Understanding genetic causes of rare diseases in children
Mapping causal genetic processes in non-Mendelian pediatric rare disease
This study is looking at the genetic causes of rare diseases in kids, especially those that don't follow usual patterns, to help doctors better understand and diagnose these conditions.
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 ID | NIH-10894147 on NIH RePORTER |
What this research studies
This research investigates the genetic factors contributing to rare diseases in children, particularly those that do not follow typical inheritance patterns. By utilizing advanced genome sequencing and computational tools, the project aims to expand the understanding of genetic variants beyond the commonly studied coding regions. The research will analyze a large collection of induced pluripotent stem cells to explore how these genetic variants affect gene regulation and disease phenotypes. This comprehensive approach seeks to improve diagnostic methods for pediatric rare diseases that currently remain undiagnosed in many cases.
Who could benefit from this research
Good fit: Ideal candidates for this research are children aged 0-11 years who are experiencing unexplained rare diseases.
Not a fit: Patients with common genetic disorders or those whose conditions are well understood may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to more accurate diagnoses and better treatment options for children with rare genetic diseases.
How similar studies have performed: Previous research has shown promise in using genome sequencing and computational methods to uncover genetic causes of diseases, indicating that this approach could yield significant insights.
Where this research is happening
Kansas City, United States
- 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 below.