Calling Dup15q Researchers, we are excited to be part of the CURE Epilepsy Partnership Grant.
CURE Epilepsy funds research that has the potential to truly transform and save lives. CURE Epilepsy recently launched its new Rare Epilepsy Partnership Award!
The purpose of this funding opportunity is to stimulate and accelerate discovery on rare epilepsies through the development of necessary research tools, techniques, model systems, and data collection platforms. Applications that are strictly focused on basic research including but not limited to gene discovery, understanding cellular pathways, and mechanisms, basic electrophysiology etc., without a research tool-building component will
be given lower priority. This award is not intended to fund research focusing solely on a comorbid
condition associated with a rare epilepsy without also seeking to develop tools to understand the causes
and treatments for the accompanying seizures.
Each award will be co-funded by CURE Epilepsy and one or more of the rare epilepsy advocacy groups
(partners). Applications must clearly identify the rare epilepsy(ies) that the research is directed towards.
We encourage applications from groups identified as nationally underrepresented in the biomedical,
clinical, behavioral, and social sciences. These groups include individuals with disabilities, veterans,
persons from underrepresented racial and ethnic groups and gender diverse groups, women in
biomedical-related disciplines or any other characteristic protected by federal, state, or local law are
encouraged to apply. U.S. citizenship is not required. Researchers outside the U.S. are also encouraged to apply.
Dup15q Alliance empowers individuals living with dup15q syndrome and other related rare diseases to reach their full potential by advancing breakthrough research and life-changing therapeutic treatments, supporting families affected by dup15q, and promoting advocacy.
Specific Dup15q research priorities include:
a. Development of tools to test the hypothesis that normalization of Ubiquitin protein ligase E3A (UBE3A) overexpression via antisense oligonucleotides (ASOs) is a plausible therapeutic strategy
for treating Dup15q epilepsies.
b. Using a Drosophila Dup15q model to test a small molecule library of FDA-approved compounds to
rapidly identify potential therapeutics for off-label trials.
c. Novel techniques to investigate whether genes other than UBE3A, for example, GABRB3, GABRA5,
and GABRG3, HERC2, or ATP10A, within the 15q11-q13 region can contribute to the seizure
phenotypes seen in Dup15q syndrome.