Special Research Initiative in Genetics

Leading scientists believe that genetic research offers one of the most promising routes to prevention and cure of epilepsy.

In response, the Epilepsy Foundation established a $1 million research program in 2000, targeted to genetic studies.

The purpose of the program is to stimulate research into the causes of epilepsy, and to promote development of genetic therapeutic approaches that will lead to a cure.

The recipients of the 2002 grants were announced recently. This year's recipients are:

Ming Xu, PhD — University of Cincinnati
"c-Fos Regulated Molecular Changes in Seizure Susceptibility and Neuronal Protection"
We genetically engineered a mouse missing a key regulator for cellular gene expression in a part of the brain. This unique c-Fos-less mouse exhibits increased seizure activity and neuronal cell death. We propose to combine the use of this mouse model with modern research tools to identify c-Fos regulated genes that may cause increased seizure susceptibility and neuronal cell death.

William Agnew, PhD — Johns Hopkins University School of Medicine
"Alternative RNA Splicing of Pacemaker Calcium Channels in Human Seizure Disorders"
We will examine structural variations of 3 human calcium ion channels that cause spontaneous electrical firing in brain neurons, to determine whether abnormal expression of newly discovered fetal forms occurs in epileptic tissues of adults and younger patients. Anomalously expressed channels could provide selective targets for anti-seizure drug design.

Scott Baraban, PhD — University of California, San Francisco
"Genetic Analysis of Seizure Resistance"
Some individuals are resistant to the development of seizures. We propose a novel strategy, using mutagenized zebrafish, to identify genetic determinants of seizure resistance. Our studies promise to provide potentially new avenues for the development of treatments that will prevent (not ameliorate) the generation of seizure activity.

Mark Tanouye, PhD — University of California, Berkeley
"Seizure Suppressor Genes in Drosophila: Discovery and Molecular Analysis"
We work on the laboratory fruit fly, Drosophila. We have previously discovered several mutants that are abnormally sensitive to seizures and in many ways resemble human epilepsy. Here we will discover new mutations that "cure" fruit fly epilepsy. We call the genes corresponding to these new mutations "seizure-suppressor" genes.