Mapping genetic clues of rare childhood diseases
Official title: Mapping causal genetic processes in non-Mendelian pediatric rare disease
Funded at Children's Mercy Hosp (Kansas City, Mo) · NIH-11386314 · Data updated 2026-11-12
A researcher team at Children’s Mercy is building better ways to understand how genetic differences cause rare diseases in kids by looking beyond simple gene changes.
Quick facts
| Grant type | NIH-funded research |
|---|---|
| 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 | September 16, 2022 |
| Project end | August 31, 2027 |
| Funding year | 2026 |
| Award (this year) | $389,220 |
| NIH project number | 5R35GM146966-05 |
| Project ID | NIH-11386314 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates are children with suspected or confirmed rare genetic conditions who have not yet received a clear genetic diagnosis.
✕Less likely to help
This research is not designed as a treatment test for individual patients and may not directly affect those without suspected genetic etiologies.
What this research studies
This project uses advanced genome and gene-regulation data from many pediatric cell models to interpret how non-Mendelian genetic variants influence disease. It builds on existing resources that link variants to symptoms and develops methods to connect coding and non-coding changes to disease pathways in children. The work involves pluripotent stem cells, genomic assays, and integration with large biobank data to map networks that drive pediatric rare diseases. The goal is to improve diagnosis and illuminate targets for future therapies in kids who currently lack clear explanations for their conditions.
Why it matters
Potential benefit: If successful, this could lead to faster and more accurate diagnoses for children with rare diseases and identify new avenues for treatment.
How similar studies have gone: Prior work has shown that integrated genomic and regulatory analyses can reveal disease-associated variants, supporting potential benefit from this approach.
Where this research is happening
-
Children's Mercy Hosp (Kansas City, Mo)
Kansas City, United States Active
Researchers
- Principal investigator: Smail, Craig — Children's Mercy Hosp (Kansas City, Mo)
- Study coordinator: Smail, Craig
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.