Investigating a genetic cause of brittle bone disease to find new treatment targets
Osteogenesis imperfecta caused by TMEM38B mutation: a deep investigation of cellular and extracellular consequences to identify new therapeutic targets
This study is looking at how changes in a specific gene can make bones more fragile in people with osteogenesis imperfecta, with the hope of finding new ways to help strengthen their bones.
Quick facts
| Grant type | R03 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | City College of New York NIH-funded |
| Lab location | 1 site (New York, United States) |
| Project ID | NIH-10889421 on NIH RePORTER |
What this research studies
This research focuses on osteogenesis imperfecta (OI), a genetic disorder that leads to fragile bones and skeletal deformities. It specifically examines mutations in the TMEM38B gene, which affects calcium flow in cells, to understand how these mutations contribute to bone fragility. By studying the cellular and extracellular mechanisms involved, the research aims to identify potential therapeutic targets that could lead to new treatments for OI. The approach includes analyzing how these mutations impact bone cell signaling and adhesion, which are crucial for maintaining bone strength.
Who could benefit from this research
Good fit: Ideal candidates for this research are individuals diagnosed with osteogenesis imperfecta, particularly those with mutations in the TMEM38B gene.
Not a fit: Patients with osteogenesis imperfecta caused by mutations other than TMEM38B may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to new therapies that improve bone strength and reduce fractures in patients with osteogenesis imperfecta.
How similar studies have performed: While research on osteogenesis imperfecta is ongoing, this specific investigation into TMEM38B mutations and their cellular effects is relatively novel.
Where this research is happening
New York, United States
- City College of New York — New York, United States (Active)
Researchers
- Principal investigator: Carriero, Alessandra — City College of New York
- Study coordinator: Carriero, Alessandra
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.