Identifying genes linked to congenital heart disease
Uncovering incomplete penetrance genes in congenital heart disease by integrative analysis of Common Fund data
This study is looking at the genes that might cause congenital heart disease in kids, hoping to find out why some children with certain genes don’t develop the condition, which could help doctors create better ways to diagnose and treat affected children.
Quick facts
| Grant type | R03 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-11124441 on NIH RePORTER |
What this research studies
This research investigates the genetic factors contributing to congenital heart disease (CHD), which is the most common birth defect in children. By analyzing data from various biobanks and genetic databases, the study aims to identify genes that may be responsible for CHD and understand why some genetic variants do not always lead to the condition. The approach includes comparing genetic information from children with CHD to that of healthy individuals to pinpoint significant genetic variations. This could lead to better diagnostic tools and personalized treatment options for affected children.
Who could benefit from this research
Good fit: Ideal candidates for this research include children under 11 years old who have been diagnosed with congenital heart disease.
Not a fit: Patients with congenital heart disease who are older than 11 years or those without a genetic component to their condition may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could provide more accurate diagnoses and tailored interventions for children with congenital heart disease.
How similar studies have performed: Previous research has shown promise in identifying genetic factors in congenital heart disease, suggesting that this approach could yield valuable insights.
Where this research is happening
Columbus, United States
- Research Inst Nationwide Children's Hosp — Columbus, United States (Active)
Researchers
- Principal investigator: Koboldt, Daniel — Research Inst Nationwide Children's Hosp
- Study coordinator: Koboldt, Daniel
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.