Exploring how genetic mutations affect adult inflammatory diseases
Understanding the Role of Somatic Mutations in Adult Inflammatory Diseases
This study is looking at how certain genetic changes might cause adult inflammatory diseases, and it's for people with unexplained inflammatory conditions who want to help find better treatments by sharing their genetic information.
Quick facts
| Grant type | NIH-funded research |
|---|---|
| Study type | NIH-funded research |
| Funding institution | New York University School of Medicine NIH-funded |
| Lab location | 1 site (New York, United States) |
| Project ID | NIH-10755653 on NIH RePORTER |
What this research studies
This research investigates the role of somatic mutations in adult inflammatory diseases, focusing on understanding the molecular mechanisms that contribute to these conditions. By analyzing genetic data from patients with undiagnosed inflammatory disorders, the study aims to identify specific mutations that may lead to better-targeted treatments. The approach includes a genotype-first analysis to uncover mutations in the ubiquitin pathway, particularly in the UBA1 gene, which has been linked to severe disease manifestations. Patients participating in this research may undergo genetic testing and contribute to a deeper understanding of their conditions.
Who could benefit from this research
Good fit: Ideal candidates for this research are adults with undiagnosed inflammatory disorders who have not responded well to standard treatments.
Not a fit: Patients with well-controlled inflammatory diseases or those who do not have somatic mutations related to the conditions being studied may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to more effective treatments for patients suffering from inflammatory rheumatologic diseases.
How similar studies have performed: Previous research has shown success in identifying genetic mutations related to inflammatory diseases, suggesting that this approach may yield valuable insights.
Where this research is happening
New York, United States
- New York University School of Medicine — New York, United States (Active)
Researchers
- Principal investigator: Beck, David — New York University School of Medicine
- Study coordinator: Beck, David
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.