The impact of CURE Epilepsy on epilepsy genetics over the years has been broad and provided the epilepsy community with many insights.

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** Special Edition: 25th Anniversary
CURE Epilepsy Discovery
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** CURE Epilepsy Discovery: CURE Epilepsy Funds Research to Investigate Mechanisms of Genetic Epilepsies
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The impact of CURE Epilepsy on epilepsy genetics over the years has been broad, ranging from the discovery of individual genes that are associated with epilepsy, to contributions in rare epilepsies, to the Epilepsy Genetics Initiative (EGI) ([link removed]) . In this
CURE Epilepsy Discovery, we highlight the efforts of EGI ([link removed]) and the centralized database to store and analyze genetic signatures associated with epilepsy; we also summarize its impact on people living with genetic epilepsies and the epilepsy research community.

In addition to the formation of a centralized database, CURE Epilepsy is also intently focused on identifying and funding cutting-edge research in epilepsy curing the epilepsies. This CURE Epilepsy Discovery article will outline the work of three CURE grants awardees: Dr. Heather Mefford ([link removed]) , her mentee Dr. Gemma Carvill ([link removed]) , and Dr. Carvill’s mentee Dr. Jeff Calhoun ([link removed]) . By funding these outstanding researchers investigating mechanisms underlying genetic epilepsies, CURE Epilepsy is actively supporting the development of the future generation of epilepsy researchers and scientists.

Dr. Heather Mefford is currently at St. Jude Children’s Hospital and received a CURE Epilepsy Award in 2019 ([link removed]) . As part of this grant, she investigated the causes of Developmental and Epileptic Encephalopathies (DEE). DEE are severe, early-onset epilepsy disorders that are associated with developmental delay and seizures that are resistant to treatment. A specific genetic cause can be correctly identified in about half of the cases of DEE, and this identification can be associated with a correct diagnosis and a favorable prognosis (course of the disease). Also, a proper diagnosis can help the clinician connect the family to appropriate support groups as well. However, about half of those with DEE are not accurately diagnosed, even with state-of-the-art genetic testing. Work done by Dr. Mefford’s team looked for a different cause in those with
DEE that are not diagnosed. Her team looked at abnormal methylation – a type of chemical modification in the DNA structure – in individuals with DEE that did not have a diagnosis or cause. Methylation is considered an “epigenetic” modification – these modifications are not hardwired into one’s DNA, but turn genes “on” and “off.” [5]
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Today's CURE Epilepsy Discovery has the ability to help the 65 million people worldwide
who are impacted by epilepsy every day.
And each one of those individuals has a story.
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Our mission is to find a cure for epilepsy, by promoting and funding patient-focused research. CURE Epilepsy is a non-profit 501(c)(3) tax-exempt organization.Our tax identification number is 36-4253176.
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