Genetic causes of cleft lip and cleft palate
Genomic Risk Variants in Orofacial Clefting: Discovery and Functional Validation
Researchers are finding genetic changes that raise the chance of cleft lip and/or cleft palate by looking at DNA and testing how those changes work in the lab.
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 ID | NIH-11237083 on NIH RePORTER |
What this research studies
This project looks for rare and common genetic variants in people born with cleft lip and/or cleft palate by using whole-genome sequencing and existing genetic data. The team compares DNA from affected individuals and their families to spot suspect genes. Laboratory experiments, including CRISPR editing in cells or model systems, are used to test whether those variants change facial development. The work aims to move from a genetic finding to proof that a change actually contributes to clefting.
Who could benefit from this research
Good fit: Ideal participants are children or adults born with a cleft lip and/or cleft palate and their family members who can provide DNA samples and medical history.
Not a fit: People seeking immediate surgical repair or those whose clefts are clearly caused only by non-genetic environmental factors may not see direct benefits from this research.
Why it matters
Potential benefit: If successful, the research could improve genetic diagnosis and counseling for families and point toward ways to prevent or reduce clefting in the future.
How similar studies have performed: Previous genome-wide studies have found many risk regions for clefts, and combining whole-genome sequencing with CRISPR-based lab validation is a newer but promising strategy.
Where this research is happening
Pittsburgh, United States
- 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 below.