08:37am Monday 21 August 2017

NIH-Funded Study Discovers New Genes for Childhood Epilepsies

Researchers from the Epi4K project used advanced genetic techniques to search for mutations that are likely to be involved with severe childhood epilespies. This “heat map” helps describe some of their results. See paper for a detailed explanation. Courtesy of Epi4K-EPGP Investigators.A paper in Nature reports the discovery of as many as 25 epilepsy-causing mutations in new and previously identified genes. The National Institute of Neurological Disorders and Stroke (NINDS) of the National Institutes of Health (NIH), which supported the work as part of a $25 million program, described the research in a recent news release:

Researchers from the Epi4K project used advanced genetic techniques to search for mutations that are likely to be involved with severe childhood epilespies. This “heat map” shows some of their results. See paper for a detailed explanation. Courtesy of Epi4K-EPGP investigators.

A genetic study of childhood epilepsies has linked two new genes to severe forms of disease and provides a novel strategy for identifying therapy targets. This study used a cutting-edge genetic technique, called exome sequencing, to search for new mutations that are not inherited. The results suggest this may be a highly effective way to find and confirm many disease-causing gene mutations.

…The study is part of a worldwide, $25 million project, largely funded by the National Institutes of Health, called Epilepsy 4000 (Epi4K). Epi4K’s mission is to use the latest genetic techniques to sequence and analyze DNA from 4000 epilepsy patients and their relatives. To do this, the researchers and NIH staff involved organized a team of international research institutions devoted to the mission, called the Epilepsy Centers without Walls. This approach facilitates the sharing and analysis of DNA sequences and patient information among the dozens of institutions participating in the project. The study, published in Nature by the Epi4K and Epilepsy Phenome/Genome Project (EPGP) Investigators, found as many as 25 epilepsy-causing mutations in new and previously identified genes.

“These promising results highlight the strength of supporting large international research teams devoted to studying the genetics behind highly complex neurological disorders,” said Story Landis, Ph.D., director of NIH’s National Institute of Neurological Disorders and Stroke (NINDS).

…Epilepsy is a group of neurological disorders caused by abnormal firing of nerve cells in the brain which often produces debilitating seizures and a range of other symptoms. More than 2 million people in the United States suffer from epilepsies, and infants and children have a greater chance of having the disorders than adults. Although some studies have found genes associated with rare inherited forms of epilepsy, finding genes associated with the majority of epilepsies has been difficult.

Please click here to read NINDS’s news release about these findings.

Ruth Ottman, PhD, professor of epidemiology (in neurology and the Gertrude H. Sergievsky Center), at Columbia University’s Mailman School of Public Health and Columbia University Medical Center, was a primary investigator of two NIH grants (NS077276 and NS077367) that supported this work. Dr. Ottman is a member of both the Epi4K and EPGP teams.

Melodie Winawer, MD, associate professor of neurology in the Gertrude H. Sergievsky Center, is a member of the EPGP team that collected clinical information on the families analyzed in this research. Her work on this research was supported by an NIH grant (EPGP U01 NS053998).

Neither Dr. Ottman nor Dr. Winawer declares any financial or other conflicts of interests.

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