Sébastien Jacquemont is a medical geneticist at the CHU Ste-Justine, an associate professor at the Department of Pediatrics for the Faculty of Medicine at the University of Montreal and is a chairholder for the Canadian research chair of Genetics of Neuropsychiatric Disorders.

Dr. Sébastien Jacquemont’s research is about the genetics of neuropsychiatric disorders. His team combine genetics, neuroimaging, biomarkers, and the clinic to understand how genetic mutations can lead to neuropsychiatric symptoms and handicap in patients.

The team has a great emphasis on disorders associated to the mutation of the gene FMR1. In collaboration with other research groups, the team has identified a neurodegenerative illness associated to the premutation of the FMR1 gene (postural tremor and ataxia revealing a fragile X premutation). This triplet-expanding illness affects adults that have this premutation that develop an ataxia, an intentional tremor, a cognitive degeneration, neuropathy and Parkinson’s.

In collaboration with the industry and certain university groups, the Dr. Jacquemont and his team have also directed and developed the implementation of a series of controlled tests that aimed to evaluate experimental treatments for the Fragile X Syndrome. His tests constituted a new way of thinking and is one of the first to evaluate a treatment aiming a specific molecular mechanism implied in the neurodevelopmental disease.

The Dr. Jacquemont and his team also actively study the genomic structural variants (deletions and duplication) associated with autism and schizophrenia. Particularly, they study the effects of genic dosage on cognitive and behavioural symptoms as well as endophenotypes such as neuroanatomy. They work with an international cohort of individuals that have the structural variants of the chromosome 16 (16p11.2) (Source: Research Centre of the CHU Sainte-Justine).