NIH helps fund epilepsy research

While epilepsy, like many diseases, has many causes, Penn researchers hope to understand how genetics play a role in the development of the disease.

And a National Institutes of Health grant will set the Penn team on its way.

Psychiatry professor Russell Buono was recently awarded a four-year, $2 million NIH grant to establish a genetic connection among the most common forms of epilepsy.

The Hospital of the University of Pennsylvania, along with Thomas Jefferson University Hospital, the Children's Hospital of Philadelphia, University of Cincinnati Medical Center and the Children's Hospital of Cincinnati will partake in extracting DNA samples from 1,500 epilepsy patients.

"We are trying to do is basically find a genetic cause for the epileptic seizures," Buono said. "We are going to collect DNA code from patients with seizures and see what DNA they have in common."

For the nervous system to function, an ion balance must be maintained between nerve cells. Current scientific thinking holds that seizures result when there is an ionic imbalance.

Every year, the researchers will collect 125 DNA samples from patients of the three most common seizures -- juvenile myoclonic epilepsy, temporal lobe epilepsy and childhood absence epilepsy -- along with a fourth control group. Another 3,500 samples over four years will be taken from the patients' immediate family members.

By analyzing the similarities among the seizure patients, taking into account the genes of the control group and the non-epileptic relatives, Buono and the team of researchers hope to possibly pinpoint certain genes responsible for the seizures.

"This is the direction that science wants to head in, that of solving patient problems," Buono said.

Once a more specific genetic cause can be pinpointed, the researchers plan to work on developing a comprehensive analysis on anti-seizure drugs. Currently, there is a trial-and error component of prescribing drugs because patients do not respond to all medications.

"The reason why people respond to these drugs are genetic," Buono said. "Once we isolate some of the genetics behind it, doctors can make better decisions by knowing through a blood test that drug A won't work."

Due to the sheer size of the study, challenges might arise.

Because the clinicians are on the front line dealing with patients, those involved with seeing the patients will need to spend extra time describing the study to both subjects and their relatives.

In addition, the project's size will require additional technicians to analyze the DNA once it is collected.

However, because many epileptic patients are children, Buono said that "parents are extremely helpful and sometimes can't wait to roll up their sleeves to help their kids."

Buono became interested in the field by working on several projects with Medical School professors Wade Berrettini and Thomas Ferraro.

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