May 20, 2016

By Marcy D. Baer

Dr. Steven McCarroll, who led the research team responsible for a study that examines the gene that may be a risk factor for schizophrenia, will speak at this year’s NAMI National Convention, July 6–9 in Denver. Dr. McCarroll is an assistant professor in the Department of Genetics at Harvard Medical School and the Director of Genetics at the Broad Institute of MIT’s and Harvard’s Stanley Center for Psychiatric Research.

The research findings revealed in Dr. McCarroll’s analysis were published in the Feb. 11 issue of the journal Nature. Titled “Schizophrenia: From genetics to physiology at last,” the article reviewed how the study identifies “a set of genetic variations that are strongly associated with the risk of developing schizophrenia” and “provides insights into the neurobiology of this destructive disease.”

The basis of the research is a worldwide collection of DNA from more than 100,000 people to find genetic clues to mental illness. Called C4, the gene isolated by Dr. McCarroll and his team is known to work in the body’s immune system tagging viruses for destruction. Until now, the gene had no known role in the brain. A highly complex gene, C4 is difficult to identify because it takes various forms and structures in different people. Many researchers believe there is a strong relationship between the immune system and schizophrenia, so much of the work focused on finding that connection.

Research and collaboration among neurobiologists, immunologists and other genetic experts confirmed that C4 damages the brain because it accelerates a process called synaptic pruning. According to Dr. Bruce Cuthbert, acting director of the National Institute of Mental Health, in many cases synaptic pruning can help the brain. “It’s like clearing away the underbrush so your brain can function more efficiently,” he explains. “But in people with this overactive version of the gene,” Dr. Cuthbert continues, “it may be like having an over-energetic gardener who prunes back so much that the bushes die off because they don’t have enough branches.” Dr. Cuthbert views this study as a “genetic breakthrough,” and “a crucial turning point in the fight against mental illness.”

Dr. Eric Lander, a professor of biology at the Massachusetts Institute of Technology and founding director of the Broad Institute, believes this research may provide a new understanding of what causes schizophrenia in terms of brain biology. “For the first time,” Lander says, “we’re opening the ‘black box,’ looking inside, and seeing how the disease really arises. In my opinion, this study is the most important paper in schizophrenia since the disease itself was defined more than a century ago.”

While such science may take years to translate into treatments, Dr. McCarroll is optimistic. “The finding connects all these dots, all these disconnected observations about schizophrenia, and makes them make sense,” he says.

You can hear Dr. McCarroll’s presentation as part of the NAMI Convention’s Research Plenary on Saturday, July 9, from 8:45 to 10:30 a.m. For more information and to register for the NAMI National Convention, go to

Marcy Baer is a communications and marketing professional who volunteers for NAMI.

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