A mutation in the NOTCH2 gene causes brittle bones in children.
A NOTCH2 Mutation Causes Osteogenesis Imperfecta
['FUNDING_R21'] · UNIVERSITY OF CONNECTICUT SCH OF MED/DNT · NIH-10818325
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
| Phase | ['FUNDING_R21'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | UNIVERSITY OF CONNECTICUT SCH OF MED/DNT (nih funded) |
| Locations | 1 site (FARMINGTON, UNITED STATES) |
| Trial ID | NIH-10818325 on ClinicalTrials.gov |
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.
Who could benefit from this research
Good fit: Ideal candidates for this research are children, particularly those diagnosed with osteogenesis imperfecta or exhibiting symptoms of skeletal fragility.
Not a fit: Patients with osteogenesis imperfecta caused by mutations in genes other than NOTCH2 may not benefit from this research.
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 performed: 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
FARMINGTON, UNITED STATES
- 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
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.