Finding hidden genetic causes of congenital heart disease in newborns
Official title: Identifying unrecognized genetic causes of congenital heart disease
Funded at Brigham and Women's Hospital · NIH-11323997 · Data updated 2026-11-12
A study to uncover genetic reasons behind congenital heart defects in babies by examining both coding and non-coding DNA to explain cases that are currently unexplained.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Brigham and Women's Hospital NIH-funded |
| Lab location | 1 site (Boston, United States) |
| Project start | June 1, 2024 |
| Project end | March 31, 2028 |
| Funding year | 2026 |
| Award (this year) | $741,393 |
| NIH project number | 5R01HL162356-03 |
| Project ID | NIH-11323997 on NIH RePORTER |
Who could benefit from this research
✓Could help
Newborns and infants with congenital heart defects and their families who have DNA data available for analysis.
✕Less likely to help
Families without CHD or without access to genetic testing may not directly benefit.
What this research studies
The project will analyze DNA from babies with congenital heart defects to look for de novo and rare variants, including noncoding changes near heart-development genes. It will use high-throughput tests to see how these noncoding variants affect gene regulation in heart-related cells derived from induced pluripotent stem cells. When promising variants are found, researchers will edit them in their natural gene locations and use single-nucleus RNA sequencing to observe how gene activity and cell states change. The work aims to connect genetic variations to heart development outcomes, potentially leading to better diagnosis and understanding of CHD.
Why it matters
Potential benefit: If successful, this research could improve how we diagnose the genetic causes of CHD and inform personalized care for affected babies.
How similar studies have gone: Previous work has linked coding variants to CHD, and this project extends that with noncoding variants and functional assays.
Where this research is happening
-
Brigham and Women's Hospital
Boston, United States Active
Researchers
- Principal investigator: Seidman, Christine E — Brigham and Women's Hospital
- Study coordinator: Seidman, Christine E
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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.