News Release: Research, School of Medicine

Sep. 11,  2009

New Strategies for Uncovering Schizophrenia Genes

Dissecting out individual genes linked to schizophrenia has been difficult, despite decades of research establishing an inherited component to the disease. People with a specific deletion on chromosome 22 (DiGeorge syndrome) have a high risk for schizophrenia.

Brad Pearce, PhD, an epidemiologist in Emory's Rollins School of Public Health, has received a grant from the National Institute of Mental Health through the American Recovery and Reinvestment Act (ARRA), and is working with several Emory colleagues to examine the genes missing in DiGeorge syndrome.  The team will study people with DiGeorge, patients with "typical" schizophrenia and people at high risk of developing schizophrenia.

The project is a good example of how geneticists are shifting from examining small, common mutations to "rare variants" when studying complex diseases. Genome-wide association studies usually focus on SNPs - single nucleotide polymorphisms - a one-letter change somewhere in the genetic code that is found in a fraction of the population. In many cases these SNPs have only a small effect on disease risk, however.

Researchers looking for the genes behind complex diseases such as schizophrenia and autism are starting to shift their efforts away from genome-wide association studies, says Steven Warren, PhD, chair of Emory's department of human genetics. Rapid sequencing technologies are allowing scientists to investigate rare variants like DiGeorge syndrome, which can substantially increase disease risk.

Pearce's stimulus-funded project will use DiGeorge syndrome as an entry point for identifying genes that, when they go haywire, are involved in schizophrenia.

For an interview with Dr. Pearce, view the video at:

To view a blog about this work:


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