Understanding genetic factors affecting bone health in Osteogenesis Imperfecta
Official title: Genetic determinants of endoplasmic reticulum stress in OI and its consequences on cellular receptors
Funded at University of California Los Angeles · NIH-11065440 · Data updated 2026-11-12
This study is looking into how certain gene changes might cause problems in bone strength for people with Osteogenesis Imperfecta (OI), which could help find better treatments and give patients a clearer understanding of their condition.
Quick facts
| Grant type | Fellowship grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of California Los Angeles NIH-funded |
| Lab location | 1 site (Los Angeles, United States) |
| Project start | March 15, 2024 |
| Project end | March 14, 2027 |
| Funding year | 2025 |
| Award (this year) | $54,538 |
| NIH project number | 5F30HD113414-02 |
| Project ID | NIH-11065440 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 known genetic mutations affecting collagen.
✕Less likely to help
Patients with Osteogenesis Imperfecta who do not have identifiable genetic mutations or those with forms of the condition not related to the genes being studied may not benefit from this research.
What this research studies
This research investigates the genetic causes of endoplasmic reticulum stress in Osteogenesis Imperfecta (OI), a condition that leads to fragile bones and frequent fractures. By examining mutations in various genes, particularly those related to collagen production, the study aims to uncover how these genetic factors influence bone density and strength. The research will utilize advanced genetic analysis and biological assays to explore potential alternative treatments that could improve patient outcomes. Patients with OI may benefit from insights gained regarding their specific genetic mutations and how these affect their condition.
Why it matters
Potential benefit: If successful, this research could lead to new treatment options that enhance bone strength and reduce fracture risk for patients with Osteogenesis Imperfecta.
How similar studies have gone: Previous research has shown promise in understanding genetic factors in bone diseases, suggesting that this approach could yield valuable insights and potential breakthroughs.
Where this research is happening
-
University of California Los Angeles
Los Angeles, United States Active
Researchers
- Principal investigator: Kot, Alexander — University of California Los Angeles
- Study coordinator: Kot, Alexander
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.