Sébastien Jacquemont

Sebastien Jacquemont is an associate professor at the University of Montreal and a clinical geneticist at the CHU Ste Justine Pediatric Hospital. His research tackles the widening gap between the tidal wave of gene discovery and our poor understanding of the effects of rare variants on neurodevelopmental and psychiatric traits. His group established cohorts of individuals who carried specific risk factors for psychiatric conditions such as the 16p11.2 European consortium. This showed that gene dosage at the 16p11.2 locus modulates cognition, behavior, brain structure and connectivity. The group has extended these investigations to rare recurrent and non-recurrent CNVs and SNVs genome-wide. Genetic scores and functional annotations at the microscale (e.g., gene expression in cell types) and macro-scale levels (e.g., spatial patterns of gene expression in the brain) are used to understand the effect of genomic variants on cognitive, behavioral, and neuroimaging traits. This framework enables the investigation of undocumented genomic variants too rare to be studied individually.

His group has also worked on large drug development programs and clinical trials in fragile X syndrome, a genetic condition associated with autism and intellectual disability