Monday Muscle Seminar M&Ms: Pascale Bomont

Studying a rare neurodegenerative disease called giant axonal neuropathy (GAN), Pr Bomont will present the discovery of the gigaxonin-E3 ligase as a pivotal regulator of Intermediate Filament homeostasis, autophagy activation and motor neuron specification. Using the complementarity of various biological systems in human, mouse and zebrafish, the laboratory investigates the roles of these key cellular pathways in neurodegeneration, and is currently developing therapeutic approaches for GAN, that can be beneficial to other IF-pathies.

Pascale Bomont is a Research director at Inserm, University of Lyon1

She received her PhD in Human Genetics in 2002 (IGBMC, Strasbourg, France). Performing linkage and bioinformatics analysis on the Human Genome, she identified the genetic locus and mutated genes for several neuropathies.  Focusing on Gigaxonin, a novel E3-ubiquitin ligase adaptor she found mutated in Giant Axonal Neuropathy (GAN), she conducted a postdoctoral training in Cell Biology (LICR, San Diego, USA) to investigate the broad cytoskeleton (Intermediate Filament) alteration in the pathology.  Moving back to France, she was recruited at INSERM in 2007 (as assistant Professor), and was awarded by the ATIP-Avenir prize in 2011 to run a multidisciplinary research program on GAN, at Montpellier University (Associate Professor in 2012). She developed tools and biological systems in patients, mouse and zebrafish to generate a differential diagnosis test between GAN and CMTs, and to unravel the key roles of the Gigaxonin-E3 ligase in controlling cytoskeleton architecture, autophagy machinery and neuromuscular integrity.

She is now full Professor at University Lyon1, and runs an ERC-program at the NeuroMyogene institute on neurofilament biology.