Rare Epilepsy Partnership Award Grantees - $100,000 over one year
This award supports the development of necessary research tools, techniques, model systems, and data collection platforms to stimulate and accelerate research on rare epilepsies. Each award is co-funded by CURE Epilepsy and one or more rare epilepsy advocacy groups.
Naomi Dirckx, PhD
Washington University in St. Louis
Dr. Dirckx will focus on understanding whether mutations in a gene called SLC13A5 affect how nutrients move between neuronal and supportive brain cells, leading to defective energy production, and causing seizures.
Learn More About this Grant Co-Funded by TESS Research Foundation
Hing Lee, PhD
Boston Children’s Hospital
In this study, Dr. Lee will test whether gene replacement therapy, a treatment aimed at delivering normal copies of the SLC6A1 gene to the brain, can improve symptoms in mice lacking the SLC6A1 gene.
Learn More About this Grant Co-Funded by SLC6A1 Connect
Heather Mefford, MD, PhD
St. Jude Children’s Research Hospital
People with CHD2-related neurodevelopmental disorders share certain patterns in their DNA, called episignatures, that can be used to diagnose or classify genetic variations. In this study, Dr. Mefford and her team aim to study these episignatures in different cell types to learn how these patterns relate to the problems seen in CHD2-related disorders.
Learn More About this Grant Co-Funded by Coalition to Cure CHD2
Vincent Navarro, MD, PhD
Sorbonne University, Paris Brain Institute
This study aims to explore whether there are clinical signs, brain imaging markers, or certain molecules in the blood and cerebrospinal fluid that can help us predict who might develop epilepsy after new-onset refractory status epilepticus (NORSE).
Learn More About this Grant Co-Funded by NORSE Institute
Michael Talkowski, PhD
Massachusetts General Hospital
Dr. Talkowski and his team propose to create a complete map of structural genetic changes, DNA methylation patterns (changes to DNA that can determine whether genes are turned on or off), and gene expression changes in Ring14 syndrome.
Learn More About this Grant Co-Funded by Ring14 USA