Abstract

The genetic contribution to autism is high (>80% of heritability), but its architecture involves a complex combination of rare and common variants. Autism shares genetic variations with other conditions such as attention deficit hyperactivity disorders (ADHD), intellectual disability, and epilepsy, but little is known about the factors that contribute to the diversity of the clinical trajectories. In this presentation, I will introduce recent results that shed new light on the inheritance of autism and on some of the underlying mechanisms. For example, I will illustrate how genes associated with autism shape brain anatomy and connectivity by regulating gene expression and synaptic function. Finally, I will present how the R2D2 -MH project (Risk, Resilience and Developmental Diversity in Mental Health) is using participatory research 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. In summary, this integrated and participatory research aims to provide each person with the assessments, treatments, and accommodations their specific neurodevelopmental profile requires.