In a first-of-its-kind schizophrenia study, Brain & Behavior Research Foundation NARSAD Grantees Anne Bassett, M.D., F.R.C.P.C.; Janice Husted, Ph.D.; Eva W.C. Chow, M.D.; Christian R. Marshall, Ph.D. and colleagues at the Centre for Addiction and Mental Health (CAMH) in Toronto, Canada, used clinical DNA testing of 459 Canadian adults with schizophrenia. They discovered rare genetic alterations that may contribute to onset of the disease. Several of these same genetic lesions had previously been found to have causal links to autism spectrum disorder (ASD) and several are newly discovered as linked to schizophrenia, including lesions on chromosome 2.
"We found a significant number of large rare changes in the chromosome structure that we then reported back to the patients and their families," said Dr. Anne Bassett, Director of CAMH's Clinical Genetics Research Program and Canada Research Chair in Schizophrenia Genetics and Genomic Disorders at the University of Toronto. "In total, we expect that up to eight percent of schizophrenia may be caused in part by such genetic changes—this translates to roughly one in every 13 people with the illness."
These findings, published online on June 27, 2013 in Human Molecular Genetics, suggest that DNA testing may be helpful in early detection and treatment as well as in de-stigmatization of schizophrenia.
The research team also developed a systematic approach to the discovery and analysis of new, smaller rare genetic changes leading to schizophrenia, which provides dozens of new leads for scientists studying the illness. “Moving forward, we will be able to study common pathways affected by these different genetic changes and examine how they affect brain development—the more we know about where the illness comes from, the more possibilities there will be for the development of new treatments," says Dr. Bassett.