Identifying genetic causes of rare 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-10992638 · Data updated 2026-11-12
This study is looking for specific genes that might cause birth defects in children by using advanced technology and special lab models, so we can better understand these rare conditions and help affected families.
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 | 2025 |
| Award (this year) | $641,122 |
| NIH project number | 5R01HD110447-03 |
| Project ID | NIH-10992638 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are children with undiagnosed rare diseases associated with congenital defects.
✕Less likely to help
Patients with congenital defects that have already been genetically characterized or are not linked to genetic variants may not benefit from this research.
What this research studies
This research aims to identify specific genetic variants that cause congenital defects by utilizing advanced sequencing techniques and innovative cell-based systems. By analyzing a large repository of pediatric genetic data, the team will conduct genome-scale CRISPR screens in organoid models to pinpoint the genes responsible for these defects. The findings will be validated using zebrafish models, providing a comprehensive approach to understanding the genetic underpinnings of rare diseases in children.
Why it matters
Potential benefit: If successful, this research could lead to improved diagnosis and potential therapeutic interventions for children with rare birth defects.
How similar studies have gone: Previous research has shown promise in identifying genetic variants associated with congenital defects using similar genomic approaches, indicating a potential for success in this novel application.
Where this research is happening
-
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
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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.