Investigating how a genetic mutation affects eye muscles in craniosynostosis
Official title: Role of a craniosynostosis associated fibroblast growth factor receptor mutation in extraocular muscles
Funded at University of California, San Diego · NIH-11105771 · Data updated 2026-11-12
This study is looking at how a specific gene change affects the eye muscles in people with Apert syndrome, a type of craniosynostosis, to help understand why some may have eye misalignment, with hopes of finding better treatments for those affected.
Quick facts
| Grant type | Career grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of California, San Diego NIH-funded |
| Lab location | 1 site (La Jolla, United States) |
| Project start | June 1, 2023 |
| Project end | May 31, 2028 |
| Funding year | 2025 |
| Award (this year) | $268,802 |
| NIH project number | 5K08EY034930-03 |
| Project ID | NIH-11105771 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are individuals diagnosed with craniosynostosis syndromes, particularly those with Apert syndrome and associated strabismus.
✕Less likely to help
Patients without craniosynostosis syndromes or those whose strabismus is not related to genetic mutations in FGFR2 may not benefit from this research.
What this research studies
This research focuses on understanding the role of a specific genetic mutation in the fibroblast growth factor receptor (FGFR2) and its impact on eye muscles in patients with craniosynostosis syndromes, particularly Apert syndrome. The study aims to explore how this mutation leads to structural and functional abnormalities in extraocular muscles, which can result in eye misalignment (strabismus). Using a mouse model, researchers will analyze muscle anatomy and function through advanced imaging techniques and histological studies. The goal is to uncover the underlying mechanisms that contribute to these eye muscle issues, which could lead to better treatment options for affected patients.
Why it matters
Potential benefit: If successful, this research could lead to improved treatment strategies for strabismus in patients with craniosynostosis syndromes, potentially reducing the rates of surgical failure and associated vision loss.
How similar studies have gone: Previous research has shown promising results in understanding muscle abnormalities in similar conditions, indicating that this approach may yield valuable insights.
Where this research is happening
-
University of California, San Diego
La Jolla, United States Active
Researchers
- Principal investigator: Rudell, Jolene — University of California, San Diego
- Study coordinator: Rudell, Jolene
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.