Investigating the effects of alpha-1 antitrypsin deficiency on lung cells
Gain-of-function toxicity in alpha-1 antitrypsin deficient type 2 alveolar epithelial cells
This study is looking at how a specific gene mutation affects lung cells in people with alpha-1 antitrypsin deficiency, which can lead to emphysema, to help find new ways to treat the condition.
Quick facts
| Grant type | Fellowship grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Boston University Medical Campus NIH-funded |
| Lab location | 1 site (Boston, United States) |
| Project ID | NIH-11074017 on NIH RePORTER |
What this research studies
This research focuses on alpha-1 antitrypsin deficiency (AATD), a genetic condition that can lead to emphysema. It examines how a specific mutation in the SERPINA1 gene affects type 2 alveolar epithelial cells in the lungs. The study aims to understand the cellular responses and potential damage caused by the accumulation of abnormal alpha-1 antitrypsin proteins in these cells. By analyzing lung tissue from patients, the research seeks to uncover the mechanisms behind the disease and identify new therapeutic targets.
Who could benefit from this research
Good fit: Ideal candidates for this research are individuals diagnosed with alpha-1 antitrypsin deficiency, particularly those experiencing lung-related symptoms.
Not a fit: Patients without alpha-1 antitrypsin deficiency or those with unrelated lung conditions may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to improved treatments for patients with alpha-1 antitrypsin deficiency and related lung diseases.
How similar studies have performed: Previous research has shown promising results in understanding the cellular mechanisms of alpha-1 antitrypsin deficiency, indicating that this approach has potential for success.
Where this research is happening
Boston, United States
- Boston University Medical Campus — Boston, United States (Active)
Researchers
- Principal investigator: Merritt, Carly — Boston University Medical Campus
- Study coordinator: Merritt, Carly
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.