February 28, 2018, marks the eleventh annual world Rare Disease Day, which carries the slogan “Show your rare. Show you care.” and the #ShowYourRare hashtag. World Rare Disease Day was created in 2008 by EURORDIS and the Council of National Alliances. Ninety countries will be participating in 2018.
Orphanet, which is coordinated by Inserm and is a member of the Rare Disease Platform, is the portal of reference for rare diseases and orphan drugs. It offers an array of freely accessible services to allow patients to understand their disease and its consequences, and to orient them in their care pathways by identifying diagnosis laboratories and reference centers.
A large consortium headed by the University of Tübingen (Germany), the Radboud University Medical Center in Nijmegen (Netherlands), and the University of Leicester (UK), as well as Inserm in France through Orphanet, two major research institutions (the Myology Center for Research and the Brain and Spine institute in Paris), Eurordis, and the Dijon University Hospital, received a €15 million grant for the SOLVE-RD research program.
Today, no less than twenty-four European Reference Networks (ERN) have been set up to improve and harmonize diagnosis and treatment for people with rare diseases. To date, four of them have joined SOLVE-RD by adding and sharing their patient data: RND for rare neurological diseases, EURO-NMD for neuromuscular diseases, ITHACA for congenital malformations and intellectual disability, and GENTURIS for genetic tumor risk syndromes. Other ERNs will join the project in the months to come.
Inserm Unit US14 Information and service platform for rare diseases and orphan drugs (Orphanet)
Contribution: description of profiles of patients suffering from unnamed rare diseases
Inserm Unit 1127 Brain and Spine Institute (ICM)
Inserm Unit 974 Myology Center for Research (CRM)
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