Understanding genetic causes of congenital heart defects
Congenital Heart Disease Expert Curation Panel
['FUNDING_OTHER'] · BOSTON CHILDREN'S HOSPITAL · NIH-10894322
This study is looking at the genes linked to congenital heart defects in newborns to help doctors better understand and test for these heart issues, making it easier to spot any related health problems early on.
Quick facts
| Phase | ['FUNDING_OTHER'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | BOSTON CHILDREN'S HOSPITAL (nih funded) |
| Locations | 1 site (BOSTON, UNITED STATES) |
| Trial ID | NIH-10894322 on ClinicalTrials.gov |
What this research studies
This research focuses on congenital heart defects (CHD), which are structural heart malformations present at birth. By gathering a panel of experts in CHD genetics, the project aims to curate and classify genes associated with these defects, improving the accuracy of genetic testing for newborns. The methodology involves analyzing genetic variants to determine their clinical significance, which can help identify actionable co-morbidities in infants. This effort seeks to standardize the understanding of CHD-related genes and enhance diagnostic capabilities.
Who could benefit from this research
Good fit: Ideal candidates for this research are newborns diagnosed with congenital heart defects or those at risk due to family history.
Not a fit: Patients with congenital heart defects that are not genetically linked or those who are older than infancy may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to more accurate diagnoses and better management of congenital heart defects in newborns.
How similar studies have performed: Previous research has shown success in genetic curation for other conditions, indicating a strong potential for this approach in congenital heart defects.
Where this research is happening
BOSTON, UNITED STATES
- BOSTON CHILDREN'S HOSPITAL — BOSTON, UNITED STATES (ACTIVE)
Researchers
- Principal investigator: ROBERTS, AMY E — BOSTON CHILDREN'S HOSPITAL
- Study coordinator: ROBERTS, AMY E
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.
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