Our team leads translational research in the field of Inherited Peripheral Neuropathies (mostly Charcot-Marie-Tooth disease), a group of neuromuscular disorders affecting peripheral nerve. Our aim is to better understand the genetics and physiopathology of this group of diseases. We focus our research on autosomal recessive forms of these diseases, by studying large consanguineous families. By using traditional positional cloning strategies, combined to high-throughput Next Generation Sequencing strategies, we identify new defective genes in Inherited Peripheral Neuropathies. We further study the physiopathology of these diseases, by developing different models, in order to identify potential therapeutic strategies for these diseases.
In close relation to the Molecular Genetics Department from The Children Hospital “La Timone”, we develop innovative diagnosis strategies.
Finally, we also have a small research program dedicated to the study of autosomal recessive Non Progressive Congenital Ataxias.
Head : Valérie DELAGUE, Senior Researcher
Lara EL BAZZAL, Doctoral position
Nathalie ROECKEL, Technician