Research done by Peter F. Buckley, MD, chancellor of the University of Tennessee Health Science Center, has contributed to two watershed data analyses that begin to clarify the genetic architecture of schizophrenia.
Published as two companion papers in the prestigious journal Nature, the papers describe a large, multisite collaboration with researchers from almost 48 institutions internationally conducting genetic analyses on composite and complementary samples of 320,400 individuals and 121,000 individuals. The group identified 287 regions of the genome associated with schizophrenia risk and also discovered extremely rare mutations in 10 genes that are linked to substantial risk for schizophrenia. The results point to how schizophrenia may have its origins in breakdowns in communication at the level of the synapse.
“We have known for over 100 years that schizophrenia runs in families, and therefore has a strong genetic component,” Dr. Buckley said. “The ability to use large, state-of-the-art, genetic samples and sophisticated analytic techniques now enables us to also understand the molecular signature of schizophrenia.”
Collectively, this diverse group of researchers has worked for 10 years gathering and comparing DNA from thousands of individuals with and without schizophrenia, from diverse global populations, including European, Latin American, East Asian, Ashkenazi Jewish, and African American ancestry. The research teams conducted genome-wide association studies cataloging common genetic variations contributing to risk of schizophrenia. The present study found variants that prevent cells from producing a gene’s full-length functional protein, provocative genetic evidence that defects in glutamate signaling are involved in schizophrenia.
A psychiatrist and international expert in schizophrenia, Dr. Buckley’s research predominantly focuses on the neurobiology and treatment of schizophrenia. He is a Distinguished Fellow of the American Psychiatric Association (APA), and an expert on the APA’s workgroup on Treatment Guidelines for Schizophrenia, published in 2020. He has served a member of the Board of the Schizophrenia International Research Society and on the executive committee of the International Congress on Schizophrenia Research. Dr. Buckley is also active as an expert reviewer for the National Institute of Mental Health.