Directrice de recherche émérite à l’Inserm et fondatrice du site Orphanet
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A disease is said to be rare if it affects fewer than 1 in 2,000 people, or, for France, fewer than 30,000 people for a given disease. Rare diseases are highly diverse, are found in all areas of medicine, and are often serious, chronic, and progressive.
These diseases, also known as “orphan diseases,” affect approximately 3 million people in France, and between 27 and 36 million people in Europe.
The theme chosen for this 8th World Rare Disease Day, “Living with a Rare Disease – Day-by-day, hand-in-hand!” pays tribute to the patients, families, carers and researchers who deal with rare diseases on a year-round basis.
Orphanet, a portal hosted by Inserm, provides free and open access to all the information on rare diseases and orphan drugs, validated by experts and continuously updated. It is thus possible to search for a rare disease among the 8,000 referenced in the database, and see a description of it and the related resources. Already available as a mobile application, compatible with iPhone or iPad, this year Orphanet is launching Orpha Guides, an application focused on providing information about the disability associated with a rare disease, and the assistance and benefits available to patients.
To find out more, visit www.orpha.net
OrphaNews: the Rare Disease community newsletter
The French Foundation for Rare Diseases, of which Inserm is a founding member, brings together players in research and in care (from the public, private and non-profit sectors), in order to encourage research in all areas for the benefit of patients.
To find out more, visit www.fondation-maladiesrares.org