Pinpointing genetic causes of congenital birth defects
Official title: Systematic Identification and Phenotypic Characterization of causal genetic variants in Rare Disease-Associated Birth Defects
Funded at Children's Mercy Hosp (Kansas City, Mo) · NIH-11237120 · Data updated 2026-11-12
Using children's genetic data, lab-grown mini-organs, and zebrafish tests to find genetic changes that cause congenital birth defects.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Children's Mercy Hosp (Kansas City, Mo) NIH-funded |
| Lab location | 1 site (Kansas City, United States) |
| Project start | December 21, 2022 |
| Project end | November 30, 2027 |
| Funding year | 2026 |
| Award (this year) | $625,959 |
| NIH project number | 5R01HD110447-04 |
| Project ID | NIH-11237120 on NIH RePORTER |
Who could benefit from this research
✓Could help
Children with undiagnosed or rare congenital birth defects who have clinical sequencing data or who can provide tissue samples for organoid creation are the best fit.
✕Less likely to help
People without congenital birth defects or whose conditions are clearly due to non-genetic causes are unlikely to benefit from this project.
What this research studies
If my child has an undiagnosed birth defect, researchers will use a pediatric genetic database of whole-exome or whole-genome sequences to highlight candidate variants. They will recreate those variants in lab-grown organoids made from patient or similar cells and run genome-scale CRISPR screens to see which genes alter development. Promising gene effects will be validated in zebrafish to check for matching developmental problems. The project is built to scale so more families with rare congenital conditions can get clearer genetic answers over time.
Why it matters
Potential benefit: This work could provide definitive genetic diagnoses, better genetic counseling, and point toward future targeted treatments for affected families.
How similar studies have gone: CRISPR screens and patient-derived organoids have linked genes to disease in some examples, but systematically applying them to many rare birth defects is a newer, less-tested approach.
Where this research is happening
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Children's Mercy Hosp (Kansas City, Mo)
Kansas City, United States Active
Researchers
- Principal investigator: Younger, Scott T — Children's Mercy Hosp (Kansas City, Mo)
- Study coordinator: Younger, Scott T
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.