Genetic and clinical screening to find early pulmonary fibrosis in relatives
Clinical Genetics and Screening for Pulmonary Fibrosis
This project uses genetic tests plus clinical and environmental information to find early signs of pulmonary fibrosis in first-degree relatives of people with idiopathic pulmonary fibrosis.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Brigham and Women's Hospital NIH-funded |
| Lab location | 1 site (Boston, United States) |
| Project ID | NIH-11239080 on NIH RePORTER |
What this research studies
If someone in your family has idiopathic pulmonary fibrosis (IPF), this project offers screening that combines your medical history, environmental exposures, genetic tests, and genomic data to look for early lung changes. The team will use imaging and clinical follow-up to identify interstitial lung abnormalities (ILA) and track who develops fibrosis over time. Researchers will build a screening algorithm that predicts risk across diverse ethnic groups and study whether lower expression of certain genes and rare gene variants are linked to faster progression. Participation may involve clinic visits, genetic counseling, imaging, and sample collection for genetic and genomic testing.
Who could benefit from this research
Good fit: Ideal candidates are adult first-degree relatives (parents, siblings, or children) of people diagnosed with idiopathic pulmonary fibrosis who are willing to have genetic testing and follow-up visits.
Not a fit: People without a family history of IPF, those with unrelated lung diseases, or those who already have advanced fibrosis are unlikely to benefit from this early-screening approach.
Why it matters
Potential benefit: If successful, the work could lead to detecting pulmonary fibrosis earlier so treatments can start sooner and slow lung decline.
How similar studies have performed: Previous work showed first-degree relatives are at high risk and that genetic testing improved risk prediction, but combining clinical, genomic, and environmental data into a practical screening algorithm is relatively new.
Where this research is happening
Boston, United States
- Brigham and Women's Hospital — Boston, United States (Active)
Researchers
- Principal investigator: Hunninghake, Gary Matthew — Brigham and Women's Hospital
- Study coordinator: Hunninghake, Gary Matthew
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.