Project 1


PI: Ali Gharavi, MD
Co-Investigators: Simone Sanna-Cherchi, Miguel Verbistky, PhD, Sneh Lata, PhD

In this project, we will undertake a genomics approach to study the genetic basis of vesicoureteral reflux (VUR) and its complications. Although VUR is highly familial (see below), linkage approaches have only been modestly successful in identifying underlying mutations. In recent years, our lab has successfully applied GWAS, CNV analysis and exome sequencing to identify novel genes and loci for diverse kidney and urological traits. The project will apply these approaches to resolve the genetic architecture of VUR.
We will apply GWAS methodology and CNV analysis to identify genes discovered in familial and sporadic VUR. The study benefits from our own unique cohorts of patients with familial and sporadic VUR, multiple genotyped VUR cohorts contributed by collaborating institutions, as well as a national cohort contributed by the RIVUR study. If successful, this project will introduce personalized genomics in the diagnosis and management of patients with VUR and related complications.