Safer AAV gene-editing delivery for brain disorders
Advanced Delivery Platforms for Base Editing In Vivo
This project builds safer, more efficient gene-editing delivery systems intended to correct disease genes that cause neurodegenerative conditions like ALS and Batten disease.
Quick facts
| Grant type | R01 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-11417852 on NIH RePORTER |
What this research studies
Researchers are improving compact CRISPR base editors that can fit into a single AAV viral package to deliver corrective edits to cells in the brain and central nervous system. They will refine enzyme targeting to expand which DNA sites can be fixed, reduce unwanted bystander edits, and lower immune and toxicity risks from viral delivery and prolonged enzyme activity. These optimized base-editing tools will be tested and validated in mouse models of CNS diseases to measure how well they correct disease-causing mutations and how safe they are. The overall goal is to create delivery platforms that could enable future one-time gene-correction therapies for people with genetic brain disorders.
Who could benefit from this research
Good fit: People with specific genetic mutations that are correctable by adenine base editing—such as certain inherited forms of ALS or Batten disease—and who meet future clinical trial criteria would be the ideal candidates.
Not a fit: Patients whose conditions are not caused by correctable point mutations, who have advanced irreversible nerve damage, or who have medical issues that preclude viral gene therapy would likely not benefit.
Why it matters
Potential benefit: If successful, this work could make one-time gene-correction treatments for some inherited or degenerative brain disorders safer and more effective.
How similar studies have performed: Early preclinical work using AAV-delivered base editors has produced promising results in animal models, but human clinical experience with these exact approaches remains limited.
Where this research is happening
Worcester, United States
- Univ of Massachusetts Med Sch Worcester — Worcester, United States (Active)
Researchers
- Principal investigator: Sontheimer, Erik J. — Univ of Massachusetts Med Sch Worcester
- Study coordinator: Sontheimer, Erik J.
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.