Understanding genetic causes of birth defects using multiple organisms
Official title: Multi-organism platform for functional assessment of human birth defect associated genomic variants
Funded at Washington University · NIH-10992664 · Data updated 2026-11-12
This study is looking at how certain genes might cause birth defects in babies, using different animals to help understand these connections better, so we can learn more about the genes that may be involved in these conditions.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Washington University NIH-funded |
| Lab location | 1 site (Saint Louis, United States) |
| Project start | December 20, 2022 |
| Project end | November 30, 2027 |
| Funding year | 2025 |
| Award (this year) | $625,432 |
| NIH project number | 5R01HD110556-03 |
| Project ID | NIH-10992664 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research include infants and children diagnosed with birth defects or developmental disorders linked to genetic variants.
✕Less likely to help
Patients with birth defects not associated with genetic variants or those with environmental causes may not benefit from this research.
What this research studies
This research investigates the genetic variants associated with birth defects, which affect 3-5% of infants in the U.S. each year. By utilizing a multi-organism approach, including model organisms like C. elegans, Drosophila, and zebrafish, the study aims to connect genetic variants to specific birth defect phenotypes. The research will analyze clinical exome sequences from families to identify candidate gene-variants that may be responsible for these conditions, ultimately assessing their effects in vertebrate models. This approach seeks to enhance our understanding of previously uncertain genes and their roles in developmental disorders.
Why it matters
Potential benefit: If successful, this research could lead to improved identification of genetic causes of birth defects, enabling better diagnosis and potential interventions for affected families.
How similar studies have gone: Previous research has shown success in using model organisms to identify genetic causes of diseases, making this approach promising yet still innovative.
Where this research is happening
-
Washington University
Saint Louis, United States Active
Researchers
- Principal investigator: Solnicakrezel, Lilianna — Washington University
- Study coordinator: Solnicakrezel, Lilianna
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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.