Gene clues that help DM1 muscle disease age and treatment answers
Official title: Genome Wide Association Study
Funded at Virginia Commonwealth University · NIH-11423684 · Data updated 2026-11-12
A large NIH grant will study how DNA repair and RNA splicing genes influence when DM1 symptoms start and how patients respond to treatments.
Quick facts
| Grant type | NIH-funded research |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Virginia Commonwealth University NIH-funded |
| Lab location | 1 site (Richmond, United States) |
| Project start | September 25, 2025 |
| Project end | August 31, 2030 |
| Funding year | 2026 |
| Award (this year) | $402,907 |
| NIH project number | 5P50AR085906-02 |
| Project ID | NIH-11423684 on NIH RePORTER |
Who could benefit from this research
✓Could help
People with DM1 who have known CTG repeat expansions and available genetic and clinical data from prior studies.
✕Less likely to help
Patients not matching DM1 criteria or without access to the relevant genetic data may not benefit.
What this research studies
This project focuses on myotonic dystrophy type 1 (DM1), a muscular disease with heart and cognitive effects, and looks at how genetic differences in DNA repair and RNA splicing may change when symptoms begin and how well therapies work. Researchers will use genetic data from multiple long-term studies to understand why two people with similar CTG repeats can have different disease courses. The team will examine variants in DNA repair pathways and RNA splicing proteins to see if they help explain variability beyond repeat length. The work involves analyzing human participant data and existing patient samples to find markers that predict onset and treatment response.
Why it matters
Potential benefit: If successful, patients could receive more personalized forecasts of disease progression and more tailored treatment options.
How similar studies have gone: Previous studies have suggested genetic modifiers influence DM1 severity and therapy response, supporting this approach.
Where this research is happening
-
Virginia Commonwealth University
Richmond, United States Active
Researchers
- Principal investigator: Johnson, Nicholas Elwood — Virginia Commonwealth University
- Study coordinator: Johnson, Nicholas Elwood
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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.