Thomas Bourgeron is a Visiting Professor at the Gillberg Neuropsychiatry Centre. He is a member of the European Molecular Biology Organisation (EMBO), a member of the French academy of Science and of the Academia Europaea. He is the PI of the genetic work package of the EU-AIMS, the largest European project on autism research. After a Master in the field of plant biology, Thomas Bourgeron obtained his Ph.D. in human genetics to study mitochondrial diseases. He identified the first mutations of the Krebs cycle (FH) and of the nuclear genes of the respiratory chain (SDHA) in humans. He then obtained a position as Professor at the University Paris Diderot and established a laboratory at the Institut Pasteur to study the genetics of autism spectrum disorders (ASD). In 2003, he identified the first biological pathway associated with ASD that includes synaptic cell adhesion molecules (NLGN3, NLGN4, NRXN1) or scaffolding protein (SHANK2 and SHANK3). These proteins are crucial for appropriate synaptic function. His group also identified genetic mutations disrupting melatonin synthesis, which could contribute to the sleep problems observed in individuals with ASD. In parallel, he characterised the deficits in social communication of several mouse models of ASD lacking synaptic proteins such as SHANK2 or SHANK3. His present research is focused on the genetic architecture of ASD. His approach combines the state of the art genetics (such as whole genome sequencing) with original phenotyping approaches using brain imaging, biochemistry, induced pluripotent stem cells (iPSC) and in-depth clinical evaluations of the patients as well as the unaffected relatives. His multidisciplinary group of geneticists, neurobiologists, and clinicians, aims to provide knowledge-based discoveries for a better diagnostic, care, and integration of individuals with autism.

 Neuropsychiatry