MPI Colloquium Prof. Thomas Bourgeron

Phenotypic effects of genetic variants associated with autism beyond diagnosis

Abstract

The heritability of autism is high (>80%), but the genetic architecture is complex made of a combination of common and rare variants. Some conditions such as autism, attention deficit hyperactivity disorders (ADHD), intellectual disability (ID), epilepsy share genetic variants, and the factors contributing to the diversity of the clinical trajectory remain largely unknown. Our previous studies pointed at one biological pathway associated with autism related to synapses. In this presentation, I will discuss our recent results coming from human studies in large populations and genetic isolates as well as mouse studies that shed new light on the inheritance of autism and some of the underlying mechanisms. Finally, I will illustrate how we are currently studying Resilience to understand why some carriers of mutations seem to be protected from adverse symptoms while others are severely affected.

Short Biography 2022

Having begun his research investigating mitochondria in plants and neurological diseases, Thomas Bourgeron discovered the first NLGN3, NLGN4X and SHANK3 mutations associated with autism highlighting the main role of the synapse in this complex condition. His laboratory gathers psychiatrists, neuroscientists and geneticists to understand the interplay between common and rare variants in autism. He is leading the genetic and database work packages for several national and European projects, including AIMS2-Trials, CANDY and R2D2-MH, the largest European projects dedicated to research on autism. These projects are focused on deep-phenotyping of individuals with autism, neurodevelopmental disorders (NDD) and controls including brain imaging (EEG and MRI) and cognitive tests. His group is currently developing new methods for analysing whole genome and brain imaging data as well as new paradigms for characterizing mouse social and vocal behaviours. He is a member of the European Molecular Biology Organisation (EMBO), the French Academy of Sciences and the Academia Europaea. His aim is to provide knowledge-based discoveries for a better diagnostic, care and integration of individuals with autism and neurodevelopmental disorders.

Web site: https://research.pasteur.fr/en/team/human-genetics-and-cognitive-functions/