Improving gene discovery for a common birth defect affecting newborns.
Leveraging whole genome sequencing and functional genomic characterization to improve NSCLP gene discovery
['FUNDING_R01'] · UNIVERSITY OF PITTSBURGH AT PITTSBURGH · NIH-11066675
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
| Phase | ['FUNDING_R01'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | UNIVERSITY OF PITTSBURGH AT PITTSBURGH (nih funded) |
| Locations | 1 site (PITTSBURGH, UNITED STATES) |
| Trial ID | NIH-11066675 on ClinicalTrials.gov |
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.
Who could benefit from this research
Good fit: 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.
Not a fit: 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.
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 performed: 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
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.