Editing a gene to treat alpha-1 antitrypsin deficiency
Editing of the AAT locus using novel base editing and prime editing technologies
This study is exploring new gene editing methods to fix the genetic problem that causes alpha-1 antitrypsin deficiency, which can lead to serious liver and lung issues, with the hope of providing a safe and lasting treatment for those affected.
Quick facts
| Grant type | P01 program project |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Univ of Massachusetts Med Sch Worcester NIH-funded |
| Lab location | 1 site (Worcester, United States) |
| Project ID | NIH-10914223 on NIH RePORTER |
What this research studies
This research focuses on using advanced gene editing techniques to correct mutations in the AAT gene, which causes alpha-1 antitrypsin deficiency (AATD). AATD leads to serious health issues, including liver disease and progressive lung conditions. The study employs innovative methods like prime editing and adenine base editing, which aim to provide a safer and more effective way to repair genetic defects without causing harmful breaks in DNA. By targeting the underlying genetic cause of AATD, this research seeks to offer long-term therapeutic benefits for affected patients.
Who could benefit from this research
Good fit: Ideal candidates for this research are adults aged 21 and older who have been diagnosed with alpha-1 antitrypsin deficiency.
Not a fit: Patients with other genetic disorders or those under 21 years old may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to a groundbreaking treatment that corrects the genetic cause of AAT deficiency, potentially improving lung and liver health for patients.
How similar studies have performed: Similar gene editing approaches have shown promise in other studies, indicating potential for success in this novel application.
Where this research is happening
Worcester, United States
- Univ of Massachusetts Med Sch Worcester — Worcester, United States (Active)
Researchers
- Principal investigator: Xue, Wen — Univ of Massachusetts Med Sch Worcester
- Study coordinator: Xue, Wen
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.