Investigating genetic factors in orofacial clefts
Official title: Genomic Risk Variants in Orofacial Clefting: Discovery and Functional Validation
Funded at University of Pittsburgh at Pittsburgh · NIH-10984457 · Data updated 2026-11-12
This study is looking at the genes that might cause orofacial clefts, which are birth defects affecting the mouth and face, to help find better ways to prevent and treat these conditions for children and their families.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Pittsburgh at Pittsburgh NIH-funded |
| Lab location | 1 site (Pittsburgh, United States) |
| Project start | December 21, 2022 |
| Project end | November 30, 2027 |
| Funding year | 2025 |
| Award (this year) | $701,941 |
| NIH project number | 5R01DE032319-03 |
| Project ID | NIH-10984457 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research include newborns and young children diagnosed with orofacial clefts, as well as their family members.
✕Less likely to help
Patients without orofacial clefts or those who are older than 21 years may not benefit from this research.
What this research studies
This research focuses on understanding the genetic variants that contribute to orofacial clefts, which are common birth defects affecting the mouth and face. By utilizing advanced genomic techniques, the study aims to identify and validate rare genetic variants associated with these conditions. The research will involve analyzing DNA samples from affected individuals and their families to uncover the underlying genetic causes. This could lead to better prevention strategies and treatment options for children born with orofacial clefts.
Why it matters
Potential benefit: If successful, this research could lead to improved understanding and management of orofacial clefts, potentially reducing the number of surgeries and associated health complications for affected children.
How similar studies have gone: Previous research has successfully identified genetic factors in other birth defects, suggesting that this approach may yield valuable insights into orofacial clefts as well.
Where this research is happening
-
University of Pittsburgh at Pittsburgh
Pittsburgh, United States Active
Researchers
- Principal investigator: Marazita, Mary L. — University of Pittsburgh at Pittsburgh
- Study coordinator: Marazita, Mary L.
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.