Understanding Pachyonychia Congenita
Creating transgenic mouse models that genetically and phenotypically recapitulate pachyonychia congenita
This research aims to create new laboratory models to better understand Pachyonychia Congenita, a rare and painful skin condition.
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 ID | NIH-11158824 on NIH RePORTER |
What this research studies
Pachyonychia Congenita (PC) is a rare skin disease causing severe nail problems, mouth sores, and very painful skin on the palms and soles. It's caused by changes in specific genes that affect skin proteins. Currently, there aren't good laboratory models that accurately show the genetic and physical features of PC, which makes it hard to develop new treatments. This project will develop new mouse models that closely mimic PC, helping scientists learn more about the disease and how it progresses.
Who could benefit from this research
Good fit: This foundational research is for patients living with Pachyonychia Congenita, as it seeks to improve the understanding and future treatment options for their condition.
Not a fit: Patients without Pachyonychia Congenita would not directly benefit from this specific research on mouse models.
Why it matters
Potential benefit: If successful, these new models will provide a crucial tool for scientists to test potential new therapies and gain a deeper understanding of Pachyonychia Congenita.
How similar studies have performed: The project addresses a critical gap, as current genetically-relevant mouse models for Pachyonychia Congenita are lacking.
Where this research is happening
Ann Arbor, United States
- 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
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.