Gene repair for brittle bone disease (osteogenesis imperfecta)
Precision Gene Editing on Osteogenesis Imperfecta
This project aims to use bone-targeted gene editing delivered by AAV to fix collagen gene mutations that cause osteogenesis imperfecta.
Quick facts
| Grant type | R21 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-11173718 on NIH RePORTER |
What this research studies
I have brittle bones (osteogenesis imperfecta) and this work is developing a gene-editing therapy intended to correct the faulty collagen genes that weaken bone. Researchers will engineer bone-targeting recombinant AAV vectors to carry CRISPR-based gene repair tools and will test those tools in mouse models of OI. They will measure whether treated animals make healthier collagen, develop stronger bones, and have fewer fractures while also checking for immune or other safety concerns. The project is focused on preclinical development to support possible future human treatments.
Who could benefit from this research
Good fit: People with osteogenesis imperfecta caused by dominant COL1A1 or COL1A2 mutations would be the most likely candidates for this type of therapy in the future.
Not a fit: Patients whose bone fragility is due to non-collagen genetic causes, environmental factors, or unrelated bone conditions may not benefit from this collagen-directed approach.
Why it matters
Potential benefit: If successful, this approach could correct the underlying collagen defect and lead to stronger bones with fewer fractures for people with OI.
How similar studies have performed: AAV-delivered CRISPR approaches have shown promise in some genetic disease models, but direct gene editing for OI is largely novel and remains at the preclinical stage.
Where this research is happening
Worcester, United States
- Univ of Massachusetts Med Sch Worcester — Worcester, United States (Active)
Researchers
- Principal investigator: Sato, Tadatoshi — Univ of Massachusetts Med Sch Worcester
- Study coordinator: Sato, Tadatoshi
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.