Understanding genetic factors in a common skull birth defect
Official title: Genomic regulation in ERF-related craniosynostosis
Funded at Boston University Medical Campus · NIH-10987499 · Data updated 2026-11-12
This study is looking into craniosynostosis, a condition where a baby's skull bones fuse too soon, and it's trying to understand how certain genetic changes, especially in the ERF gene, might cause this problem, using zebrafish to learn more about how these changes affect skull growth, which could help find better ways to prevent and treat the condition.
Quick facts
| Grant type | R21 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Boston University Medical Campus NIH-funded |
| Lab location | 1 site (Boston, United States) |
| Project start | September 10, 2024 |
| Project end | August 31, 2026 |
| Funding year | 2024 |
| Award (this year) | $453,750 |
| NIH project number | 1R21DE033802-01A1 |
| Project ID | NIH-10987499 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are children diagnosed with craniosynostosis, particularly those with a known genetic mutation in the ERF gene.
✕Less likely to help
Patients with craniosynostosis not linked to genetic mutations or those with other unrelated craniofacial abnormalities may not benefit from this research.
What this research studies
This research investigates craniosynostosis, a condition where skull bones fuse too early, potentially leading to developmental issues. The team is exploring the genetic mutations, particularly in the ERF gene, that contribute to this condition. Using zebrafish models, they aim to uncover how reduced levels of the ERF protein affect skull development and lead to craniosynostosis. By identifying the mechanisms involved, the research hopes to provide insights into prevention and treatment options for affected individuals.
Why it matters
Potential benefit: If successful, this research could lead to better understanding and management of craniosynostosis, potentially improving outcomes for affected children.
How similar studies have gone: Previous research has shown success in using genetic models to study craniofacial defects, indicating that this approach has potential for meaningful discoveries.
Where this research is happening
-
Boston University Medical Campus
Boston, United States Active
Researchers
- Principal investigator: Fisher, Shannon — Boston University Medical Campus
- Study coordinator: Fisher, Shannon
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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.