“The genetics of autism from risk to resilience”
Thomas Bourgeron, PhD, MS
Universite de Paris, CNRS, Insitut Pasteur
Abstract: The heritability of autism is high (>80%), but the genetic architecture is complex made of a combination of common and rare variants. Our previous studies pointed at one biological pathway associated with autism related to the synapse. Among the causative genes, synaptic cell adhesion molecules (neuroligins and neurexins) and scaffolding proteins (SHANK) are crucial for synapse formation/maintenance as well as correct balance between inhibitory and excitatory synaptic currents. 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 deleterious mutations seem to be protected (The Resilients) while others are severely affected.
Wednesday, December 9, 2020 at 12:00 pm (Noon)
Free and open to the public - email Conte@Harvard.edu for the zoom info