Abstract

Our group identified the first genes associated with autism pointing at a key role of the synapse in this complex condition. These findings underscore the genetic diversity of autism while revealing shared biological mechanisms. The genetic architecture of autism involves a complex combination of de novo, rare and common genetic variants shared with other traits such as attention deficit hyperactivity disorders (ADHD), cognitive skills, and epilepsy. In this presentation, I will introduce recent results that shed new light on different subgroups of people with autism and how they differ at the clinical, brain imaging and genetic levels. I will also illustrate how we can explore synaptic genes such as SHANK2 and SHANK3 and their roles in cognition and social motivation. Finally, I will present how we are currently using participatory research to study Risk, Resilience and Developmental Diversity in Mental Health (The R2D2-MH project) to understand why some carriers of genetic variants seem to be protected from adverse symptoms while others have more difficulties to thrive in the society.

Video Recording