Understanding how R loops cause genome instability in Wiskott-Aldrich syndrome
Mechanisms of R loop-mediated genome instability in Wiskott-Aldrich syndrome
This study is looking at how certain changes in the WAS gene might mess with the balance of R loops in immune cells, which could help explain why people with Wiskott-Aldrich syndrome have immune problems, and it aims to find new ways to understand and address these issues.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Pennsylvania State Univ Hershey Med Ctr NIH-funded |
| Lab location | 1 site (Hershey, United States) |
| Project ID | NIH-10764289 on NIH RePORTER |
What this research studies
This research investigates the role of R loops, which are structures formed during DNA transcription, in causing genome instability associated with Wiskott-Aldrich syndrome (WAS). The study focuses on how mutations in the WAS gene affect the balance of R loops in T helper cells, potentially leading to immune deficiencies. By examining the mechanisms that regulate R loops and their impact on DNA stability, the research aims to uncover new insights into the underlying causes of WAS and related immunological disorders. The approach includes using a disease model to explore the nuclear functions of the WAS protein and its influence on chromatin dynamics.
Who could benefit from this research
Good fit: Ideal candidates for this research are individuals diagnosed with Wiskott-Aldrich syndrome or related primary immunodeficiency disorders.
Not a fit: Patients with unrelated genetic disorders or those not diagnosed with immunodeficiency may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to improved understanding and treatment options for patients with Wiskott-Aldrich syndrome and similar immune disorders.
How similar studies have performed: While the specific focus on R loops in Wiskott-Aldrich syndrome is novel, related research has shown success in understanding DNA damage mechanisms in other immunological disorders.
Where this research is happening
Hershey, United States
- Pennsylvania State Univ Hershey Med Ctr — Hershey, United States (Active)
Researchers
- Principal investigator: Vyas, Yatin M — Pennsylvania State Univ Hershey Med Ctr
- Study coordinator: Vyas, Yatin M
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.