COPD genes and splicing: finding COPD-related splicing changes in airway cells with deep learning
Official title: COPD GWAS Functional Variant Identification in Airway Epithelial Cells using Deep Learning Splicing Models
Funded at Brigham and Women's Hospital · NIH-11333047 · Data updated 2026-11-12
Scientists are studying how genetic differences affect COPD by looking at how gene splicing changes in airway cells when exposed to cigarette smoke, using advanced computer models.
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 start | August 1, 2024 |
| Project end | May 31, 2028 |
| Funding year | 2026 |
| Award (this year) | $746,705 |
| NIH project number | 5R01HL171213-03 |
| Project ID | NIH-11333047 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates are adults with COPD or at risk due to smoking exposure, and who may participate in related future studies involving airway cells or genetic analyses.
✕Less likely to help
Patients without COPD or smoking-related risk may not directly benefit from this basic translational research.
What this research studies
This grant aims to map how alternative RNA splicing in airway cells relates to COPD and cigarette smoke exposure, using a large collection of primary airway cells and genome-wide data. The team will create splicing maps (sQTLs) in well-differentiated airway cells after cigarette smoke or clean air exposure, guided by heavy computational analysis. By linking splicing changes to COPD risk loci, they hope to identify new, actionable targets for therapy. The work blends genetics, cell biology, and deep learning to translate human genetic findings into potential treatments.
Why it matters
Potential benefit: If successful, results could reveal new splicing-related targets for COPD therapies and improve understanding of how cigarette smoke drives disease at the molecular level.
How similar studies have gone: prior work has connected splicing QTLs to disease genes; this project builds on that by focusing on COPD-specific splicing in airway cells.
Where this research is happening
-
Brigham and Women's Hospital
Boston, United States Active
Researchers
- Principal investigator: Castaldi, Peter — Brigham and Women's Hospital
- Study coordinator: Castaldi, Peter
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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.