Understanding Craniometaphyseal Dysplasia
Pathogenic Mechanisms of Craniometaphyseal Dysplasia
This project aims to understand how craniometaphyseal dysplasia develops to find better ways to help patients with this rare bone condition.
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 ID | NIH-11115805 on NIH RePORTER |
What this research studies
Craniometaphyseal dysplasia (CMD) is a rare bone disorder that causes bones in the face and skull to grow abnormally, along with changes in long bones. This can lead to severe symptoms like headaches, vision and hearing loss, and facial paralysis, sometimes requiring complex surgeries. Our work uses advanced tools, including special mouse models and human cells grown in the lab, to understand how specific gene changes cause these bone problems. By studying how these genetic changes affect bone cells, we hope to uncover the root causes of CMD and identify new ways to treat it.
Who could benefit from this research
Good fit: This research is relevant for individuals diagnosed with craniometaphyseal dysplasia, particularly those with mutations in the ANKH or connexin 43 genes.
Not a fit: This foundational laboratory research is not a direct treatment and may not offer immediate benefits to patients.
Why it matters
Potential benefit: If successful, this work could lead to new treatments or better ways to manage the severe symptoms of craniometaphyseal dysplasia.
How similar studies have performed: This is a renewal of ongoing work, building on previous discoveries about the genetic and cellular changes involved in craniometaphyseal dysplasia.
Where this research is happening
Farmington, United States
- 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 below.