Dystrophin-deficient muscles: mapping 3D genome changes and restoring them
Official title: Pathogenic Alterations of the 3D Epigenetic Landscape in Dystrophin-Deficient Skeletal Muscles and Reversal by Dystrophin Re-Expression
Funded at Sanford Burnham Prebys Medical Discovery Institute · NIH-11364148 · Data updated 2026-11-12
A Duchenne muscular dystrophy study tests how losing dystrophin alters the 3D genome in muscle cells and whether re-expressing dystrophin can reverse those changes.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Sanford Burnham Prebys Medical Discovery Institute NIH-funded |
| Lab location | 1 site (La Jolla, United States) |
| Project start | August 1, 2009 |
| Project end | May 31, 2027 |
| Funding year | 2026 |
| Award (this year) | $581,203 |
| NIH project number | 5R01AR056712-15 |
| Project ID | NIH-11364148 on NIH RePORTER |
Who could benefit from this research
✓Could help
Patients with Duchenne Muscular Dystrophy or their cells, and related experimental models, could benefit from findings that inform future therapies.
✕Less likely to help
If dystrophin restoration is not feasible or effective in a given context, direct benefits may be limited.
What this research studies
This project uses advanced genome tools to study how the lack of dystrophin changes the organization of DNA in muscle cells and how that affects gene activity. It analyzes patient-derived cells and a mouse model to map 3D genome structure, chromatin marks, and RNA patterns. The goal is to understand how restoring dystrophin might repair genome organization and improve muscle health in DMD. Researchers will combine promoter capture-HiC, ChIP-seq, ATAC-seq, and RNA-seq to bridge molecular changes with potential therapies.
Why it matters
Potential benefit: If successful, the work could explain how dystrophin restoration helps muscle cells regain proper genome organization and gene expression, guiding better treatments for DMD.
How similar studies have gone: Previous work shows that genome topology and gene expression change in DMD, and this project extends those findings with comprehensive 3D genome mapping.
Where this research is happening
-
Sanford Burnham Prebys Medical Discovery Institute
La Jolla, United States Active
Researchers
- Principal investigator: Puri, Pier Lorenzo — Sanford Burnham Prebys Medical Discovery Institute
- Study coordinator: Puri, Pier Lorenzo
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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.