Identifying genetic causes of craniofacial birth defects
Forward genetic analysis of congenital craniofacial malformations
This study is looking into the genetic causes of birth defects that affect the face and skull, hoping to find new ways to help diagnose and treat these conditions for families who are impacted.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Research Inst Nationwide Children's Hosp NIH-funded |
| Lab location | 1 site (Columbus, United States) |
| Project ID | NIH-10649480 on NIH RePORTER |
What this research studies
This research investigates the genetic factors contributing to congenital craniofacial malformations, which are common birth defects affecting over 1 in 700 live births. By analyzing family pedigrees and conducting genomic sequencing, the study aims to uncover novel genetic variants associated with these conditions. Additionally, it includes complementary animal model studies to better understand the mechanisms behind these malformations. The ultimate goal is to enhance diagnosis, treatment, and patient care for affected individuals.
Who could benefit from this research
Good fit: Ideal candidates for this research include individuals with congenital craniofacial malformations or those with a family history of such conditions.
Not a fit: Patients without craniofacial anomalies or those not related to affected individuals may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to improved understanding and management of craniofacial malformations, benefiting patients through better diagnosis and treatment options.
How similar studies have performed: Previous research has shown success in identifying genetic causes of other congenital conditions, suggesting a promising potential for this approach.
Where this research is happening
Columbus, United States
- Research Inst Nationwide Children's Hosp — Columbus, United States (Active)
Researchers
- Principal investigator: Stottmann, Rolf W — Research Inst Nationwide Children's Hosp
- Study coordinator: Stottmann, Rolf W
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.