What is a rare disease ?
A disease is described as rare when it affects one person in 2,000; i.e., in France, fewer than 30,000 patients per pathology. There are over 3 million French patients affected by one of the 7,000 rare diseases currently identified, and around 25 million people in Europe.
Promoted by two successive national plans, a highly-structured national organization is made up of Reference Centres for Rare Diseases (centres de référence maladies rares - CRMR) and by Health Networks for Rare Diseases (filières de santé maladies rares - FSMR), all serving to support various initiatives in this field. They aim to facilitate interpretation of patients’ health journeys, and reduce delays in confirmed diagnoses.
A booklet entitled “Health Networks for Rare Diseases” revised in June 2020 (Filières de santé maladies rares” - Last update: June 2020) describes the work of these Health Networks within the national system for rare diseases, and introduces the 23 Networks.
FURTHER INFORMATION ON RARE DISEASES