Genetic switches behind common skin conditions
Official title: Regulatory Variants in Human Skin Diseases
Funded at Stanford University · NIH-11226487 · Data updated 2026-11-12
Researchers are studying how noncoding 'switches' in DNA change gene activity in skin cells and contribute to conditions like eczema, psoriasis, acne, and some skin cancers.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Stanford University NIH-funded |
| Lab location | 1 site (Stanford, United States) |
| Project start | May 1, 2020 |
| Project end | May 31, 2030 |
| Funding year | 2025 |
| Award (this year) | $629,613 |
| NIH project number | 2R01AR076965-06 |
| Project ID | NIH-11226487 on NIH RePORTER |
Who could benefit from this research
✓Could help
People with polygenic skin conditions such as atopic dermatitis, psoriasis, acne vulgaris, or relevant types of skin cancer, or those willing to donate skin samples, would be most relevant to this work.
✕Less likely to help
Individuals whose skin problems are caused entirely by non-genetic factors or by conditions unrelated to the studied pathways may not receive direct benefit.
What this research studies
This project follows up on 355 noncoding DNA variants that were found to change how genes are turned on in skin and are linked to several common skin disorders. The team will determine which genes those variants alter and which transcription factors (for example IRF6, KLF4, TP63, STAT3) bind differently because of the variants, using human skin cells, genomic assays, and laboratory models. By connecting specific DNA changes to altered gene activity in epidermal cells, the researchers aim to explain why some people develop inflammatory or growth-related skin problems. Results could point to molecular targets for new treatments or prevention approaches.
Why it matters
Potential benefit: If successful, this work could reveal precise genetic mechanisms that lead to skin disease and suggest new targets for therapies or prevention.
How similar studies have gone: Previous research has found disease-associated noncoding variants and some functional effects, but turning those findings into treatments remains an early-stage effort.
Where this research is happening
-
Stanford University
Stanford, United States Active
Researchers
- Principal investigator: Khavari, Paul — Stanford University
- Study coordinator: Khavari, Paul
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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.