Understanding Genetic Skin Conditions
Genetics and Pathobiology of Disorders of Keratinization
This research aims to find new genetic causes and better treatments for severe, rare skin conditions that affect the skin's protective barrier.
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-11071969 on NIH RePORTER |
What this research studies
Disorders of keratinization are serious genetic skin conditions where the skin's protective layer doesn't work properly, leading to issues like blistering, infections, and significant water loss. These conditions can be life-threatening in early life and cause ongoing health problems. Researchers are working to identify the specific genes responsible for these disorders, as many cases still lack a genetic explanation. By expanding a group of families affected by these conditions and using advanced genetic sequencing, the goal is to uncover new genetic causes and develop targeted treatments.
Who could benefit from this research
Good fit: Patients with severe, rare genetic skin disorders of keratinization, especially those without a known genetic cause, would be ideal candidates.
Not a fit: Patients whose skin conditions are not genetic or are already well-understood might not directly benefit from this specific genetic discovery effort.
Why it matters
Potential benefit: If successful, this work could lead to new diagnoses and more effective, targeted treatments for individuals living with severe genetic skin disorders.
How similar studies have performed: Previous work by this team and others has successfully identified several genes for these disorders and even a new potential therapy for one condition.
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.