Testing genes linked to birth defects using worms, flies, fish, mice, and human cells
Multi-organism platform for functional assessment of human birth defect associated genomic variants
This project tests whether rare gene changes found in children with birth defects or developmental disorders cause health problems by using multiple animal models and human stem cells.
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 ID | NIH-11237072 on NIH RePORTER |
What this research studies
Researchers will start with genetic changes found in families affected by birth defects and use computer analysis to pick the most likely culprits. The team will first test those gene variants in simple organisms like roundworms, fruit flies, and zebrafish to see if they cause similar developmental problems. Promising findings will be followed up in zebrafish, mice, or established human embryonic stem cell lines to study effects on structure and brain development. The goal is to link a patient’s genetic finding to a possible biological cause.
Who could benefit from this research
Good fit: Ideal candidates are children (and their family members) who have birth defects or developmental disorders with rare genetic variants identified by clinical exome or genome sequencing.
Not a fit: People without identified rare genetic variants related to birth defects, or with conditions unrelated to developmental or structural birth defects, are unlikely to get direct benefit.
Why it matters
Potential benefit: If successful, this work could help explain the genetic cause of a child’s birth defect and guide diagnosis and future treatment research.
How similar studies have performed: Related work using single-model organisms or cell systems has confirmed disease-causing variants in some cases, but using a coordinated multi-organism pipeline to scale up variant interpretation is a newer approach.
Where this research is happening
Saint Louis, United States
- Washington University — Saint Louis, United States (Active)
Researchers
- Principal investigator: Solnicakrezel, Lilianna — Washington University
- Study coordinator: Solnicakrezel, Lilianna
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.