Understanding how the DNASE1L3 DNASE1L3 R206C variant drives systemic sclerosis
Official title: Pathogenic effects of the DNASE1L3 R206C variant in systemic sclerosis
Funded at University of Texas Hlth Sci Ctr Houston · NIH-11384423 · Data updated 2026-11-12
A study to figure out how a DNASE1L3 genetic change might cause systemic sclerosis and what that means for patients.
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 start | August 10, 2022 |
| Project end | July 31, 2027 |
| Funding year | 2026 |
| Award (this year) | $164,160 |
| NIH project number | 5K08AR081402-05 |
| Project ID | NIH-11384423 on NIH RePORTER |
Who could benefit from this research
✓Could help
People with systemic sclerosis or those carrying the DNASE1L3 R206C variant may be eligible to contribute samples or participate in related studies.
✕Less likely to help
Participants without systemic sclerosis or without the DNASE1L3 R206C variant may not directly benefit from this study.
What this research studies
This project looks at how the DNASE1L3 R206C variant may contribute to the development of systemic sclerosis by examining circulating DNA, immune cell functions, and related molecular pathways. It will analyze two DNA types found in patients and develop a blood test to measure DNASE1L3 levels. The research will use advanced sequencing and immune cell assays in human samples and mouse models to uncover mechanisms that could be targeted in future therapies.
Why it matters
Potential benefit: If successful, the work could reveal new targets for treating or preventing organ damage in systemic sclerosis.
How similar studies have gone: Prior work suggests DNASE1L3-related pathways are involved in autoimmunity, but this study explores a specific human genetic variant and its role in systemic sclerosis.
Where this research is happening
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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
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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.