Cellular and molecular mechanisms behind a genetic form of osteopetrosis linked to CCDC120
Official title: Cellular and molecular mechanisms of CCDC120-associated osteopetrosis
Funded at Southern California Inst for Res/educ · NIH-11291772 · Data updated 2026-11-12
Aiming to understand how a specific gene variant causes a rare, inherited bone disease so future therapies can be developed for affected patients.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Southern California Inst for Res/educ NIH-funded |
| Lab location | 1 site (Long Beach, UNITED STATES) |
| Project start | June 19, 2026 |
| Project end | March 31, 2031 |
| Funding year | 2026 |
| Award (this year) | $337,072 |
| NIH project number | 1R01AR085586-01A1 |
| Project ID | NIH-11291772 on NIH RePORTER |
Who could benefit from this research
✓Could help
Patients with Albers-Schoenberg disease or related osteopetrosis caused by CCDC120 anomalies may benefit from future targeted therapies.
✕Less likely to help
Patients without CCDC120-related osteopetrosis or without access to these specific research findings may not directly benefit.
What this research studies
This project looks at how the CCDC120 gene variant leads to abnormal bone resorption and osteopetrosis. Researchers will study the cellular and molecular steps that drive the disease, using model systems and patient-derived data to map where the pathway goes wrong. The goal is to uncover targets that could be used to develop treatments that prevent bone damage and improve health for people with this condition.
Why it matters
Potential benefit: If successful, the work could reveal new targets for therapies to prevent brittle bones and fractures in patients with CCDC120-associated osteopetrosis.
How similar studies have gone: Related studies have linked CCDC120 to osteopetrosis, but the exact mechanisms are still being explored, making this an important but exploratory step.
Where this research is happening
-
Southern California Inst for Res/educ
Long Beach, United States Active
Researchers
- Principal investigator: Zhao, Haibo — Southern California Inst for Res/educ
- Study coordinator: Zhao, Haibo
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.