Epilepsy Genetics Initiative (EGI) bridges the gap between people with epilepsy, clinicians, and researchers with a centralized database to hold the genetic (exome) data of people with epilepsy. The data will be made available to the patient’s care team to advance research efforts and precision medicine.
As the need for genetic testing has become more evident, EGI has partnered with the LGS Foundation, whose mission is to improve the lives of individuals affected by Lennox-Gastaut Syndrome (LGS) through research, programs, and education. The partnership has been designed as a pilot program between the organizations to help those diagnosed with Lennox-Gastaut Syndrome receive genetic testing to find causes to this severe form of epilepsy.
To start, the program will enable 63 individuals with LGS and their family members to receive free genetic testing through an EGI enrollment site, which involves a blood test that is ordered by your doctor.
“EGI is an exciting initiative that may help patients and their families, as well as researchers, understand the cause of seizures," said Laura Lubbers, PhD, Chief Scientific Officer for CURE. "Ultimately, this information may lead to better treatments and one day a cure for those struggling with epilepsy. CURE is delighted to have the opportunity to work closely with the LGS community to help better understand this devastating disorder."
"Approximately 30% of individuals who are diagnosed with LGS don't know what their cause is," says Melanie Huntley, PhD, President of the LGS Foundation. "Whole exome sequencing helps researchers to identify genetic problems that can provide clues to why they started to have seizures and developmental delay. Once we know this information, we are hopeful that new treatment options can be developed to target problematic genes, which can hopefully lead to a better prognosis."If your loved one has already received exome sequencing, you can still be a part of EGI without enrolling in the LGSF/ EGI pilot study. If you have not yet received whole exome sequencing and are interested in enrolling in the LGSF/ EGI pilot, please visit www.lgsfoundation.org/egi or www.cureepilepsy.org/egi for eligibility and criteria.