Rare diseases represent a major public health challenge due to their number, presently estimated to be between 6000 and 8000, their severity and the absence of any preventive treatment. The enactment of two National Plans for Rare Diseases by the establishment of Referral Centers and Diagnosis and Treatment Centers has brought about a recognition of the specificity of these disorders, the creation of a epidemiological database, a framework for rapid diagnosis protocols at the first symptoms, greater access to specialized care to accompany the afflicted and their families during their frequently difficult medico-social journey, training of skilled health professionals in the field of these rare diseases, promotion of basic and clinical research and finally the development of European partnerships in both research and therapeutic planning.