Finding genetic causes of cleft lip and palate using whole genome data
Leveraging whole genome sequencing and functional genomic characterization to improve NSCLP gene discovery
Using whole genome sequencing and lab tests to find genetic changes that raise the risk of nonsyndromic cleft lip and palate in 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 ID | NIH-11322004 on NIH RePORTER |
What this research studies
This project looks at detailed health information and whole genome sequences from large multigenerational families affected by nonsyndromic cleft lip and palate (NSCLP). Researchers will search for rare, high-risk DNA changes and common genetic patterns that run in families and then use lab-based functional tests to see which changes alter biological signals involved in facial development. The team builds on existing high-quality genomes from 172 well-characterized families of Hispanic and non-Hispanic white ancestry. Results aim to make it clearer which genetic differences actually cause or contribute to clefting and why family members can have different severities.
Who could benefit from this research
Good fit: Ideal participants are children and family members from multigenerational families affected by nonsyndromic cleft lip and/or palate who can provide health information and DNA samples.
Not a fit: People with clefting that is part of a known genetic syndrome or unrelated health conditions are less likely to benefit directly from this specific genetic-discovery project.
Why it matters
Potential benefit: If successful, this work could improve genetic counseling, risk prediction, and eventually guide development of targeted prevention or treatments for cleft lip and palate.
How similar studies have performed: Previous genetic studies have found some common and rare risk variants for NSCLP, but many causal changes remain unknown, so this approach builds on promising but incomplete prior findings.
Where this research is happening
Pittsburgh, United States
- University of Pittsburgh at Pittsburgh — Pittsburgh, United States (Active)
Researchers
- Principal investigator: Letra, Ariadne M — University of Pittsburgh at Pittsburgh
- Study coordinator: Letra, Ariadne M
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.