Why some people with PAH gene changes get sick while others stay healthy
Risk and Resilience in Pulmonary Arterial Hypertension and Genetically Susceptible Individuals
The team follows people with pulmonary arterial hypertension and people who carry PAH-linked gene changes over time to find blood and tissue markers tied to getting worse or staying well.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Vanderbilt University Medical Center NIH-funded |
| Lab location | 1 site (Nashville, United States) |
| Project ID | NIH-11162290 on NIH RePORTER |
What this research studies
You would join a long-term program where doctors collect clinical data, blood and other samples, imaging, and exercise testing at multiple visits over time. The project enrolls people with diagnosed PAH and unaffected carriers of PAH-causing mutations (like BMPR2) so researchers can compare who develops disease and who remains resilient. Researchers perform dense molecular profiling at several timepoints to track which biological markers change with disease progression or protection. The work is conducted at Vanderbilt using their established PAH clinic and research infrastructure.
Who could benefit from this research
Good fit: Ideal candidates are adults with a clinical diagnosis of pulmonary arterial hypertension and people who carry known PAH-causing mutations (such as BMPR2) but do not yet have symptoms.
Not a fit: People without PAH and without known PAH-associated genetic changes, or those with other types of pulmonary hypertension unrelated to PAH, are unlikely to receive direct benefit.
Why it matters
Potential benefit: If successful, this could help predict who will develop PAH earlier and point to new treatments that change the disease course.
How similar studies have performed: Past cross-sectional molecular studies have found differences in PAH patients, but longitudinal, dense molecular profiling in both patients and unaffected mutation carriers is relatively new and disease-modifying treatments are still lacking.
Where this research is happening
Nashville, United States
- Vanderbilt University Medical Center — Nashville, United States (Active)
Researchers
- Principal investigator: Brittain, Evan L — Vanderbilt University Medical Center
- Study coordinator: Brittain, Evan L
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.