Correcting the gene for alpha-1 antitrypsin deficiency
Editing of the AAT locus using novel base editing and prime editing technologies
This work develops new gene editing methods to fix the genetic cause of alpha-1 antitrypsin deficiency, a condition that can harm the liver and lungs.
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-11146482 on NIH RePORTER |
What this research studies
Alpha-1 antitrypsin deficiency (AATD) happens when a specific gene mutation causes a faulty protein to build up in the liver and reduces a protective protein in the lungs. This can lead to liver disease and lung damage like emphysema. Our goal is to create advanced gene editing tools that can directly correct this genetic mistake in cells. We are focusing on two new techniques, called prime editing and adenine base editing, which are designed to be more precise and safer than older methods. These new approaches aim to fix the gene without causing unwanted changes to the DNA.
Who could benefit from this research
Good fit: Ideal candidates for future applications of this research would be adults diagnosed with alpha-1 antitrypsin deficiency, particularly those with the PI*Z mutation.
Not a fit: Patients without alpha-1 antitrypsin deficiency or those with other genetic conditions would not directly benefit from this specific gene correction approach.
Why it matters
Potential benefit: If successful, this research could lead to a long-lasting treatment that corrects the underlying genetic problem for patients with alpha-1 antitrypsin deficiency, potentially preventing or reversing liver and lung damage.
How similar studies have performed: While previous gene editing methods have shown partial success in animal models, this work develops novel, more precise strategies to overcome limitations of earlier techniques.
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.