Taking Flight Award
Chris Greene, PhD / Trinity College Dublin
For this project, Dr. Greene will explore genetic changes leading to breakdown of blood-brain barrier integrity in a mouse model of drug-resistant epilepsy with the goal of identifying changes that are associated with the development of drug resistance.
Rare Epilepsy Partnership Award
Ype Elgersma / Erasmus University Medical Center (Erasmus MC)
Dr. Elgersma’s team proposes to develop a new mouse model to study the interaction and dose effect of these genes.
Rare Epilepsy Partnership Award
Jillian McKee, MD, PhD / The Children's Hospital of Philadelphia
Dr. McKee’s project aims to understand the natural history and genetics of SCN8A-related disorders. Her team will use data from electronic medical records (EMR) to understand the full range of clinical features over time.
Rare Epilepsy Partnership Award
Hans von Bokhoven, PhD / Stichting Radboud Universitair Medisch Centrum (Radboudumc)
Dr. von Bokhoven and his team propose to restore normal KANSL1 levels by increasing the activity of the other (normal) copy of the gene that is still present in cells of people with KdVS syndrome.
Catalyst Award
Sangmi Chung, PhD / New York Medical College
For their CURE Epilepsy Catalyst project, the team will conduct key studies needed to advance this promising therapy toward clinical applications.
Catalyst Award
Shilpa Kadam, PhD / Axonis Therapeutics, Inc.
This study will generate key data showing that AXONIS’ brain-penetrating, KCC2-potentiating drug can treat refractory neonatal seizures and prevent epileptogenesis in a neonatal phenobarbital-resistant mouse model of HIE.
Catalyst Award
Suzanne Paradis, PhD / Brandeis University
The team will test the safety and efficacy of using gene therapy to deliver Sema4D as a novel therapy for drug-resistant epilepsy.
CURE Epilepsy Award
Maxime Baud, MD, PhD / University of Bern
For this project, they would like to test whether similar results could be obtained for people with genetic generalized epilepsy using a novel, minimally invasive EEG system.
Taking Flight Award
Jeffrey Calhoun, PhD / Northwestern University
This research will develop a new method to rapidly determine which (if any) genetic variants near SCN1A, an important epilepsy gene, alter SCN1A gene expression.
