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- W181968382 abstract "A rare disease is a condition the prevalence of which is lower than 5 cases per 10,000 inhabitants. At least 7000 rare disease have been discovered. in France, rare diseases affect nearly 30,000 patients and often only few cases for a given disease. Three to 4% of children and 6% of the population in Europe present with a rare disease. Most of these diseases do not have any curative treatment yet. It is thus a true public health stake. In France, a National Rare Diseases Plan was initiated in 2004. Thirty three out of 132 labelled Reference Centres (RC) share a common Information System called CEMARA. It is dedicated to collect continuous and complete records of patients presenting with a rare disease, and their follow-up. The main objective of CEMARA is to analyze the epidemiological patterns of rare diseases. It is also to contribute to the missions of the RC regarding the registration and description of their activities, coordination of the network of their correspondents, organization of the follow-up of rare diseases. A description of CEMARA is provided as well as its cooperation with Orphanet and GenAtlas, and a presentation of the 30,119 current records collected by more than 400 health care professionals belonging to more than 100 specialized sites." @default.
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- W181968382 date "2009-01-01" @default.
- W181968382 modified "2023-10-18" @default.
- W181968382 title "CEMARA: une plate-forme Web pour les maladies rares" @default.
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- W181968382 doi "https://doi.org/10.1007/978-2-287-99305-3_25" @default.
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