UCSF-led team receives $15 million to study genetics of epilepsy

hose at risk.

Because the approach to teasing apart the more complicated genetic factors in epilepsy requires a very large number of patients whose epilepsy has been extremely well-characterized, the investigators will enroll 3,750 patients and 3,000 people who do not have the disorder so-called "controls" used for comparison -- over the course of the study.

Details about each patients disorder type of seizures, results of electroencephalograms and imaging studies, and effects of treatment -- will be collected and archived in a central data repository at UCSF, and all participants will be asked to submit a sample of blood or saliva as a source of their DNA. (All the clinical information and the DNA samples will be de-identified so that it cannot be traced back to a specific individual.)

Once this first phase of the study is completed, Neil Risch, PhD, and colleagues in the UCSF Institute for Human Genetics, along with researchers at Emory University, will carry out "whole genome scans" and look for potential connections between patterns of DNA sequences and specific characteristics of epilepsy in the study population.

"This is an extremely exciting step in the effort to illuminate the underlying causes of the common forms of epilepsy," says Risch, UCSF Lamond Distinguished Professor in Human Genetics. "The endeavor illustrates the type of research now taking place in human genetics thanks to advances in technology and our understanding of the human genome."


Contact: Jennifer OBrien
University of California - San Francisco

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