Improving gene discovery for a common birth defect affecting newborns.
Official title: Leveraging whole genome sequencing and functional genomic characterization to improve NSCLP gene discovery
Funded at University of Pittsburgh at Pittsburgh · NIH-11066675 · Data updated 2026-11-12
This study is looking into the genes that might cause nonsyndromic cleft lip and/or palate, a common birth defect, to help find better ways to prevent and treat it for families affected by this condition.
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 | May 1, 2025 |
| Project end | February 28, 2030 |
| Funding year | 2025 |
| Award (this year) | $645,034 |
| NIH project number | 1R01DE033908-01A1 |
| Project ID | NIH-11066675 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for participation include families with a history of nonsyndromic cleft lip and/or palate, particularly those from Hispanic and non-Hispanic white ethnic backgrounds.
✕Less likely to help
Patients with cleft lip and/or palate due to syndromic causes or those without a family history of the condition may not benefit from this research.
What this research studies
This research investigates the genetic factors contributing to nonsyndromic cleft lip and/or palate (NSCLP), a prevalent birth defect impacting approximately 135,000 newborns each year. By utilizing whole genome sequencing and detailed phenotypic data from multigenerational families, the study aims to uncover rare genetic variants that may interact with common variants to influence the risk of NSCLP. The approach focuses on understanding the complex genetic and environmental interactions that contribute to this condition, which has been challenging to decipher due to the incomplete understanding of genetic liability. Patients may benefit from insights that could lead to improved prevention and treatment strategies for NSCLP.
Why it matters
Potential benefit: If successful, this research could lead to better understanding and management of NSCLP, potentially reducing its incidence and improving outcomes for affected newborns.
How similar studies have gone: Previous research has shown promise in identifying genetic factors related to NSCLP, but this approach aims to delve deeper into the complex interactions of rare and common variants, making it a novel investigation.
Where this research is happening
-
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
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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.