Investigating how genetic variations in STING affect the severity of COPA syndrome
Exploring Mechanisms Through Which STING Alleles Impact Clinical Penetrance of COPA Syndrome
This study is looking at how certain genes might affect how serious COPA syndrome can be for different people, with the hope of finding better ways to treat those who are struggling with the disease.
Quick facts
| Grant type | Fellowship grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of California, San Francisco NIH-funded |
| Lab location | 1 site (San Francisco, United States) |
| Project ID | NIH-11164463 on NIH RePORTER |
What this research studies
This research explores the genetic factors that influence the severity of COPA syndrome, a rare autoimmune disease that can lead to serious lung issues. By examining specific genetic variations in the STING gene, the study aims to understand why some individuals with the disease experience severe symptoms while others remain unaffected. The approach involves analyzing the genetic makeup of patients to identify potential modifiers that could impact disease progression and treatment responses. This could lead to more personalized treatment strategies for those affected by COPA syndrome.
Who could benefit from this research
Good fit: Ideal candidates for this research are individuals diagnosed with COPA syndrome or those who are carriers of the associated genetic mutations.
Not a fit: Patients without a diagnosis of COPA syndrome or those not carrying relevant genetic variations may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to improved understanding and management of COPA syndrome, potentially enhancing treatment outcomes for patients.
How similar studies have performed: Previous research has shown promise in understanding genetic modifiers in other autoimmune diseases, suggesting potential for success in this area as well.
Where this research is happening
San Francisco, United States
- University of California, San Francisco — San Francisco, United States (Active)
Researchers
- Principal investigator: Simchoni, Noa — University of California, San Francisco
- Study coordinator: Simchoni, Noa
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.