Understanding genetic factors in congenital heart disease
In vivo Characterization of Regulatory Variant Pathogenicity in Congenital Heart Disease
This study is looking at the genes that might cause congenital heart disease (CHD) by examining DNA from CHD patients and their parents, especially focusing on parts of the DNA that don’t code for proteins but still affect how genes work, to help find answers for families who haven't gotten clear results from regular genetic tests.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Calif-Lawrenc Berkeley Lab NIH-funded |
| Lab location | 1 site (Berkeley, United States) |
| Project ID | NIH-11031348 on NIH RePORTER |
What this research studies
This research investigates the genetic variants that contribute to congenital heart disease (CHD), particularly focusing on non-coding sequence variants that affect gene expression during heart development. By utilizing whole genome sequencing on large cohorts of CHD patients and their parents, the study aims to identify genetic changes that may not be detected through standard genetic testing. The goal is to uncover the underlying causes of CHD in patients who have previously received inconclusive results from genetic testing. This could lead to a better understanding of how these genetic factors influence heart development and disease risk.
Who could benefit from this research
Good fit: Ideal candidates for this research are children under 11 years old who have been diagnosed with congenital heart disease and have not had conclusive genetic testing results.
Not a fit: Patients with congenital heart disease who have already identified genetic causes through standard testing may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to improved diagnostic methods and targeted therapies for children with congenital heart disease.
How similar studies have performed: Previous research has shown promise in identifying genetic variants associated with congenital heart disease, suggesting that this approach could yield valuable insights.
Where this research is happening
Berkeley, United States
- University of Calif-Lawrenc Berkeley Lab — Berkeley, United States (Active)
Researchers
- Principal investigator: Visel, Axel — University of Calif-Lawrenc Berkeley Lab
- Study coordinator: Visel, Axel
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.