Treating children with epilepsy has traditionally been a matter of trial and error, trying different drugs one after the other. In the one-third of patients for whom the drugs do not work and seizures continue, doctors consider brain surgery — if it can be done safely. Early in her career, Ann Poduri, MD, MPH, who directs the Neurogenetics and Epilepsy Genetics programs at Boston Children’s Hospital, wondered: What could be learned from the brain tissue removed during surgery? Could it yield a better genetic understanding of epilepsy?
“If we could know what caused epilepsy for these individuals, maybe we could actually treat them with science on our side,” she says.
When Poduri was in medical school in the late 1990s, only three or four epilepsy-related genes were known. Today, through work in her own lab and many others, that’s swelled to more than 800.
