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CMSRU researchers help discover 11 new epilepsy genes

Russell J. Buono, PhD, and Thomas N. Ferraro, PhD, professors in the department of biomedical science at Cooper Medical School of Rowan University (CMSRU), collaborated on an important study published December 10 in Nature Communications that identifies 11 new epilepsy genes not previously linked to the disease. The discovery triples the number of known susceptibility genes for epilepsy and provides critical clues for further research.

The renowned CMSRU neuroscientists are members of the International League Against Epilepsy Consortium on Complex Epilepsies, a worldwide consortium to identify genes that cause epilepsy. More than 150 researchers from multiple research institutions in the United Kingdom, Europe, United States, Brazil, Hong Kong and Australia belong to this consortium. The group has performed a genetic study on over 15,000 people with epilepsy, comparing them to over 30,000 healthy control individuals.

“Epilepsy is a common neurological disease with a controversial past, in which its cause was unknown and often shrouded in mystery,” explains Buono. “Thanks to prior research, we now understand that the cause of epilepsy is strongly genetic; however, little is known about the specific genes responsible for common forms of the disease that affect most patients.”

The team believes that learning more about the genetic factors that predispose people to epilepsy is very important since one-third of the 65 million epilepsy patients worldwide continue to experience seizures despite receiving treatment. “Genetic discoveries can lead to new therapeutic strategies,” says Ferraro.

The newly-identified epilepsy genes have a variety of functions in the human body, including regulation of signals between brain cells, conversion of vitamin-B6 into its active form, and control of brain gene expression. The research also found that most of the 30-plus currently-approved anti-epileptic drugs interact with one or more of the newly-identified genes, and discovered an additional 166 drugs that do the same.  

“These drugs are promising new candidates for treating patients with epilepsy, as they directly target the genetic basis of the disease,” adds Buono. “By extending the results of this work, we hope that, in the future, more people with epilepsy will be treated successfully with medication.”

Buono and Ferraro currently lead the Philadelphia Consortium (a group of seven clinical sites), where NIH-funded projects supported the collection of epilepsy patient DNA samples from 2001-2006, and again from 2009-2012. The Philadelphia Consortium contributed over 2000 epilepsy DNA samples used in this study and over 4000 healthy control samples. 

CMSRU, in partnership with Cooper University Health Care, is the eighth clinical site to join the Philadelphia Consortium. An IRB approval is in place to begin collecting epilepsy patient tissue samples at Cooper beginning in 2019.