Investigating new ways to maintain the function of a key protein in heart and skin diseases
Exploration of Novel Strategies to Preserve Desmoplakin Variant Function
This study is looking at a protein called desmoplakin, which is important for keeping cells together, and it's for people with heart and skin conditions linked to problems with this protein; the researchers want to find ways to fix or protect it so that it works better and helps improve health.
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 ID | NIH-11034862 on NIH RePORTER |
What this research studies
This research focuses on desmoplakin, a crucial protein in cell adhesion that is linked to several diseases, including Arrhythmogenic Cardiomyopathy and rare skin disorders. The team aims to understand how certain genetic variants of desmoplakin lead to its dysfunction and contribute to disease. They will explore innovative strategies to prevent the breakdown of this protein, potentially using secondary mutations or antibodies to stabilize its function. By addressing the underlying mechanisms of these conditions, the research seeks to improve tissue stability and patient outcomes.
Who could benefit from this research
Good fit: Ideal candidates for this research include individuals diagnosed with Arrhythmogenic Cardiomyopathy, Skin Fragility Wooly Hair Syndrome, or Dilated Cardiomyopathy with Wooly Hair and Keratoderma.
Not a fit: Patients without genetic variants affecting desmoplakin or those with unrelated heart or skin conditions may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to new treatments that enhance the stability and function of desmoplakin, improving health outcomes for patients with related diseases.
How similar studies have performed: Previous research has successfully identified mechanisms of desmoplakin dysfunction, suggesting that this approach may yield promising results.
Where this research is happening
Harrisonburg, United States
- 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 below.