It’s in the Genes: Understanding Genetic Variants Involved in Neuropsychiatric Disorders
Scientists use genome-wide analysis methods to identify mutations that cause human disease. Many new genetic variations associated with psychiatric disorders have been identified recently, but exactly how they lead to neuropsychiatric disease remains unknown—and is the subject of research by Dr. Sébastien Jacquemont, Canada Research Chair in Genetics of Neuropsychiatric Disorders.
Jacquemont’s research focuses on families with rare genetic mutations that lead to neurodevelopmental disorders like autism, schizophrenia, speech and language impairment, or learning disabilities. These disorders affect more than 5 percent of the general population, and are a significant public health burden. Jacquemont and his research team are investigating how genetic mutations change cognition, behavior and energy balance in these patients by measuring their effects and studying how they shift according to different family backgrounds and environments.
Jacquemont is interested in general patterns of cognitive and behavioral difficulties rather than in a single specific diagnosis. This is because the criteria that currently define neuropsychiatric diagnoses do not capture the whole spectrum of associated disorders or disabilities.
Establishing cohorts of individuals carrying specific mutations offers a promising way to study common neuropsychiatric diseases. Ultimately, this research could lead to successful treatments targeting specific mechanisms involved in neuropsychiatric disorders.