I am working on the contribution of regulatory variants to neurodevelopmental disorders. Our knowledge of the biological pathways associated with autism and other NDD comes from the identification of rare deleterious variants impacting protein structure. However, non-coding variants are suspected to play a role by modulating gene regulation. Thus, we will aim to precisely identify regulatory variants associated with autism, investigate the genes and biological pathways regulated by such variants and study how they affect individuals brain profile and clinical trajectory. Mapping the effect of regulatory variants will improve our understanding of the pathways involved in autism, and allow a better stratification of individuals.
Microscopie d'un neurone. Le marquage jaune montre les synapses.
Member: PhD Student