Creating a new tool to correct a genetic defect causing alpha-1 antitrypsin deficiency.
Developing a novel adenine base editor tool for in vivo alpha-1 antitrypsin deficiency gene correction.
This study is testing a new way to fix the genetic problem that causes alpha-1 antitrypsin deficiency by using a special tool to edit the gene in your liver, which could lead to better and safer treatments for people with this condition.
Quick facts
| Grant type | Fellowship grant |
|---|---|
| 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-10996880 on NIH RePORTER |
What this research studies
This research focuses on developing a novel adenine base editor tool to correct the genetic mutations responsible for alpha-1 antitrypsin deficiency (AATD). By utilizing a CRISPR-based approach, the study aims to precisely edit the SERPINA1 gene, which is crucial for producing the alpha-1 antitrypsin protein. The methodology involves using a viral delivery system to introduce the editing tool into the liver, where it can effectively correct the mutation and restore normal protein levels. This innovative technique seeks to overcome limitations of traditional gene editing methods, potentially offering a more efficient and safer treatment option for patients with AATD.
Who could benefit from this research
Good fit: Ideal candidates for this research are individuals diagnosed with alpha-1 antitrypsin deficiency, particularly those with the PI*Z allele mutation.
Not a fit: Patients who do not have alpha-1 antitrypsin deficiency or those with other genetic mutations unrelated to the SERPINA1 gene may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could provide a groundbreaking treatment for alpha-1 antitrypsin deficiency, potentially reducing the need for lifelong infusions of purified protein.
How similar studies have performed: Other research has shown promising results using CRISPR-based approaches for gene correction, indicating that this method has the potential for success in treating genetic disorders.
Where this research is happening
Worcester, United States
- Univ of Massachusetts Med Sch Worcester — Worcester, United States (Active)
Researchers
- Principal investigator: Gao, Jenny — Univ of Massachusetts Med Sch Worcester
- Study coordinator: Gao, Jenny
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.