Evaluating genes related to severe fetal disorders and stillbirth
ClinGen Expert Curation Panel for Severe Structural Anomalies and Stillbirth
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 ID | NIH-10687993 on NIH RePORTER |
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.
Who could benefit from this research
Good fit: Ideal candidates for this research include pregnant individuals facing diagnoses of severe fetal disorders such as non-immune fetal hydrops or unexplained stillbirth.
Not a fit: Patients with congenital anomalies that are not related to the specific disorders being studied may not receive benefit from this research.
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 performed: 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
New York, United States
- Columbia University Health Sciences — New York, United States (Active)
Researchers
- Principal investigator: Wapner, Ronald — Columbia University Health Sciences
- Study coordinator: Wapner, Ronald
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.