Understanding genetic causes of birth defects in children
Official title: A Comprehensive De Novo Variant Callset for the Gabriella Miller Kids First Pediatric Research Program Birth Defect Data
Funded at Washington University · NIH-10951885 · Data updated 2026-11-12
This study is looking at the genetic changes that can cause birth defects in kids by examining their DNA, and it's designed to help families understand more about these conditions and improve health outcomes for children.
Quick facts
| Grant type | R03 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Washington University NIH-funded |
| Lab location | 1 site (Saint Louis, United States) |
| Project start | August 1, 2024 |
| Project end | July 31, 2026 |
| Funding year | 2024 |
| Award (this year) | $311,000 |
| NIH project number | 1R03HD116062-01 |
| Project ID | NIH-10951885 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research include children aged 0-11 years who have been diagnosed with birth defects or related conditions.
✕Less likely to help
Patients who are older than 11 years or do not have any birth defects may not receive benefit from this research.
What this research studies
This research investigates the genetic factors contributing to birth defects in children by analyzing de novo variants (DNVs) through whole-genome sequencing. The project aims to create a comprehensive callset of DNVs from both nuclear and mitochondrial genomes, which are crucial for understanding the molecular pathways leading to these conditions. By utilizing advanced computational tools, the research will assess the quality and significance of these genetic variants in relation to various birth defects. This work is part of the Gabriella Miller Kids First Pediatric Research Program, which focuses on improving outcomes for children with birth defects and cancers.
Why it matters
Potential benefit: If successful, this research could lead to better understanding and potential therapeutic strategies for children affected by birth defects.
How similar studies have gone: Previous research has shown success in identifying genetic variants associated with birth defects, making this approach promising for further advancements.
Where this research is happening
-
Washington University
Saint Louis, United States Active
Researchers
- Principal investigator: Turner, Tychele Naomi — Washington University
- Study coordinator: Turner, Tychele Naomi
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.