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-11179128 · Data updated 2026-11-12
This project looks at how changes in RNA splicing and gene activity lead to congenital myotonic dystrophy in infants, children, and adolescents.
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 | 2025 |
| Award (this year) | $600,108 |
| NIH project number | 5R01NS104010-08 |
| Project ID | NIH-11179128 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates are infants, children, and adolescents with congenital myotonic dystrophy (and their parents/guardians) who can provide clinical information and, in some cases, agree to muscle biopsy sampling and follow-up visits.
✕Less likely to help
People without congenital myotonic dystrophy, those unwilling or unable to provide biopsy samples or attend study visits, and individuals too medically fragile for biopsy are unlikely to benefit directly from participation.
What this research studies
From the patient's point of view, the team collects clinical information and muscle biopsy samples from babies, children, and teens with congenital myotonic dystrophy and performs RNA sequencing on those samples. They compare splicing and gene expression patterns at different ages to see why muscle symptoms improve in early childhood but worsen again in adolescence. The researchers combine these human data with laboratory experiments to pinpoint the molecular mechanisms driving those changes. Over time the work aims to link specific RNA splicing changes to the clinical course so future treatments can target the right molecules at the right developmental stage.
Why it matters
Potential benefit: If successful, the work could identify molecular targets and biomarkers that inform better timing and design of therapies for people with congenital myotonic dystrophy.
How similar studies have gone: Prior research has shown toxic RNA repeats and mis-splicing cause adult forms of myotonic dystrophy, but applying these findings to congenital forms and explaining the developmental shifts in splicing is a newer area of study.
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.