Génétique humaine et fonctions cognitives

Our group gathers psychiatrists, neuroscientists and geneticists to understand the causes of autism spectrum disorders (ASD).

We previously identified one synaptic pathway associated with ASD – the NLGN-NRXN-SHANK pathway. This pathway is known for playing a role in synapse formation and in the balance of excitation and inhibition within the brain. In parallel, we identified the first mutations within the melatonin pathway, which could contribute to the sleep problems observed in individuals with ASD. Our results highlight the genetic heterogeneity of ASD, but also point at common pathways that could constitute relevant targets for new treatments.

We are currently performing a thorough genomic and clinical profiling of a large number of individuals (>500 families with ASD) using high-throughput genotyping/sequencing, biochemistry and brain imaging. In parallel, we are focusing on a set of mutations that we identified in genes related to the synapse (NLGN, SHANK, CNTN) by studying in depth their functional impact at the clinical and neuronal levels. Especially, we are exploring new ways of modulating the observed deficits by using human induced pluripotent stem cells (iPSC) and animal models.

Our group is developing new methods for analyzing whole genome and brain imaging data as well as new paradigms for characterizing mouse social and vocal behaviors.