Identifying RNA Splicing and Gene Expression Changes in congenital myotonic dystrophy
Official title: Identifying the RNA Splicing and Gene Expression Changes that Cause Congenital Myotonic Dystrophy (Renewal)
Funded at Virginia Commonwealth University · NIH-11393159 · Data updated 2026-11-12
This grant looks at how RNA changes contribute to congenital myotonic dystrophy to understand why symptoms change as children grow.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Virginia Commonwealth University NIH-funded |
| Lab location | 1 site (Richmond, United States) |
| Project start | April 1, 2018 |
| Project end | July 31, 2029 |
| Funding year | 2026 |
| Award (this year) | $580,348 |
| NIH project number | 5R01NS104010-09 |
| Project ID | NIH-11393159 on NIH RePORTER |
Who could benefit from this research
✓Could help
Children and adults with congenital myotonic dystrophy or related RNA-splicing–related symptoms who have muscle biopsy samples or consent for clinical data and tissue use.
✕Less likely to help
People without congenital myotonic dystrophy or without access to relevant samples or data may not benefit.
What this research studies
Researchers study how RNA splicing and gene expression shift during development in people with congenital myotonic dystrophy, using patient muscle tissue samples and sequencing data. The project builds on previous findings that RNA mis-splicing tracks with the disease’s triphasic motor pattern from infancy to adolescence. By analyzing ages—from infants to young adults—scientists hope to map when and why these RNA changes occur. The long-term goal is to identify targets that could lead to therapies that stabilize RNA processing and relieve symptoms over time.
Why it matters
Potential benefit: If successful, the work could reveal RNA targets for potential therapies to improve muscle function and quality of life for people with CDM.
How similar studies have gone: Prior studies linked RNA mis-splicing to CDM symptoms and showed developmental patterns, supporting this approach as promising but still exploratory.
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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This grant explores why myotonic dystrophy can look very different from person to person by studying its genetic changes and how they affect muscle in adults.
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.