Understanding the causes of craniometaphyseal dysplasia (CMD) to guide better treatments
Official title: Pathogenic Mechanisms of Craniometaphyseal Dysplasia
Funded at University of Connecticut Sch of Med/dnt · NIH-11372077 · Data updated 2026-11-12
This project studies why CMD, a rare bone disorder, happens at the cellular and molecular level with the goal of improving therapies for affected individuals.
Quick facts
| Grant type | R01 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 | July 1, 2022 |
| Project end | June 30, 2027 |
| Funding year | 2026 |
| Award (this year) | $498,194 |
| NIH project number | 5R01DE025664-10 |
| Project ID | NIH-11372077 on NIH RePORTER |
Who could benefit from this research
✓Could help
CMD patients or individuals with CMD mutations who could contribute cells or tissue samples or participate in future translational studies.
✕Less likely to help
People without CMD or without CMD-related mutations are unlikely to benefit directly from this project.
What this research studies
Researchers use mouse models and patient-derived stem cells to explore how CMD mutations disrupt bone growth and shape. They focus on the ANKH and Cx43 genes, how mutant proteins affect the cytoskeleton and bone cells, and how these changes lead to the painful, life-impacting features of CMD. The work combines mechanistic lab studies with translational steps toward therapies, including modeling disease in human-derived cells. The project is designed to translate discoveries into strategies that could reduce surgeries and improve quality of life for CMD patients.
Why it matters
Potential benefit: If successful, the work could lead to targeted therapies that lessen bone overgrowth and complications, potentially reducing medical surgeries for CMD patients.
How similar studies have gone: Previous work has established CMD models and identified key genes, with ongoing progress toward translating findings into therapies.
Where this research is happening
-
University of Connecticut Sch of Med/dnt
Farmington, United States Active
Researchers
- Principal investigator: Chen, I-Ping — University of Connecticut Sch of Med/dnt
- Study coordinator: Chen, I-Ping
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.