Research Projects

Congenital anomalies of the kidney and urinary tract (CAKUT), associated with early onset diabetes, are the most frequent cause of end-stage renal disease (ESRD). The genetic and molecular basis of CAKUT is still unknown in most patients, making it crucial to identify causal variants for molecular diagnosis. Previous studies on targeted panel sequencing have not provided much yield in disseminating the genetic etiology of CAKUT. A recent study on south Indian children with CAKUT did not identify any disease-causing variants. There is a need for a better method like whole exome sequencing (WES) or whole genome sequencing (WGS) to investigate the genetic etiology of Indian patients with CAKUT on a larger scale. In a preliminary work supported by SERB, researchers screened common genes implicated in congenital renal abnormalities in 150 young diabetic patients with different congenital renal anomalies. Mutations were identified in 11.3% of the patients with renal abnormalities. To address this, researchers aim to perform whole exome sequencing using next-generation sequencing methodology in 133 young diabetic Indian patients with congenital renal abnormalities. The identified novel variants will be functionally evaluated to demonstrate their pathogenicity in predisposing to renal abnormalities. This will be the first major genetic study on young diabetic patients with renal abnormalities, helping explain the genetic etiology in most CAKUT cases and adding to the spectrum of variations associated with CAKUT in the Indian population. The results will provide molecular diagnosis, early detection of renal disease, better treatment, and genetic counseling.