Our Research Priorities & Opportunities
Our strategic research priorities were developed in collaboration with key stakeholders and external authorities in research and drug design. The resulting roadmap is a multifaceted approach to addressing key priorities for discovering and developing therapeutics for individuals with NARS1 Disorder
NARS1 Disorder Research Progress
Our multiyear roadmap helps us to outline and prioritize the necessary steps needed to advance us towards a cure.
NARS1 Disorder Research Priorities
Develop a NARS1 loss of function mouse model and conduct phenotyping that includes measurement of asparagine levels and assessment of the neuronal phenotype
Develop iPSC-derived neurons and assess function and rescuable target
Identify N-of-a few trial collaborators and establish a desired "minimum data set" of historical data that can serve as a control for future clinical studies
Investigate potential biomarkers, including asparagine
Validate and expand on drug repurposing data for approaches to treating loss-of-function and toxic gain-of- function variants, including stop codon read-through strategies
Grant applications are currently closed.
Please check back in July 2025 to apply for our next cycle of grant funding!
Advance the Cure Grant Program
The Rory Belle Foundation is proud to offer our Advance the Cure Grant Program, designed to accelerate research and drive the development of therapeutic treatments for NARS1 disorder. This program focuses on supporting early-stage investigators whose innovative research can serve as a springboard for larger grants from government, industry, and other funding sources—including continued support from The Rory Belle Foundation. The program is awarded annually in December, with applications opening in July.
We are interested funding research that advances the understanding of the cellular, molecular, genetic, and systems-level mechanisms of NARS1 disease. Our priority would be to initially focus creating a reproducible biomarkers and assays for testing the future development of treatment options.
2024 Advance the Cure Grant Recipients
“Small molecule therapeutics for NARS1 disease”
“Development of an iPSC-based disease model for early-onset epileptic NARS1 disorder”
“Studying the dominant toxic heterodimer formed between wild-type and R534* mutant asparaginyl-tRNA synthetase in vitro”
Biorepository Samples Available for Research
We partner with COMBINEDBrain to maintain a robust biorepository of active and control samples from our community and gladly partner with researchers interested in accessing these samples!
NARS1 Patient Registry Data
We partner with RARE-X to collect patient data and make it available to researchers on a de-identified, patient-level basis, structured to support quantitative research. The RARE-X Data Analytics Platform is a global, secure, cloud-based platform where this data is shared to enable researchers to collaborate and access data.
Click here for a RARE-X Platform overview for researchers
Want to use NARS1 patient data in your research? Click here to learn how to get started!
Check out our 2024 Research Updates!
This video is from a family meeting we held virtually in 2024 to share updates with our community worldwide!