Investigating the role of desmosomal proteins in heart and skin diseases
Official title: Administrative Supplement to Purchase CLARIOstar Plus Platereader
Funded at James Madison University · NIH-10788703 · Data updated 2026-11-12
This study is looking at how certain genetic changes in a protein called desmoplakin can cause heart and skin problems, and it aims to find ways to fix these issues to help people who have these conditions.
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 | 2023 |
| Award (this year) | $62,588 |
| NIH project number | 3R15GM148890-01S1 |
| Project ID | NIH-10788703 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 Dilated Cardiomyopathy with Wooly Hair and Keratoderma.
✕Less likely to help
Patients without genetic variants in desmosomal proteins or those with unrelated heart or skin conditions may not benefit from this research.
What this research studies
This research focuses on understanding how specific genetic variants in desmosomal proteins, particularly desmoplakin, contribute to diseases like Arrhythmogenic Cardiomyopathy and related skin conditions. The researchers aim to explore the molecular mechanisms that lead to weakened tissue stability due to these variants. By utilizing advanced techniques, they will assess how these proteins interact under mechanical stress and how certain mutations can be targeted to restore their function. This work could lead to new therapeutic strategies for patients affected by these conditions.
Why it matters
Potential benefit: If successful, this research could lead to improved treatments for patients with heart and skin diseases linked to desmosomal protein mutations.
How similar studies have gone: Previous research has shown promising results in understanding the mechanisms of desmosomal protein mutations, indicating potential for success in this area.
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.