CV Science

Pascale Bomont PhD Neurosciences

Course and current status

Present position

2021-present Professor & ERC group leader in Cell Biology/Neurosciences; INMG-PGNM U1315; Lyon, France 

Education

2010 H.D.R (Habilitation to direct Research); Aix-Marseille II University, France

2002 PhD in Molecular and Cellular Biology; University Louis Pasteur, Strasbourg, France

Previous Research positions

2019-2021 Professor (Inserm DR2 Researcher) & senior group leader in Cell Biology/Neurosciences; INM U1051; Montpellier, France 

2012-2019 Associate Professor (Inserm CR1 Researcher) & ATIP-Avenir group leader in Cell Biology/Neurosciences; INM U1051; Montpellier, France 

2007-2011 Assistant Professor (Inserm CR2 Researcher) in Neurobiology; INMED UMR1249; Marseille, France

2003-2007 Postoctoral Fellow in Neurobiology/Cell Biology; LICR; San Diego, USA (Dir. Pr DW Cleveland)

1998-2002 PhD in Human Genetics; IGBMC; Strasbourg, France (Dir. Pr JL Mandel)

Scientific summary

Our team studies the cellular and molecular basis sustaining neuronal integrity, and deciphers the mechanisms underlying neurodegeneration and/or developmental defects in disease. We combine fundamental and applied research, because we are convinced that the knowledge of the nervous system feeds therapeutic development, and reciprocally, that the study of diseases expands our knowledge of the basics.

Using a multidisciplinary approach encompassing genetic, cell biology, physiology and biophysic the lab is permanently in a learning mode, seeking to explore new disciplines/systems that will help us answer our biological questions. In the last years, we have discovered the genetic loci and genes responsible for a number of neurological diseases, developed diagnostic tools and generated several pre-clinical models (patients derived cells, mouse and zebrafish) to tackle key cellular pathways for neuronal maintenance.

Initially focused on a fatal neurodegenerative disease called GAN (giant axonal neuropathy), for its wide alteration of the nervous system and generalized disorganization of the cytoskeleton, we identified the GAN gene and uncovered key roles of the encoded Gigaxonin-E3 ligase in controlling cytoskeletal architecture (Intermediate Filaments), autophagy machinery (ATG16L1) and neuronal identity (Shh signaling through Ptch). Overall, our team uncovered the repertoire of the molecular and cellular alterations underlying GAN pathophysiology, and now offers potential therapeutic targets for this fatal disease. Notably, our work on a rare disease has also contributed to a deeper understanding of fundamental cell- and neuro- biology. Moreover, these discoveries have a significant impact in health, as they can be of benefit to other neurological and non-neurological diseases.

Our scientific direction is to further tackle the biology of neuromuscular diseases, with a focus on GAN and Charcot-Marie-Tooth diseases. Specifically, we aim to unravel the regulations and functions of i) the neuronal cytoskeleton and ii) the autophagy pathway in normal neuronal physiology and disease states, and then translate this knowledge into therapies.