Understanding the causes of skull deformities in a specific bone disorder
Mechanisms of Craniosynostosis in Bent Bone Dysplasia Syndrome
This study is looking at how certain gene changes related to a condition called Bent Bone Dysplasia Syndrome can affect skull growth in babies with craniosynostosis, and it hopes to find new ways to help those who are impacted.
Quick facts
| Grant type | Fellowship grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Southern California NIH-funded |
| Lab location | 1 site (Los Angeles, UNITED STATES) |
| Project ID | NIH-10873725 on NIH RePORTER |
What this research studies
This research investigates craniosynostosis, a condition where skull sutures fuse too early, leading to birth defects. It focuses on genetic mutations in the FGFR2 gene that are linked to Bent Bone Dysplasia Syndrome (BBDS). Using a specially developed mouse model, the researchers aim to connect these genetic changes to the symptoms of BBDS, particularly how they affect bone formation and skull structure. By studying these mechanisms, the research seeks to provide insights into potential treatments or interventions for affected individuals.
Who could benefit from this research
Good fit: Ideal candidates for this research are individuals diagnosed with craniosynostosis or Bent Bone Dysplasia Syndrome, particularly those with FGFR2 mutations.
Not a fit: Patients without craniosynostosis or those whose conditions are unrelated to FGFR2 mutations may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to improved understanding and treatment options for patients with craniosynostosis and related bone dysplasias.
How similar studies have performed: Previous research has shown success in understanding genetic causes of craniosynostosis, but this specific approach using a novel mouse model is relatively new.
Where this research is happening
Los Angeles, UNITED STATES
- University of Southern California — Los Angeles, United States (Active)
Researchers
- Principal investigator: Nickle, Audrey — University of Southern California
- Study coordinator: Nickle, Audrey
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.