Investigating a genetic variant's role in systemic sclerosis
Pathogenic effects of the DNASE1L3 R206C variant in systemic sclerosis
This study is looking at how a specific gene change might affect people with systemic sclerosis, a serious autoimmune disease, by examining the DNA in their blood to better understand their immune system and help find better treatments.
Quick facts
| Grant type | Career grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Texas Hlth Sci Ctr Houston NIH-funded |
| Lab location | 1 site (Houston, United States) |
| Project ID | NIH-10895962 on NIH RePORTER |
What this research studies
This research focuses on understanding how a specific genetic variant in the DNASE1L3 gene contributes to systemic sclerosis (SSc), a severe autoimmune disease. The study will analyze the profiles of circulating DNA in patients with the DNASE1L3 R206C variant, particularly looking at DNA associated with cell death and immune responses. Advanced techniques like next-generation sequencing and functional assays will be used to explore immune cell behavior and the potential impact of this genetic variant on disease progression. By uncovering these mechanisms, the research aims to pave the way for more effective treatments for SSc.
Who could benefit from this research
Good fit: Ideal candidates for this research are individuals diagnosed with systemic sclerosis, particularly those with the DNASE1L3 R206C genetic variant.
Not a fit: Patients without systemic sclerosis or those who do not carry the DNASE1L3 R206C variant 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 systemic sclerosis.
How similar studies have performed: While the specific investigation of the DNASE1L3 R206C variant is novel, similar genetic studies in autoimmune diseases have shown promising results in understanding disease mechanisms.
Where this research is happening
Houston, United States
- University of Texas Hlth Sci Ctr Houston — Houston, United States (Active)
Researchers
- Principal investigator: Skaug, Brian — University of Texas Hlth Sci Ctr Houston
- Study coordinator: Skaug, Brian
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.