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Rare Disease Day, February 28th, 2013

Rare Disease Day takes place on the last day of February every year - in France and over 60 countries worldwide. The international community of rare diseases is invited to come together around this date to shine the spotlight on rare diseases and the millions of people they affect.

This year's slogan, "Rare disorders without borders", focuses on cross-border cooperation as this is key if we are to take action against diseases that affect few people in each country and for which expertise and information are sparse and scattered.

A disease or disorder is defined as rare when it affects fewer than 1 in 2000. 6000 to 8000 have been identified to date and 5 new ones are identified every month. They are often genetic diseases, but also cancers, autoimmune diseases and infectious diseases. There is still no treatment for most of these diseases, which is why we also refer to them as "orphan diseases". Figures show that they concern around 3 million people in France and 30 million across Europe.

Inserm is a key stakeholder in the field through several of its research teams who are working on these diseases in order to find out the mechanisms behind them and thus develop diagnostic techniques and new leads for therapy.

Inserm also hosts the Orphanet portal which is maintained by the service unit 14. Orphanet gives free access for no charge to all the information about rare diseases and orphan drugs that has been validated by experts and is updated continuously. Thanks to its new mobile app for use on iPhones and iPads, Orphanet's main services are now available in adapted format. It is therefore possible to search for a rare disease from among the 8000 listed in the database and see its description and the resources relating to it: contact details for specialist consultations and professionals, emergency recommendations and so on.

Last but not least, Inserm is a founding member of the French Rare Disease Foundation, which brings together research and healthcare stakeholders (public, private and associations) with a view to encouraging all lines of research for the benefit of patients. Especially for Rare Disease Day, this Foundation is putting online a single information portal about funding for research into rare diseases, set up in partnership with the French National Research Agency (ANR) and Directorate-General for Healthcare Services (DGOS). All of the information about national calls for proposals, European Commission calls for proposals as well as those launched by patients' associations is now available in the same place (detailed calendars, types of research funded, link to applications, etc.).

To find out more

Find the awareness-raising actions taking place in connection with Rare Disease Day in your region: http://www.rarediseaseday.org/country/fr/france

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