Regulatory DNA variants linked to skin diseases
Official title: Regulatory Variants in Human Skin Diseases
Funded at Stanford University · NIH-11392532 · Data updated 2026-11-12
A study at Stanford is exploring how inherited DNA differences in skin cells influence common skin conditions like psoriasis, acne, eczema, and skin cancer.
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 | 2026 |
| Award (this year) | $598,120 |
| NIH project number | 5R01AR076965-07 |
| Project ID | NIH-11392532 on NIH RePORTER |
Who could benefit from this research
✓Could help
Individuals with common polygenic skin diseases like psoriasis, atopic dermatitis, acne, or skin cancer could benefit from improved diagnostics or targeted therapies in the future.
✕Less likely to help
Participants directly in this basic science study may not experience therapeutic benefits during the research.
What this research studies
This project looks at how noncoding DNA variants change the way skin genes are turned on or off, which may affect inflammation and skin health. Researchers will map these regulatory variants to the genes and transcription factors they influence, especially those critical for epidermal function. The work aims to connect genetic risk to actual gene activity in the skin, considering environmental interactions. If successful, findings could explain why some people develop these conditions and point to new targets for treatment. The project builds on earlier findings that many risk variants cluster in promoters and enhancers of key epidermal genes.
Why it matters
Potential benefit: Better understanding of how genetics shapes skin disease could lead to new, more precise therapies.
How similar studies have gone: Previous work has linked regulatory DNA variants to skin disease risk and identified key transcription factors, supporting a plausible path to impactful discoveries.
Where this research is happening
-
Stanford University
Stanford, United States Active
Researchers
- Principal investigator: Khavari, Paul — Stanford University
- Study coordinator: Khavari, Paul
Related research
Other NIH-funded projects on the same topics.
-
Wearable optical biomarkers to diagnose and manage inflammatory skin diseases
This grant supports a clinician-scientist to develop wearable optical sensors and AI tools that help diagnose and manage inflammatory skin conditions like allergic contact dermatitis.
-
AI-powered skin disease diagnosis with multi-sensor data
A patient-friendly AI tool that uses thermography and other data to help doctors quickly and accurately diagnose skin conditions, aiming to reach people in underserved communities.
-
Genetic switches behind common skin conditions
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.
-
A digital toolkit to improve diagnosis and treatment of skin diseases in children in low-resource settings.
The MIND-the-SKIN Project is creating a helpful app called 'eSkinHealth' to support local healthcare workers in diagnosing and treating skin diseases in children in sub-Saharan Africa, making it easier for them to provide care for conditions like Buruli ulcers and leprosy.
-
Monitoring environmental factors affecting skin diseases using non-invasive methods
This study is looking at how things in our environment affect skin conditions like psoriasis and atopic dermatitis, and it’s designed for patients who want to better understand their skin health by tracking changes in real-time from home.
-
Monitoring environmental exposures for skin diseases using digital health tools.
This study is looking at how different things in our environment affect skin conditions like eczema, using easy home tests and digital devices, so people can participate from anywhere without needing to visit a doctor in person.
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.