CV Science

Marc Bitoun Pathophysiology and therapy of dominant centronuclear myopathy

Course and current status

Education and positions

-1999: PhD in Neuroscience. Claude Bernard Lyon I University

-2008: CR1 (Chargé de Recherche) Inserm

-2014: Habilitation to direct research (H.D.R.), Pierre & Marie Curie University (Paris)

-2014: Team leader in the Research center in Myology (UMRS 974 Inserm, Sorbonne Université).

-2018: DR2 (Directeur de Recherche) Inserm

Current Position

Team leader in the Centre of Research in Myology (UMRS 974 Inserm, Sorbonne University)

Scientific summary

I joined the INSERM unit 582 directed by Pascale Guicheney (Institute of Myology, Paris, France) in 2004 with the objective to identify the gene mutations causing the autosomal dominant centronuclear myopathy, a rare form of congenital myopathy. During the last 15 years, my work led to the identification of the first mutations responsible for the disease in the DNM2 gene encoding Dynamin 2, a key protein of the endocytosis and intracellular membrane trafficking. Afterwards, I have contributed to the identification of novel DNM2 mutations and their clinical characterization, the better knowledge of the other forms of centronuclear myopathy or DNM2-related diseases, development of the unique mouse model for the dominant centronuclear myopathy, identification of pathomechanisms, and more recently development of therapeutic strategies.