Developing mouse models to study a rare skin disease called pachyonychia congenita
Official title: Creating transgenic mouse models that genetically and phenotypically recapitulate pachyonychia congenita
Funded at University of Michigan at Ann Arbor · NIH-10981371 · Data updated 2026-11-12
This study is creating special mice that have the same skin and nail issues as people with pachyonychia congenita, so researchers can learn more about the condition and find better treatments for those who live with it.
Quick facts
| Grant type | R21 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Michigan at Ann Arbor NIH-funded |
| Lab location | 1 site (Ann Arbor, United States) |
| Project start | August 1, 2024 |
| Project end | June 30, 2026 |
| Funding year | 2024 |
| Award (this year) | $198,426 |
| NIH project number | 1R21AR083484-01A1 |
| Project ID | NIH-10981371 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are individuals diagnosed with pachyonychia congenita or those who exhibit symptoms related to this condition.
✕Less likely to help
Patients with other unrelated skin disorders or those who do not have symptoms of pachyonychia congenita may not benefit from this research.
What this research studies
This research focuses on pachyonychia congenita (PC), a rare skin disorder characterized by painful skin lesions and nail abnormalities. The team aims to create transgenic mouse models that mimic the genetic and physical traits of PC, which will help researchers better understand the disease's mechanisms. By studying these models, the research seeks to identify potential therapies and improve clinical management for patients suffering from PC and related skin conditions. The approach involves manipulating specific keratin genes that are known to be involved in the disease.
Why it matters
Potential benefit: If successful, this research could lead to new treatments and improved quality of life for patients with pachyonychia congenita.
How similar studies have gone: Previous research has shown success in using transgenic mouse models to study other genetic skin disorders, indicating a promising approach for this study.
Where this research is happening
-
University of Michigan at Ann Arbor
Ann Arbor, United States Active
Researchers
- Principal investigator: Coulombe, Pierre — University of Michigan at Ann Arbor
- Study coordinator: Coulombe, Pierre
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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.