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.
Currently recruiting 2 postdocs: one in human genetics and one in neuroimaging!
To learn more about autism, visit our Autism page.
Find great advice from the Child Psychiatry Department of Pr Richard Delorme (Robert-Debré Hospital) on CléPsy.
Our recent contributions
Phenotypic effects of genetic variants associated with autism Rolland et al. 2023
Operative list of genes associated with autism and neurodevelopmental disorders based on database review Leblond et al. 2021
Genome-wide analysis of gene dosage in 24,092 individuals estimates that 10,000 genes modulate cognitive ability Huguet et al. 2021
Spontaneous social communication in laboratory mice – placing ultrasonic vocalizations in their behavioral context Ey, De Chaumont & Bourgeron. 2020
Autism-associated SHANK3 mutations impair maturation of neuromuscular junctions and striated muscles Lutz et al. 2020
Decreased phenol sulfotransferase activities associated with hyperserotonemia in autism spectrum disorders Pagan et al. 2021
Mass-spectrometry analysis of the human pineal proteome during night and day and in autism Dumas et al. 2021
Interactive Psychometrics for Autism With the Human Dynamic Clamp: Interpersonal Synchrony From Sensorimotor to Sociocognitive Domains Baillin et al. 2020
