Position: Professor of Genetics, head of the Department of Medical Genetics and of Inserm UMR_S 910
Organisation: Aix-Marseille University Medical School
Area of work: Bioinformatics
Professor Nicolas Lévy leads the Department of Medical Genetics and the Inserm UMR_S 910 research lab in Marseille. He is responsible for numerous projects on rare diseases and has a special interest in neuromuscular disorders and premature ageing. As a clinician and researcher engaged primarily in translational medicine in rare diseases, he is also the principal investigator for the EU trial in Progeria conducted in Marseille and is involved in other therapeutic studies.
Nicolas was appointed Director of the French Institute for Rare Diseases (GIS-Institut des maladies rares) in 2009 and in 2012 became the Scientific Director of the French Rare Disease Foundation (Fondation Maladies Rares). In 2013 he was awarded the Grand Prix Robert-Debré 2012 for clinical research by the Association Robert Debré for medical research (ARDRM).
Nicolas's activity is primarily focused on the genetics and cell biology of neuromuscular disorders (NMDs). At both a diagnostic and research level, his laboratory has set up specific protocols towards exploring genes involved in peripheral neuropathies and limb girdle muscular dystrophies together with the exploration of numerous other NMDs including Duchenne and Becker muscular dystrophy, facioscapulohumeral muscular dystrophy, GNE myopathy, calpainopathies and laminopathies. This activity has allowed the identification of large cohorts of patients perfectly characterized at the molecular level who may therefore be eligible for future innovative therapeutic trials. In particular, they have the largest known cohort of patients affected with dysferlin deficiency and have set up targeted therapeutic approaches according to their mutation types.