Finding genetic causes of complex childhood rare diseases
Official title: Mapping causal genetic processes in non-Mendelian pediatric rare disease
Funded at Children's Mercy Hosp (Kansas City, Mo) · NIH-11145022 · Data updated 2026-11-12
This work tries to find how complex genetic changes cause rare childhood diseases so that more children with undiagnosed conditions can get clearer answers.
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 | 2025 |
| Award (this year) | $389,220 |
| NIH project number | 5R35GM146966-04 |
| Project ID | NIH-11145022 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates would be children with unexplained congenital or developmental disorders whose prior genetic testing did not produce a diagnosis.
✕Less likely to help
Children whose conditions are already explained by a known single-gene (Mendelian) mutation or who cannot provide samples are less likely to benefit directly.
What this research studies
Researchers will look past the parts of genes usually studied and search the whole genome for genetic changes that could cause rare diseases in children. They will use patient-derived induced pluripotent stem cells grown in the lab to see how specific variants change gene activity and splicing. They will combine these lab results with large population biobanks and computational tools to map how variants disrupt gene networks. Together this approach aims to expand diagnosis beyond classic single-gene causes and reveal new genetic contributors to pediatric conditions.
Why it matters
Potential benefit: If successful, this work could help more children with rare or undiagnosed conditions receive precise genetic diagnoses and point to better-targeted care.
How similar studies have gone: Previous studies using whole-genome sequencing, patient-derived stem cells, and large biobanks have uncovered new diagnoses and functional effects for some rare variants, but fully mapping non-Mendelian causes is still an emerging area.
Where this research is happening
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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.