Our group gathers psychiatrists, neuroscientists and geneticists to understand the causes of autism. We previously identified one synaptic pathway associated with autism – 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 autism. Our results highlight the genetic heterogeneity of autism, but also point at common pathways that could constitute relevant knowledge for new treatments targeting the clinical symptoms often associated with autism such as intellectual disabilities, epilepsy . We are currently performing a thorough genomic and clinical profiling of a large number of individuals (>1000 families with autism) 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.
Our recent papers !
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Both rare and common genetic variants contribute to autism in the Faroe Islands
Claire Leblond, Freddy Cliquet, Coralie Carton, Guillaume Huguet, Alexandre Mathieu, Thomas Kergrohen, Julien Buratti, Nathalie Lemière, Laurence Cuisset, Thierry Bienvenu, Anne Boland, Jean-François Deleuze, Tormodur Stora, Rannva Biskupstoe, Jónrit Halling, Guðrið Andorsdóttir, Eva Billstedt, Christopher Gillberg Thomas Bourgeron