Developing mouse models to study a rare skin disease called pachyonychia congenita
Creating transgenic mouse models that genetically and phenotypically recapitulate pachyonychia congenita
['FUNDING_R21'] · UNIVERSITY OF MICHIGAN AT ANN ARBOR · NIH-10981371
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
| Phase | ['FUNDING_R21'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | UNIVERSITY OF MICHIGAN AT ANN ARBOR (nih funded) |
| Locations | 1 site (ANN ARBOR, UNITED STATES) |
| Trial ID | NIH-10981371 on ClinicalTrials.gov |
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.
Who could benefit from this research
Good fit: Ideal candidates for this research are individuals diagnosed with pachyonychia congenita or those who exhibit symptoms related to this condition.
Not a fit: Patients with other unrelated skin disorders or those who do not have symptoms of pachyonychia congenita may not benefit from this research.
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 performed: 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
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.