Understanding Muscle Changes in Duchenne Muscular Dystrophy and How Dystrophin Replacement Helps
Pathogenic Alterations of the 3D Epigenetic Landscape in Dystrophin-Deficient Skeletal Muscles and Reversal by Dystrophin Re-Expression
This project explores how the lack of dystrophin affects muscle cells in Duchenne Muscular Dystrophy and how restoring dystrophin might reverse these 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 ID | NIH-11101384 on NIH RePORTER |
What this research studies
We know that Duchenne Muscular Dystrophy (DMD) causes muscle loss because of a missing protein called dystrophin. Beyond its role in muscle structure, dystrophin also helps control how genes work inside muscle cells. This project looks closely at how the missing dystrophin changes the way our genes are organized and expressed in muscle cells. We use advanced techniques to see these changes in both patient-derived cells grown in the lab and in animal models of DMD. Our goal is to understand the full picture of DMD and how treatments that replace dystrophin truly help.
Who could benefit from this research
Good fit: This foundational research is relevant to patients diagnosed with Duchenne Muscular Dystrophy.
Not a fit: Patients without Duchenne Muscular Dystrophy would not directly benefit from this specific research.
Why it matters
Potential benefit: If successful, this work could lead to a deeper understanding of Duchenne Muscular Dystrophy and help confirm the effectiveness of new treatments aimed at restoring dystrophin.
How similar studies have performed: This project builds upon existing knowledge of dystrophin's role in muscle health and uses established genome-wide approaches to explore new aspects of DMD.
Where this research is happening
La Jolla, United States
- 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
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.