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 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 often observed in individuals with ASD. Our results highlight the genetic heterogeneity of ASD, but also point at common pathways that could constitute relevant knowledge for new treatments targeting the clinical symptoms often associated with ASD such as intellectual disabilities or epilepsy. We are currently performing a thorough genomic and clinical profiling of a large number of individuals (> 1000 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 also developing new methods for analyzing whole genome and brain imaging data as well as new paradigms for characterizing mice social and vocal behaviors.
Great advice from the Child Psychiatry Department of Pr Richard Delorme (Robert-Debré Hospital) on CléPsy !
Our recent contributions
GeneTrek is an online tool (currently in development) that enables users to explore the association of human genes to neuro-developmental disorders. Users can explore their own gene list or curated gene list. Once queried, GeneTrek describes whether the genes are included in known neurodevelopmental disorder gene lists.
Spontaneous social communication in laboratory mice – placing ultrasonic vocalizations in their behavioral context Ey, De Chaumont & Bourgeron. 2020
Polygenic architecture of human neuroanatomical diversity Biton et al. 2019
Both rare and common genetic variants contribute to autism in the Faroe Islands Leblond et al. 2019