CURE Launches Epilepsy Genetics Initiative, First Foray Into Personalized Medicine

Organization: CURE Citizens United for Research in Epilepsy

About 3 million Americans currently live with epilepsy and of those, approximately 1 million do not respond to currently available treatments. Roughly 2.1 million do not know the cause of their epilepsy.

However, scientists have shown changes in our DNA can cause epilepsy. Your DNA is the unique code that makes you who you are and changes in that code can be good or detrimental. What if we can use genetics to diagnose and treat epilepsy?

Currently, epilepsy patients can have their DNA sequenced through their doctor via a certified lab. This testing looks for changes in their DNA code that may be causing their epilepsy. The kind of testing is called ‘exome sequencing.’ However, during this testing, the data are typically analyzed only once by the lab and the results are often confusing.

After a great deal of investigation and serious consideration, CURE embarked on a mission to develop what is now known as the Epilepsy Genetics Initiative (EGI). Partnering with other institutions and organizations including NINDS and Duke University, CURE created EGI to be a database where epilepsy patients, with the help of their doctors, can send their exome data and have them analyzed and reanalyzed in an effort to find the cause(s) of their epilepsy.

Any important findings, once validated, will be reported back to the patient’s doctor. But EGI doesn’t stop there. EGI will also allow patients to participate in research that will help scientists find new causes of epilepsy. This is done by allowing researchers to study all the DNA codes we collect in EGI – all confidentially of course.

EGI would help those such as Savannah Salazar, who has Lennox-Gastaut Syndrome, a type of epilepsy with no known cause. Over 16 years, Savannah suffered daily seizures, despite trying more than 26 different treatments.

Savannah’s mother, Tracy Dixon-Salazar, was a stay-at-home mother of two who never went to college but was determined to help her daughter and others like her. She spent 15 years pursuing her education and is now a PhD in neuroscience and a genetics researcher.

As part of her own research study, Dr. Dixon-Salazar sequenced her daughter’s DNA code and was able to determine where there were negative changes that might be driving her epilepsy. Savannah’s DNA code led her to a drug that might work for her – a calcium channel blocking drug. Dr. Dixon-Salazar decided to try Savannah on the medicine. At the time she was having 300 seizures per month; they were reduced by 95%. She even has seizure free days. Even more amazing is that Savannah would go into non-stop seizures (status epilepticus) 1-3 times per week before this drug and that stopped completely. She has had no non-stop seizures in two years.

Through EGI, CURE wants to make this kind of research available to everyone with epilepsy. The potential for targeted treatment for patients is vast. Dr. Dixon-Salazar would like to make Savannah’s DNA available in the repository so that other patients whose DNA is a match for the same treatment may also find relief from this devastating disease.

For information on enrolling in EGI, visit https://www.cureepilepsy.org/egi/patients.asp
For information partnering with EGI, visit https://www.cureepilepsy.org/egi/partners.asp