Researchers led by Brain & Behavior Research Foundation 2010 NARSAD Young Investigator Grantee Frederick C. Nucifora, Jr., Ph.D., D.O., M.H.S. have identified a rare gene mutation in a family with a high rate of schizophrenia. The findings were published in the Jan. 22, 2013 Molecular Psychiatry.

"Understanding the molecular and biological pathways of schizophrenia is a powerful way to advance the development of treatments that have fewer side effects and work better than the treatments now available," says Dr. Nucifora, Assistant Professor, Psychiatry & Behavioral Sciences, Johns Hopkins University School of Medicine. "We could definitely use better medicines."

Identifying a mutation in a single family with mental illness does not establish causality, so Nucifora and team went further in their research to determine what impact the mutation has on the function of the gene (NPAS3), which controls the fate of many other genes involved in brain development and metabolism. To do this, the team used new technology that enables the growing of neurons “in a dish.”

"We showed that the mutation does change the function of NPAS3, with potentially harmful effects in neurons," says Nucifora. “The next step is to figure out exactly how the genetic disruption alters neuronal function and how these abnormal neurons influence the broader function of the brain."

The Hopkins research team also included Christopher A. Ross, M.D., Ph.D. and Russell L. Margolis, M.D., who have both been awarded multiple NARSAD Grants.

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