Evaluating genes related to severe fetal disorders and stillbirth
Official title: ClinGen Expert Curation Panel for Severe Structural Anomalies and Stillbirth
Funded at Columbia University Health Sciences · NIH-10687993 · Data updated 2026-11-12
This study is looking at birth defects that happen in about 3% of pregnancies to help doctors better understand the genetic causes, so they can provide clearer diagnoses and better care for expecting parents and their babies.
Quick facts
| Grant type | NIH-funded research |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Columbia University Health Sciences NIH-funded |
| Lab location | 1 site (New York, United States) |
| Project start | September 1, 2021 |
| Project end | August 31, 2025 |
| Funding year | 2023 |
| Award (this year) | $348,661 |
| NIH project number | 5U24HD104588-03 |
| Project ID | NIH-10687993 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research include pregnant individuals facing diagnoses of severe fetal disorders such as non-immune fetal hydrops or unexplained stillbirth.
✕Less likely to help
Patients with congenital anomalies that are not related to the specific disorders being studied may not receive benefit from this research.
What this research studies
This research focuses on understanding congenital anomalies that affect approximately 3% of pregnancies, which can lead to serious health issues for infants. It aims to improve the interpretation of genomic data related to these anomalies by establishing expert panels that evaluate the clinical relevance of specific genes and genetic variants. By bringing together specialists from various fields, the project seeks to create a consensus on gene-disease associations and the implications of genetic findings for patient care. This could enhance the ability of healthcare providers to offer accurate diagnoses and appropriate interventions during pregnancy.
Why it matters
Potential benefit: If successful, this research could lead to better diagnosis and management of severe fetal disorders, ultimately improving outcomes for affected pregnancies.
How similar studies have gone: Previous research has shown success in establishing expert panels for genetic interpretation, indicating that this approach has potential for meaningful advancements in the field.
Where this research is happening
-
Columbia University Health Sciences
New York, United States Active
Researchers
- Principal investigator: Wapner, Ronald — Columbia University Health Sciences
- Study coordinator: Wapner, Ronald
Related research
Other NIH-funded projects on the same topics.
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Stillbirth Data Hub: Coordinating Center for Big-Data and AI in Stillbirth Research
A national data hub is being built to coordinate data, biorepository, and analytics for stillbirth research using advanced AI and machine learning.
-
Genetic roots of stillbirth and developmental disorders
A genetic study from Massachusetts General Hospital will look for inherited and new DNA changes that contribute to stillbirth and related developmental disorders in families.
-
Innovative Data Core for Stillbirth Research Center
A data and software core is being built to harmonize and analyze information from multiple sites to uncover why stillbirth happens and to support future prevention.
-
Administrative Core for Stillbirth Research Coordinating Center
A coordination core is being funded to organize and manage data, collaborations, and administration to help stillbirth research move forward.
-
Stillbirth Data Coordinating Center focusing on AI-powered insights
A national data hub is using advanced AI and machine learning to analyze stillbirth data and help researchers find patterns that could prevent or understand stillbirth.
-
NOURISH: nutrition and health factors linked to pregnancy outcomes and stillbirth risk
Aimed at understanding how nutrition and stress-related health factors affect placental function to prevent stillbirths in pregnancies.
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.