Understanding how a specific protein affects craniofacial development
Official title: Molecular mechanism of CCDC32 in Cardiofacioneurodevelopmental syndrome
Funded at Univ of North Carolina Chapel Hill · NIH-10999030 · Data updated 2026-11-12
This study is looking at how a protein called CCDC32 might be linked to common birth defects that affect the face and skull, with the hope that understanding its role could help improve diagnosis and treatment for patients with these conditions.
Quick facts
| Grant type | Fellowship grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Univ of North Carolina Chapel Hill NIH-funded |
| Lab location | 1 site (Chapel Hill, United States) |
| Project start | September 1, 2024 |
| Project end | August 31, 2027 |
| Funding year | 2024 |
| Award (this year) | $37,346 |
| NIH project number | 1F31DE034311-01 |
| Project ID | NIH-10999030 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are individuals diagnosed with craniofacial malformations, particularly those linked to mutations in the CCDC32 gene.
✕Less likely to help
Patients without craniofacial malformations or those not linked to genetic factors affecting CCDC32 may not benefit from this research.
What this research studies
This research investigates the role of the CCDC32 protein in craniofacial malformations, which are the most common type of birth defects. By examining how mutations in the CCDC32 gene affect cellular processes like endocytosis and ciliogenesis, the study aims to uncover the molecular mechanisms behind these defects. The research involves laboratory experiments to analyze the interactions of CCDC32 with other proteins and its impact on cellular functions. Patients with craniofacial syndromes may benefit from insights gained through this research, potentially leading to improved diagnostic and therapeutic strategies.
Why it matters
Potential benefit: If successful, this research could lead to better understanding and treatment options for patients with craniofacial malformations.
How similar studies have gone: Previous research has shown success in understanding genetic factors contributing to craniofacial defects, suggesting that this approach may yield valuable insights.
Where this research is happening
-
Univ of North Carolina Chapel Hill
Chapel Hill, United States Active
Researchers
- Principal investigator: Sloan, Dillon — Univ of North Carolina Chapel Hill
- Study coordinator: Sloan, Dillon
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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.