Identifying genetic variants linked to COPD using advanced deep learning techniques
Official title: COPD GWAS Functional Variant Identification in Airway Epithelial Cells using Deep Learning Splicing Models
Funded at Brigham and Women's Hospital · NIH-11144504 · Data updated 2026-11-12
This study is looking at how certain genes might affect chronic obstructive pulmonary disease (COPD) by examining cells in the lungs, and it hopes to find new ways to improve treatments for people living with this condition.
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 | 2025 |
| Award (this year) | $762,750 |
| NIH project number | 5R01HL171213-02 |
| Project ID | NIH-11144504 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are individuals diagnosed with chronic obstructive pulmonary disease (COPD), particularly those with a history of cigarette smoke exposure.
✕Less likely to help
Patients without COPD or those who do not have a history of cigarette smoke exposure may not benefit from this research.
What this research studies
This research focuses on chronic obstructive pulmonary disease (COPD) and aims to identify genetic variants that contribute to the disease by analyzing airway epithelial cells. Using advanced deep learning models, the study will explore how alternative splicing of RNA affects gene expression in response to cigarette smoke exposure. By generating detailed maps of genetic variations and their functional implications, the research seeks to uncover new targets for potential treatments. Patients may benefit from insights that could lead to more effective therapies for COPD.
Why it matters
Potential benefit: If successful, this research could lead to the development of new, disease-modifying treatments for COPD.
How similar studies have gone: Previous research has shown success in identifying genetic variants linked to other diseases using similar genomic and deep learning approaches, indicating a promising avenue for COPD as well.
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.