© Christelle Durand
Microscopie d'un neurone. Le marquage jaune montre les synapses.

Human Genetics and Cognitive Functions


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.





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Affiliated members

Gothenburg 2006 08 30 Pressreleasepicture for free publication. Christopher Gillberg Bild: Magnus Gotander, Bilduppdraget

Christopher Gillberg is Professor of Child and Adolescent Psychiatry at the University of Gothenburg, Sweden, since the mid 1980s. He heads the Gillberg Neuropsychiatry Centre. He is also a Chief Physician at the Sahlgrenska University Hospital and one of the world’s most experienced, clinically active, child- and adolescent psychiatrists, with over 40 years of extensive clinical work in treatment of patients and families with complex psychiatric/neurodevelopmental problems.

Christopher Gillberg is affiliated to the “Human Genetics and Cognitive Functions” unit of the Institut Pasteur since 2015. We are working together for more than 15 years on understanding the genetic and environmental factors associated with autism. 

To visit the Gillberg Neuropsychiatry Centre please go to http://gillbergcentre.gu.se/english

Pictures & Media


Thomas Bourgeron

Institut Pasteur
25 rue du Docteur Roux, 75015, Paris

e-mail : thomasb@pasteur.fr (cc. cbaran@pasteur.fr)
Phone : (33) 1 40 61 34 20
Fax : (33) 1 40 61 34 21