Gene editing to treat brittle bone disease
Official title: Precision Gene Editing on Osteogenesis Imperfecta
Funded at Univ of Massachusetts Med Sch Worcester · NIH-10951655 · Data updated 2026-11-12
This study is exploring new ways to fix the genetic issues that cause Osteogenesis Imperfecta (OI), a condition that makes bones fragile, by using a special virus to deliver gene editing tools directly to the bones in mice, which could lead to better treatments for people with OI in the future.
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 start | September 1, 2024 |
| Project end | August 31, 2026 |
| Funding year | 2024 |
| Award (this year) | $221,100 |
| NIH project number | 1R21AR084644-01 |
| Project ID | NIH-10951655 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are individuals diagnosed with Osteogenesis Imperfecta, particularly those with mutations in the COL1A1 or COL1A2 genes.
✕Less likely to help
Patients with Osteogenesis Imperfecta who do not have mutations in the COL1A1 or COL1A2 genes may not benefit from this research.
What this research studies
This research focuses on developing innovative gene editing techniques to correct genetic mutations responsible for Osteogenesis Imperfecta (OI), a condition that leads to fragile bones and frequent fractures. By utilizing a bone-targeting adeno-associated virus (rAAV), the study aims to deliver gene editing tools directly to the affected areas in mouse models. The approach seeks to overcome the limitations of current treatments that only manage symptoms rather than address the underlying genetic causes. Patients may benefit from advancements in gene therapy that could potentially lead to more effective treatments for OI.
Why it matters
Potential benefit: If successful, this research could provide a groundbreaking treatment option that directly addresses the genetic causes of Osteogenesis Imperfecta, improving bone strength and reducing fracture rates.
How similar studies have gone: While gene editing for rare diseases is a promising field, this specific approach for Osteogenesis Imperfecta has not been extensively tested, making it a novel investigation.
Where this research is happening
-
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
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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.