Here’s how Jacquemont describes what he’ll discuss during the session:
Testing for genetic variants in individuals at risk for autism and related neurodevelopmental disorders is now relatively widespread in clinical practice, and case-control studies have associated many variants with one of these conditions. The mechanisms by which these genes lead to a psychiatric disorder remain unknown, however, and interpreting the meaning of these variants in the clinic is, at best, an approximation.
Our research focuses on understanding the nature and effect size of cognitive, behavioral and neural changes underlying the association between genetic variants and psychiatric disorders. As a test case, we study copy number variants (duplications and deletions of stretches of DNA) in the chromosomal region 16p11.2. Our group is also interested in translating mechanisms into treatment, and we have been active in clinical trials evaluating the efficacy of mGluR5 antagonists in fragile X syndrome.
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