Two international studies led by Broad scientists have revealed some of the strongest genetic risk factors for schizophrenia and bipolar disorder.

A Pivotal Moment in Psychiatric Research

Compared to other diseases, like cancer and cardiovascular disease, the biological roots of psychiatric disorders have long been shrouded in mystery. However, recent studies led by scientists at the Stanley Center for Psychiatric Research at the Broad Institute are shedding new light on the biological underpinnings of these diseases—a critical step towards eventually finding new diagnostics and treatments.

In a landmark study of more than 121,000 people, an international consortium led by Stanley Center researchers, called SCHEMA, identified extremely rare protein-disrupting mutations in 10 genes that strongly increase an individual's risk of developing schizophrenia. A second, complementary study conducted by the Psychiatric Genomics Consortium, brings the number of regions of the genome associated with schizophrenia risk to 287, including ones containing genes identified by SCHEMA. These studies underscore an emerging view of schizophrenia, long postulated by Stanley Center scientists, as a breakdown in communication between neurons.

Meanwhile, another genetics study led by Stanley Center scientists uncovered the first gene, AKAP11, to have a large effect on the risk of developing bipolar disorder. Though these genetic variations for bipolar disorder and schizophrenia are rare, their outsized impact provides the strongest clues yet to the biological mechanisms underlying these severe mental disorders, which remain shrouded in mystery. Work is currently underway at the Broad and beyond to understand the biology impacted by these genetic mutations.

Learn more here.

Support for the SCHEMA study was provided by the National Institute of Mental Health, the National Human Genome Research Institute, the Stanley Family Foundation, Kent and Elizabeth Dauten, the Dalio Foundation, and other sources.

Support for the Psychiatric Genomics Consortium study was provided by the National Institute of Mental Health and other sources.

Cover photo credit: Heather de Rivera, Broad Institute, McCarroll Lab