The 6th International R&D Dating will take place on June 30th in the “Collège de France”, in Paris, on the theme of “Rare Diseases and Personalized Medicine”.
Rare diseases, as defined by a frequency lower than 1/2000, are in their vast majority genetic diseases. They represent a paradigm for the development of personalized medicine which objectives are to ensure early diagnosis, prevention and treatment of diseases according to individual characteristics. Rare diseases often correspond in fact to extreme forms of common diseases. Therefore, deciphering the molecular and biological mechanisms of rare diseases starting from gene identification has a broader interest for many frequent diseases.
Cohorts of patients presenting rare diseases associated to a known genetic alteration constitute homogenous subpopulations that are particularly appropriate to evaluate efficacy and toxicity of drugs. Finally, in the context of the technological revolution of the Next Generation Sequencing initiated since 2009 and allowing complete exome analysis within a few weeks, rare diseases are the priority for the clinical implementation of these new technologies. In the field of rare diseases, France has set up a national organization in order to combine expertise and territorial equity. This national organization is based first on national networks of Reference Centers and Competence Centers dedicated to specific rare diseases or groups of rare diseases. These centers ensure phenotypic evaluation and clinical management of patients. It is also based on national networks of molecular genetics laboratories performing the diagnosis of specific rare diseases or groups of rare diseases.
Another advantage of the French organization is that most of the research laboratories involved in rare diseases are localized on medical campus and the vicinity between research laboratories and hospitals facilitates translational research from bench to bed.
Rare diseases and personalized medicine are top health and research priorities of the French government, as highlighted by the “Plan Maladies Rares 2011-2014” and the strategic orientations of the Ministry of Health and Ministry of Research.