Understanding how mutations in the XPD gene lead to genetic disorders.
Official title: The Molecular Mechanism of Genetic Disorders Due to XPD Mutations
Funded at University of New Mexico Health Scis Ctr · NIH-10997069 · Data updated 2026-11-12
This study is looking at how changes in the XPD gene, which helps fix DNA, can lead to skin problems and cancer risks in people with conditions like Xeroderma Pigmentosum and Cockayne Syndrome, and it may involve patients sharing their genetic information and how their skin reacts to sunlight.
Quick facts
| Grant type | Fellowship grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of New Mexico Health Scis Ctr NIH-funded |
| Lab location | 1 site (Albuquerque, United States) |
| Project start | August 1, 2024 |
| Project end | July 31, 2026 |
| Funding year | 2024 |
| Award (this year) | $42,574 |
| NIH project number | 1F31GM156072-01 |
| Project ID | NIH-10997069 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are individuals diagnosed with Xeroderma Pigmentosum or Cockayne Syndrome, particularly those with known XPD mutations.
✕Less likely to help
Patients without XPD mutations or those with unrelated genetic disorders may not benefit from this research.
What this research studies
This research investigates the molecular mechanisms behind genetic disorders caused by mutations in the XPD gene, which is crucial for DNA repair. It focuses on understanding how these mutations lead to different clinical outcomes, particularly in conditions like Xeroderma Pigmentosum and Cockayne Syndrome. By examining the DNA repair defects associated with XPD mutations, the research aims to provide insights into the symptoms and risks of skin cancer linked to these disorders. Patients may be involved in studies that assess their genetic profiles and responses to UV exposure.
Why it matters
Potential benefit: If successful, this research could lead to better understanding and management of genetic disorders related to XPD mutations, potentially improving patient outcomes.
How similar studies have gone: Previous research has shown promising results in understanding DNA repair mechanisms, making this approach both relevant and potentially impactful.
Where this research is happening
-
University of New Mexico Health Scis Ctr
Albuquerque, United States Active
Researchers
- Principal investigator: Hoag, Allyson Lynne — University of New Mexico Health Scis Ctr
- Study coordinator: Hoag, Allyson Lynne
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.