Nicolas Lévy

University Professor and Hospital Practitioner in Genetics

INSERM

Nicolas Lévy

Nicolas's activity is mainly focused on the genetics and cell biology of neuromuscular disorders (NMDs). At the diagnosis level, in the last 12 years, his laboratory has set-up specific protocols towards exploring most genes involved in peripheral neuropathies (CMTs) and LGMDs together with the exploration of numerous other NMDs (DMD/BMD, FSH, IBM/GNE) and laminopathies. This diagnosis activity has allowed the identification of large cohorts of patients, perfectly characterized at the molecular level, and who will therefore be eligible for future innovative therapeutic trials. In particular, they have the largest known cohort of patients affected with dysferlin deficiency, and set-up targeted therapeutic approaches according to their mutations types.

Also Nicolas has maintained his clinical activity with patients in the context of specific consultations for NMDs for patients given our centre as a referral centre for NMDs. As a researcher, he developed three main projects;

i) in the field of CMT, they localize and identify genes and related functions (LMNA as the gene responsible for an autosomal recessive form of axonal neuropathy (CMT2B1) and, more recently, FRABIN/FGD4 in CMT4H);

ii) Laminopathies constitute a specific project, in particular in the field of premature ageing for which the Progeria clinical trial started in 2008 and

iii) the physiopathology of some muscular dystrophies (calpainopathies, dysfelinopathies, and FSH) constitute the 3rd main theme of his research laboratory at Inserm.

These three research activities are tightly connected to his clinical/diagnosis activities and his objective, together with the groups working hard with him, and thanks to the close national and international collaborations: that is to better understand the patho-physiology of these rare diseases and ultimately to be able to propose some therapeutic solutions.

Nicolas' job titles are...

  • University Professor & Hospital Practitioner (Genetics)
  • Department of Medical Genetics, Hôpital d'enfants de la Timone.
  • Faculté de Médecine de Marseille -  Research and Teaching.
  • Head of the research Inserm team "Genetics of Neuromuscular Disorders and Laminopathies".
  • Head of the Center for Teaching and Research in Medical Genetics (CERGM).

Inserm UMR_S 910
"Genetique Medicale et Genomique Fonctionnelle"
Faculte de Medecine de la Timone
Marseille Cedex 05
13385
France


Website www.nmd-chip.eu