Identifying somatic mutations linked to pulmonary arterial hypertension
Official title: Identifying Pathogenic Somatic Mutations in Pulmonary Arterial Hypertension
Funded at University of Washington · NIH-11363395 · Data updated 2026-11-12
A patient-facing study exploring whether somatic mutations in lung blood vessel pathways contribute to PAH, potentially revealing new clues for diagnosis or treatment.
Quick facts
| Grant type | R03 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Washington NIH-funded |
| Lab location | 1 site (Seattle, United States) |
| Project start | July 1, 2026 |
| Project end | June 30, 2028 |
| Funding year | 2026 |
| Award (this year) | $264,750 |
| NIH project number | 1R03HL178552-01A1 |
| Project ID | NIH-11363395 on NIH RePORTER |
Who could benefit from this research
✓Could help
People diagnosed with pulmonary arterial hypertension who may have germline mutations or somatic alterations contributing to their disease.
✕Less likely to help
Patients whose PAH is not driven by somatic mutations or who do not have access to advanced cfDNA testing may see no direct benefit.
What this research studies
This grant aims to find somatic changes in blood or tissue that might drive PAH, building on clues about DNA repair in pulmonary vessels. Researchers will analyze cell-free DNA and other samples from PAH patients to detect non-heritable mutations that could influence disease development. The goal is to understand how these acquired mutations interact with known risk factors to cause PAH, which could guide future therapies. If successful, this work could lead to earlier detection of subtype risks and inform personalized treatment ideas in the future.
Why it matters
Potential benefit: If successful, it could illuminate new genetic contributors to PAH and pave the way for targeted diagnostics or therapies.
How similar studies have gone: Preliminary data suggest DNA repair and somatic mutations play a role in PAH, but direct somatic mutation involvement is not yet well established.
Where this research is happening
-
University of Washington
Seattle, United States Active
Researchers
- Principal investigator: Rayner, Samuel Gibson — University of Washington
- Study coordinator: Rayner, Samuel Gibson
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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.