In the last 20 years, there was a tremendous progress in identifying genetic factors associated with several brain conditions such as intellectual disability, epilepsy, autism, schizophrenia and AD. If genes involved in the developmental process of neuronal communication are now well accepted as susceptibility factors for several of these conditions, many key questions remain unanswered: (i) Which specific brain processes are involved? (ii) How carriers of similar genetic variations have different diagnosis? (iii) What are the genetic and environmental factors that influence the clinical trajectories of the patients (some are severely affected and some are not)? To address these questions, we will investigate the impact of rare genetic variations in genes associated with these conditions on brain function and mental health outcome in the context of the genetic and the environmental background of the individuals. Beyond improving our understanding of the biological causes of these disorders, our project should also enable us to provide better diagnostic tools and inclusion as well as less stigma on the carriers of these genetic variations.
