Rare diseases currently affect fewer than one in 2000 people. There are 8,000 such diseases in the world, and five new ones are identified every month. They are generally genetic conditions, but also include auto-immune diseases, infectious diseases, cancers, etc.
The rare diseases are also sometimes described as “orphans” due to the lack of treatment, and they affect nearly three 3 million people in France and 30 million in Europe.
The Sixth International Day of Rare Diseases was held on Thursday 28 February in more than 60 countries throughout the world. Around that date, the world community of rare disease sufferers was invited to come together to put the rare diseases and the millions of sufferers under the spotlight. This year’s slogan is “Rare diseases have no frontiers”, emphasising cooperation between nations which is essential for fighting diseases for which expertise and information is rare and scattered.
Orphanet, a portal hosted by INSERM, provides free access to all the information about rare diseases and orphan medication validated by the experts, and it is being updated continuously. This makes it possible to research a rare illness from among the 8,000 contained in the database and to access its description and the resources associated with it. Thanks to Orphanet’s new mobile application accessible on the iPhone and iPad, its main services are now available in a suitable format. (www.orphanet.fr)
Fondation maladies rares [The Rare Diseases Foundation] (of which INSERM is a founder member) brings together those involved in research and care (public and private entities and associations) in order to explore every avenue of research for the benefit of patients. On the occasion of this special day, the Rare Diseases Foundation has opened a unique information portal concerning the financing of research into rare diseases, created in collaboration with the Agence Nationale de la Recherche and the Direction Générale de l’Offre de Soins. (www.fondation-maladiesrares.org)