Curation of muscular dystrophy genes to improve diagnosis and care
Official title: Curation of Muscular Dystrophy Genes
Funded at Washington University · NIH-11417940 · Data updated 2026-11-12
A grant to help doctors better interpret genetic tests for muscular dystrophy and myopathy so patients get clearer diagnoses and faster access to therapies.
Quick facts
| Grant type | NIH-funded research |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Washington University NIH-funded |
| Lab location | 1 site (Saint Louis, United States) |
| Project start | September 18, 2025 |
| Project end | August 31, 2028 |
| Funding year | 2026 |
| Award (this year) | $290,043 |
| NIH project number | 5U24AR085525-02 |
| Project ID | NIH-11417940 on NIH RePORTER |
Who could benefit from this research
✓Could help
Patients with muscular dystrophy or myopathy undergoing genetic testing or re-testing.
✕Less likely to help
Patients without access to genetic testing or those outside the targeted gene sets may not directly benefit.
What this research studies
This project uses the NIH Clinical Genome Resource framework to determine which gene-disease links are clinically meaningful for muscular dystrophies and myopathies. It will evaluate the validity of gene–disease relationships and the pathogenicity of specific gene variants to improve multi-gene testing panels. The goal is to make genetic test results more accurate and actionable for patients and clinicians, guiding eligibility for future therapies and trials. The work is designed to build over time, refining criteria and validating large-scale functional assays to support clinical decision-making.
Why it matters
Potential benefit: If successful, patients will receive more accurate genetic diagnoses and clearer pathways to therapies and clinical trials.
How similar studies have gone: Previous work shows that standardized gene–disease validity frameworks can improve diagnostic clarity for hereditary muscle diseases.
Where this research is happening
-
Washington University
Saint Louis, United States Active
Researchers
- Principal investigator: Weihl, Conrad C — Washington University
- Study coordinator: Weihl, Conrad C
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About this research
- This is an active NIH-funded research project — typically early-stage science, not a clinical trial accepting patient enrollment.
- Some NIH-funded labs run parallel clinical studies or seek volunteers for related work. To check, contact the principal investigator or institution listed above.
- For full project details, budget, and progress reports, visit the official NIH RePORTER page.