“Progress in Understanding the Genetic Basis of Mental Illnesses”
Benjamin Neale, PhD
Associate Professor, Harvard Medical School
Massachusetts General Hospital
Stanley Center for Psychiatric Research,
Broad Institute

Abstract: The past decade has seen rapid progress in mapping genetic risk factors for autism, schizophrenia and bipolar disorder. In this talk, Benjamin Neale reviews this progress, delving into how study designs and genetic variants are teaching us about different aspects of mental health. Two recent studies realize the promise of human genetics to transform our understanding of and treatment for common disorders, such as autism. First, we report results from the Bipolar Exome (BipEx) collaboration, which found an excess of ultra-rare protein-truncating variants in patients with AKAP11 emerging as a definitive risk gene that interacts with GSK3B, the hypothesized target of lithium, a primary treatment target.  Second, we demonstrate that genes prioritized from common variant analyses of schizophrenia are enriched in rare variant risk, suggesting that common and rare genetic risk factors converge at least partially on the same underlying pathogenic biological processes (eg. the glutamatergic system). More risk genes await discovery using this approach.

Wednesday, June 01, 2022 at 12:00 pm

Free and open to the public. Email Conte@Harvard.edu for zoom info