Why myotonic dystrophy symptoms and timing differ between people
Biological determinants of myotonic dystrophy variability
Researchers will look at repeat lengths and other biological signs in adults with myotonic dystrophy to help explain why symptoms and age of onset vary.
Quick facts
| Grant type | NIH-funded research |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Florida NIH-funded |
| Lab location | 1 site (Gainesville, United States) |
| Project ID | NIH-11161633 on NIH RePORTER |
What this research studies
You would take part through remote study visits where we collect medical information and biological samples like blood and possibly small muscle samples. The team will measure the length and behavior of the expanded repeats in different tissues and track how they change with age. Lab studies will examine how the mutated RNA and its binding proteins form nuclear condensates that may drive symptoms. The project combines new clinical tools, remote visits, and laboratory analyses to link molecular findings with how people actually feel and function.
Who could benefit from this research
Good fit: Adults with a confirmed genetic diagnosis of myotonic dystrophy (DM1 or DM2) who can participate in remote visits and provide blood and, if requested, muscle samples are ideal candidates.
Not a fit: Children under 18, people without a confirmed DM diagnosis, or those seeking immediate therapeutic benefit rather than research participation are unlikely to gain direct benefit from this grant.
Why it matters
Potential benefit: If successful, this work could improve predictions about disease course and help tailor monitoring or future treatments for people with myotonic dystrophy.
How similar studies have performed: Previous studies have partly linked repeat length to symptoms but results are mixed, so this project builds on past work using newer measurement tools and remote assessments.
Where this research is happening
Gainesville, United States
- University of Florida — Gainesville, United States (Active)
Researchers
- Principal investigator: Hamel, Johanna — University of Florida
- Study coordinator: Hamel, Johanna
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 below.