# The Host Genome and the Urinary Microbiome in UTI and GU Structural Defects

> **NIH NIH U54** · COLUMBIA UNIVERSITY HEALTH SCIENCES · 2020 · $235,000

## Abstract

PROJECT 1: PROJECT SUMMARY/ABSTRACT
Congenital Anomalies of the Kidney and the Urinary Tract (CAKUT) account for a large fraction of congenital
malformations and are associated with significant morbidity and mortality in children and young adults. In the
previous funding cycle, we have successfully applied genome-wide association study (GWAS), exome
sequencing, and copy-number variant (CNV) analysis to identify novel genes and loci for different CAKUT
subtypes. These recent findings demonstrate the effectiveness of using genetic approaches to refine clinical
diagnoses and determine the pathogenesis of CAKUT subtypes, specifically vesicoureteral reflux (VUR) and its
complications. Based on this data and the declining cost of sequencing, which allows for genetic testing to be
increasingly incorporated into clinical care, we aim to explore the potential of genetic testing in Urology. To aid
in this endeavor, we have developed a curated list of genes involved in lower urinary tract defects and
determined the frequency of rare variants in these genes in healthy populations. In this application for Project 1
of the Columbia George M. O’Brien Urology Research Center we will determine the diagnostic utility of exome
sequencing for clinical care in patients with simple Urinary Tract Infections (UTIs) and those with lower urinary
tract defects with and without UTIs. We will also identify new genes contributing to VUR and UTI by case-
control exome-wide association study. Additionally, in collaboration with the Microbial Genomics Biomedical
Core, we will examine genotype-phenotype correlations, including analysis of the urinary microbiome in
patients with different mutations and structural defects. Furthermore, we will perform rare variant burden tests
to identify new genes predisposing to UTI and VUR, and examine the implication of these genetic discoveries
to detect novel additional clinical associations with PheWAS and microbiome analysis based on genotype data.
With these aims, we will fulfill the larger mission of the Columbia O’Brien Center by investigating the genetic,
cellular and metabolic basis of UTI as well provide new insight into the pathogenesis of disorders highly
relevant to the field of benign urology while facilitating the introduction of Precision Medicine into the practice of
Pediatric Urology.

## Key facts

- **NIH application ID:** 10022308
- **Project number:** 5U54DK104309-07
- **Recipient organization:** COLUMBIA UNIVERSITY HEALTH SCIENCES
- **Principal Investigator:** ALI G GHARAVI
- **Activity code:** U54 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2020
- **Award amount:** $235,000
- **Award type:** 5
- **Project period:** 2014-09-24 → 2021-09-14

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10022308

## Citation

> US National Institutes of Health, RePORTER application 10022308, The Host Genome and the Urinary Microbiome in UTI and GU Structural Defects (5U54DK104309-07). Retrieved via AI Analytics 2026-05-22 from https://api.ai-analytics.org/grant/nih/10022308. Licensed CC0.

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