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Neurogenetics

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Team Leader: Sylvain Briault

The « Neurogenetics » research team focuses on the genetic and physiopathological studies of intellectual disabilities (ID) and autism spectrum disorders (ASD). Our goals are i) the identification and characterization of the genes involved in these pathologies, using Fragile X Syndrome (FXS) and the COSMOC/MOCOS locus as models, and ii) a better understanding of the involved physiopathological processes. FXS is the main form of hereditary intellectual disability with autistic traits, and it affects 2 out of 10 000 birth, meaning 200 000 patients between Europe and the United States, and almost 500 in the Centre-Val de Loire region.

Besides the intellectual disability and autistic traits, patients with FXS patients also show a sensory dys-sensitivity characterized by a strong aversion toward social visual contact and tactile contact, as well as an increased sensitivity to noises. Our research’s main theme is the characterization of these sensory disorders in a FXS mouse model from a molecular, cellular and behavioral level.

Thanks to the analysis of multipotent stem cells issued from ASD patients, we recently identified the couple of divergent genes COSMOC/MOCOS as a new TSA-linked locus. The goal of this project is to better understand the role of this bidirectional unit in brain development and function by further studying the deregulation of these genes in both stem cells and KO mice models. Our work hypothesis is that this deregulation might contribute to the dysfunctions observed in ASD.

The « Neurogenetics » team also aims to assess the brain’s immune response for various mouse models with cognitive disorders. This study, at the interface between neurosciences and immunology, focuses especially on the glial cells acting as “sentinels” cells, capable of neuronal activity modulation. Depending on the genetic, infectious and/or environmental origin, we evaluate the contribution of these cells to the observed behavioral deficits.

All our projects fit in a transversal approach with the contribution of different academic, industrial, but mostly hospital partners thanks to close bonds with the Orleans CHR, which is currently carrying out a clinical trial.

 

Experimental models Partners Publications since 2010
     

Keywords: Autism, Fragile X syndrome (FXS), sensory disturbances, stress, neuro-inflammation, glial cells, mice models