A mutation in the NOTCH2 gene causes brittle bones in children.
Official title: A NOTCH2 Mutation Causes Osteogenesis Imperfecta
Funded at University of Connecticut Sch of Med/dnt · NIH-10818325 · Data updated 2026-11-12
This study is looking at how a change in a specific gene can cause brittle bones, and by using mice that have this gene change, researchers hope to learn more about how to help kids with this condition have stronger bones.
Quick facts
| Grant type | R21 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Connecticut Sch of Med/dnt NIH-funded |
| Lab location | 1 site (Farmington, United States) |
| Project start | April 1, 2023 |
| Project end | February 28, 2026 |
| Funding year | 2024 |
| Award (this year) | $212,973 |
| NIH project number | 5R21AR080642-02 |
| Project ID | NIH-10818325 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are children, particularly those diagnosed with osteogenesis imperfecta or exhibiting symptoms of skeletal fragility.
✕Less likely to help
Patients with osteogenesis imperfecta caused by mutations in genes other than NOTCH2 may not benefit from this research.
What this research studies
This research investigates how a specific mutation in the NOTCH2 gene leads to osteogenesis imperfecta, a condition characterized by fragile bones. By studying a mouse model that mimics this genetic mutation, researchers aim to understand the underlying mechanisms that cause skeletal fragility. The project focuses on characterizing the skeletal phenotype and the affected cell lineages in these mutant mice, which could provide insights into potential treatments for affected children. The findings may help identify new therapeutic targets for improving bone health in patients with this genetic disorder.
Why it matters
Potential benefit: If successful, this research could lead to better understanding and treatment options for children suffering from osteogenesis imperfecta.
How similar studies have gone: While the specific mutation in NOTCH2 is novel, similar research on Notch signaling and bone health has shown promising results in understanding skeletal disorders.
Where this research is happening
-
University of Connecticut Sch of Med/dnt
Farmington, United States Active
Researchers
- Principal investigator: Canalis, Ernesto — University of Connecticut Sch of Med/dnt
- Study coordinator: Canalis, Ernesto
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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.