Genetic testing to improve diagnosis and care for children with urinary tract birth defects
Official title: Core-001
Funded at Columbia University Health Sciences · NIH-11579833 · Data updated 2026-11-12
A study in kids with congenital kidney and urinary tract problems will see how exome sequencing can improve diagnosis and guide clinical care.
Quick facts
| Grant type | NIH-funded research |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Columbia University Health Sciences NIH-funded |
| Lab location | 1 site (New York, United States) |
| Project start | September 24, 2014 |
| Project end | July 31, 2028 |
| Funding year | 2026 |
| Award (this year) | $299,999 |
| NIH project number | 5U54DK104309-13 |
| Project ID | NIH-11579833 on NIH RePORTER |
Who could benefit from this research
✓Could help
Children and young people with congenital kidney and urinary tract abnormalities, including vesicoureteral reflux and related UTIs.
✕Less likely to help
Patients without detectable contributory genetic variants or those whose care would not change based on genetic results.
What this research studies
This project looks at how adding genetic testing to standard care could help children with conditions like vesicoureteral reflux and other congenital urinary tract defects. Researchers will use exome sequencing and analyzed gene lists to identify rare variants that may explain a child’s condition. The goal is to determine how often genetic results change clinical decisions and how sequencing can be integrated into routine care for UTIs and lower urinary tract defects. The work is anchored at Columbia University and builds on previous genetic findings in CAKUT.
Why it matters
Potential benefit: If successful, genetic testing could lead to more accurate diagnoses and more personalized care for children with urinary tract birth defects.
How similar studies have gone: Previous studies showed genetic approaches can refine diagnoses in CAKUT and related conditions; this project extends those findings.
Where this research is happening
-
Columbia University Health Sciences
New York, United States Active
Researchers
- Principal investigator: Mendelsohn, Cathy Lee — Columbia University Health Sciences
- Study coordinator: Mendelsohn, Cathy Lee
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.