Understanding how certain genes affect skull bone development
Dissecting the role of Six1 and its co-factors during calvarial bone and suture development
This study is looking at how a specific gene called SIX1 affects the growth of skull bones, especially for people with Branchio-oto-renal syndrome, which can cause hearing loss and kidney problems, to help find better ways to diagnose and treat related issues like craniosynostosis.
Quick facts
| Grant type | Career grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Delaware NIH-funded |
| Lab location | 1 site (Newark, UNITED STATES) |
| Project ID | NIH-10895415 on NIH RePORTER |
What this research studies
This research investigates the role of the SIX1 gene and its co-factors in the development of skull bones, particularly in relation to conditions like Branchio-oto-renal syndrome (BOR) that can lead to hearing loss and kidney issues. The study will analyze changes in skull shape and bone formation using advanced imaging techniques and tissue analysis. By examining how these genetic factors influence bone development, the research aims to uncover potential links to craniosynostosis, a condition that can cause serious complications if untreated. Patients may benefit from insights that could lead to better diagnosis and treatment options for related conditions.
Who could benefit from this research
Good fit: Ideal candidates for this research include individuals with Branchio-oto-renal syndrome or craniosynostosis, particularly those under 21 years old.
Not a fit: Patients without genetic variants in the SIX1 gene or those not affected by craniosynostosis or BOR may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could improve understanding and treatment of craniosynostosis and related genetic conditions.
How similar studies have performed: Previous research has shown promising results in understanding genetic factors related to craniosynostosis, suggesting that this approach could yield valuable insights.
Where this research is happening
Newark, UNITED STATES
- University of Delaware — Newark, United States (Active)
Researchers
- Principal investigator: Tavares, Andre L P — University of Delaware
- Study coordinator: Tavares, Andre L P
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.