Genetics of patterned (mosaic) skin disorders
Genetics and Pathobiology of Cutaneous Mosaic Disorders
This project looks for genetic changes that cause rare patterned skin conditions to help people with mosaic birthmarks, vascular anomalies, and localized inflammatory skin disease.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Yale University NIH-funded |
| Lab location | 1 site (New Haven, United States) |
| Project ID | NIH-11049306 on NIH RePORTER |
What this research studies
You may be asked to provide clinical records, photos, and sometimes a small skin biopsy or blood sample so researchers can look for somatic (mosaic) mutations in the affected tissue. The team uses genetic sequencing, bioinformatics, and collaborations across clinics to match mutations to specific skin patterns and related medical problems. Findings that point to disease mechanisms can guide targeted therapies already used for some conditions and suggest new treatment options. The effort focuses on a range of mosaic disorders including vascular tumors, epidermal nevi, localized severe eczema or psoriasis-like lesions, and syndromes that affect bone or metabolism linked to skin changes.
Who could benefit from this research
Good fit: Ideal candidates are people with patterned or segmental skin lesions (birthmarks, epidermal nevi, unexplained vascular growths), treatment-resistant localized inflammatory skin disease, or skin lesions linked to other systemic symptoms.
Not a fit: People with common, non-patterned forms of eczema or unrelated skin problems without signs of mosaicism are unlikely to benefit from this project.
Why it matters
Potential benefit: If successful, this work could provide genetic diagnoses and lead to more precise, mechanism-based treatments for people with mosaic skin disorders.
How similar studies have performed: The team previously discovered new genes for mosaic skin disorders and developed a pathogenesis-directed therapy for porokeratosis, but many mosaic conditions still lack genetic explanations.
Where this research is happening
New Haven, United States
- Yale University — New Haven, United States (Active)
Researchers
- Principal investigator: Choate, Keith a — Yale University
- Study coordinator: Choate, Keith a
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.