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More than a Hundred Genetic Variants Tied to Schizophrenia

A multinational research collaboration has identified more than 100 genetic loci associated with an increased risk for the psychiatric disease.
July 22, 2014

To a large extent, schizophrenia and other psychiatric disorders are illnesses caused by genes. Now teams of scientists from research centers around the world, looking at the genetics of nearly 80,000 people, have worked together to identify 108 genetic loci associated with the disorder. It is the largest genetic study ever conducted of a psychiatric disorder.

Researchers are finally beginning to gain some scientific understanding of many common brain disorders, including schizophrenia (see “Shining a Light on Madness”). The lack of such understanding to date has meant there hasn’t been a true new breakthrough drug to treat these disorders in 50 years. And while we’re still far from turning new insights into effective and safe drugs, at least the emerging knowledge is giving researchers some options in exploring potential treatments.

In today’s study, published in Nature, the scientists pointed out that, importantly, the more than 100 variants were not randomly distributed but tend to affect genes expressed in certain tissues and cell types. That’s good news because it suggests that despite the genetic complexity, drug researchers might be able to zero in on specific common pathways or types of cells in attempts to tackle these disorders.

In announcing the results, leading scientists at the Broad Institute, one of the groups in the collaboration, touted the results as a turning point in how we view brain disorders. “Five years ago, we didn’t know a single gene related to these [psychiatric] diseases, not a [single] pathway,” said Eric Lander, Broad’s director. It was a perspective echoed by Steven Hyman, director of Broad’s Stanley Center for Psychiatric Research: “We’ve turned with this Nature paper [and related research] what had been a scientifically forbidding and featureless landscape into a landscape with toeholds and opportunities and glimmers of hope.”

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