Be a Part of History: The Epilepsy Phenome Genome Project is the largest epilepsy study of its kind.

By Lisa Boylan, Editor, EpilepsyUSA

Do you have epilepsy? Does your brother or sister have epilepsy? If you answered yes to both of these questions, you may be eligible to participate in the first and largest study of its kind to identify the genes that influence the development of epilepsy and genes that modify the response to epilepsy. A team of scientists recently received a $15 million grant from NIH to conduct the Epilepsy Phenome Genome Project (www.epgp.org) over a 5-year period. They will strive to understand the causes of epilepsy that occur for no obvious reason, and the factors that determine why medications do or do not work for specific individuals.

The goal of EPGP is to collect, anonymously, a repository of clinical and genetic information on siblings with epilepsy in order to improve the diagnosis and treatment of epilepsy. Researchers at 13 epilepsy centers around the country are looking for siblings who both have epilepsy to make the genetic analysis more powerful. Daniel Lowenstein, M.D., professor and vice chairman in the Department of Neurology at the University of California, San Francisco, and a principal investigator in the study said, “For us to reach our goal in EPGP, this has to be a giant collaboration among all of the people with epilepsy in our country.”

Dr. Lowenstein said one of the biggest challenges in the care and treatment of people with epilepsy is the difficulty in predicting what type of drug will be most effective and also what the potential side effects of that drug might be. He said, “It’s quite clear that a person’s genetic makeup is an important determinant of those two issues.”

The idea for the study began germinating at NIH’s first Curing Epilepsy conference in 2000 where one of the benchmarks was to carry out a large phenotype/genotype study in patients with epilepsy. This type of study compares a person’s genetic code to the physical expression of a disease. Dr. Lowenstein said, “Our dream is that, in the not-too-distant future, we will be able to do a gene profile before we ever make a decision about which drug to use on a patient.” He said that information would help guide doctors in choosing medications that are more effective and cause fewer, if any, side effects for patients.

Participation

Participation involves donating a blood sample and answering questions about your epilepsy. If you would like to participate in EPGP call: 888-279-EPGP (toll-free), or visit www.epgp.org for more information.