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New Insight into the Genetics of Schizophrenia

The findings highlight the role that rare duplications and deletions play in disease.
March 28, 2008

New research suggests that a number of rare DNA deletions and duplications contribute to schizophrenia, potentially providing a new model for the genetic basis of the disease. The findings also highlight the importance of new technologies that allow scientists to efficiently scan the genome for small structural changes.

According to the New York Times,

Experts said the study, while not identifying the cause of the disorder, provided a striking demonstration of how new gene-scanning technology can open a new frontier in the quest to understand the biology of mental disorders.

While scientists have long known that schizophrenia has a genetic component, pinning down specific genes has been difficult. The new findings may explain why. Researchers compared genetic duplications and deletions in healthy people’s genomes with those of people with schizophrenia. They found that these changes were three times more likely to appear in the genomes of people with schizophrenia. But each individual mutation was rare, with some seen only in single individuals or families.

From the New York Times:

The new study suggests that, if anything, the genetics of the disorder are even more complex than many had presumed. But if replicated, experts said, the study’s results will significantly alter the course of psychiatric research.

“This paper represents a paradigm shift in the way we think about identifying genes in schizophrenia,” said Dr. Matthew State, director of the neurogenetics program at Yale University School of Medicine, who was not involved in the research. “That is what the authors say in the paper, and it’s true.”

The findings were published online in the journal Science.

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