medical and social issue. Lancet. 2008;371(9629):2039-2041. doi:10.1016/S0140-6736(08)60872-7

Rare diseases affect a limited number of individuals (defined as no more than one in 2000 individuals in the European Union and no more than about one in 1250 in the USA), but the number of disorders that fit this definition is very large (>5000 according to WHO). Therefore, the number of patients affected by a rare disease could be about 30 million in Europe and 25 million in North America. The true burden of rare diseases in Europe and elsewhere is difficult to estimate, since epidemiological data for most of these diseases are not available.

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