Finding genetic causes of congenital heart disease
Official title: Identifying unrecognized genetic causes of congenital heart disease
Funded at Brigham and Women's Hospital · NIH-11094004 · Data updated 2026-11-12
This study is looking at the genes of babies with congenital heart disease to find out what might be causing their heart problems, which could help doctors understand and treat this condition better in the future.
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 | 2025 |
| Award (this year) | $686,631 |
| NIH project number | 5R01HL162356-02 |
| Project ID | NIH-11094004 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are infants diagnosed with congenital heart disease, particularly those with unexplained cases.
✕Less likely to help
Patients with congenital heart disease that has a clearly identified genetic cause may not benefit from this research.
What this research studies
This research investigates the genetic factors contributing to congenital heart disease (CHD), which is the most common birth defect. By analyzing the DNA of infants with CHD, the team aims to identify rare genetic variants that may explain cases where the cause is currently unknown. The study employs advanced techniques like whole exome and genome sequencing, as well as innovative assays to assess how these genetic variants affect heart development. This research could lead to a better understanding of CHD and potentially improve diagnosis and treatment options for affected infants.
Why it matters
Potential benefit: If successful, this research could lead to earlier diagnosis and targeted therapies for congenital heart disease, improving outcomes for affected infants.
How similar studies have gone: Previous research has successfully identified genetic causes of congenital heart disease using similar genomic approaches, indicating a promising avenue for this study.
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
Related research
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Multimodal AI to improve genetic diagnosis of congenital heart disease
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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.