Investigating ways to improve the function of a key protein involved in heart and skin diseases
Official title: Exploration of Novel Strategies to Preserve Desmoplakin Variant Function
Funded at James Madison University · NIH-10576702 · Data updated 2026-11-12
This study is looking at a protein called desmoplakin that helps keep cells in your heart and skin strong and connected, and it's trying to find ways to fix problems caused by certain gene changes that can lead to heart and skin diseases, so that patients can have better treatment options.
Quick facts
| Grant type | R15 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | James Madison University NIH-funded |
| Lab location | 1 site (Harrisonburg, United States) |
| Project start | September 20, 2022 |
| Project end | August 31, 2025 |
| Funding year | 2022 |
| Award (this year) | $440,076 |
| NIH project number | 1R15GM148890-01 |
| Project ID | NIH-10576702 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research include individuals diagnosed with Arrhythmogenic Cardiomyopathy, Skin Fragility Wooly Hair Syndrome, or related conditions linked to desmoplakin variants.
✕Less likely to help
Patients without genetic variants affecting desmoplakin or those with unrelated heart or skin conditions may not benefit from this research.
What this research studies
This research focuses on desmoplakin, a crucial protein that helps cells stick together in tissues that experience mechanical stress, such as the heart and skin. The project aims to understand how certain genetic variants of desmoplakin lead to diseases like Arrhythmogenic Cardiomyopathy and Skin Fragility Wooly Hair Syndrome. By exploring novel strategies to prevent the breakdown of this protein, the researchers hope to restore its function and improve tissue stability. Patients may benefit from new therapeutic approaches that target these genetic variants and enhance protein resilience.
Why it matters
Potential benefit: If successful, this research could lead to new treatments that improve heart and skin health for patients with specific genetic conditions.
How similar studies have gone: Previous research has successfully identified mechanisms of pathogenicity in similar conditions, suggesting that this approach may yield promising results.
Where this research is happening
-
James Madison University
Harrisonburg, United States Active
Researchers
- Principal investigator: Wright, Nathan Thompson — James Madison University
- Study coordinator: Wright, Nathan Thompson
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.