Catalyst Award
Janet van Eersel, PhD / Macquarie University
In this study, the team will optimize a gene therapy for potential human clinical studies.
Rare Epilepsy Partnership Award
Naomi Dirckx, PhD / Washington University in St. Louis
Genetic changes in the solute carrier family 13 member 5 (SLC13A5) gene, a protein that transports citrate (a key nutrient) into cells, can cause epilepsy starting at a young age. Children with these genetic changes develop seizures within a day of being born and have neurodevelopmental delays. Dr. Dirckx will study how mutations in SLC13A5 affect how the brain processes energy and nutrients.
Rare Epilepsy Partnership Award
Heather Mefford, MD, PhD / St. Jude Children’s Research Hospital
In this study, Dr. Mefford and her team aim to study certain episignatures in different cell types to learn how these patterns relate to the problems seen in CHD2-related disorders.
Rare Epilepsy Partnership Award
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 NORSE.
Rare Epilepsy Partnership Award
Michael Talkowski, PhD / Massachusetts General Hospital
Dr. Talkowski and his team propose to create a complete map of structural genetic changes, DNA methylation patterns, and gene expression changes in Ring14 syndrome.
Rare Epilepsy Partnership Award
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.
CURE Epilepsy Award
Sanjay Sisodiya, PhD, FRCP / University College London
For this project, the team will build on their preliminary findings by comparing genetic information from people who sadly succumbed to SUDEP with that from a matched group of living people with epilepsy.
Taking Flight Award
Vishnu Cuddapah, MD, PhD / The Children’s Hospital of Philadelphia
Dr. Cuddapah will use a fruit fly (Drosophila) model to identify mechanisms that tie sleep disruption to increased seizure severity.
CURE Epilepsy Award
Berge Minassian, MD / The University of Texas Southwestern Medical Center
Results from this project will lead to initial data on a possible treatment for a devastating form of epilepsy.
