Understanding the effects of a gene loss in skin cells to find treatments for Hailey-Hailey disease
Official title: Delineating pathogenic effects of ATP2C1 loss-of-function in human keratinocytes and organotypic epidermis to identify therapeutic strategies for Hailey-Hailey disease
Funded at University of Washington · NIH-10949846 · Data updated 2026-11-12
This study is looking at how a missing gene affects skin cells in people with Hailey-Hailey disease, which causes painful skin problems, to help find new ways to treat the condition.
Quick facts
| Grant type | R03 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Washington NIH-funded |
| Lab location | 1 site (Seattle, United States) |
| Project start | July 1, 2024 |
| Project end | June 30, 2025 |
| Funding year | 2024 |
| Award (this year) | $176,500 |
| NIH project number | 1R03TR005428-01A1 |
| Project ID | NIH-10949846 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are individuals diagnosed with Hailey-Hailey disease or those with a family history of the condition.
✕Less likely to help
Patients with skin conditions unrelated to genetic factors or those not diagnosed with Hailey-Hailey disease may not benefit from this research.
What this research studies
This research investigates how the loss of the ATP2C1 gene affects skin cells, specifically keratinocytes, which are crucial for maintaining skin integrity. By using advanced techniques like CRISPR/Cas9, the researchers will create models that mimic Hailey-Hailey disease, a genetic skin disorder characterized by painful skin erosions. The goal is to better understand the disease's mechanisms and identify potential drug targets that could lead to effective treatments. Patients may benefit from insights gained that could inform future therapeutic strategies.
Why it matters
Potential benefit: If successful, this research could lead to the development of new therapies for Hailey-Hailey disease, improving the quality of life for affected patients.
How similar studies have gone: While there have been advancements in treating other inflammatory skin diseases, this specific approach to understanding Hailey-Hailey disease is relatively novel and has not been extensively tested.
Where this research is happening
-
University of Washington
Seattle, United States Active
Researchers
- Principal investigator: Simpson, Cory L — University of Washington
- Study coordinator: Simpson, Cory L
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.