Investigation of the role of ARHGEF6 as a potential novel monogenic cause of congenital anomalies of the kidney and urinary tract

Project start
Institution: Charité – Universitätsklinik Berlin
Applicant: Dr. med. Verena Klämbt
EKFS funding line: Else Kröner Memorial Fellowship
Image: ARHGEF6 mutations lead to congenital anomalies of the kidney and urinary tract
ARHGEF6 mutations lead to congenital anomalies of the kidney and urinary tract
(© Dr. med. Verena Klämbt)

The number of patients with chronic kidney disease (CKD) is on the rise and represents a global health burden. Treatment options for patients with end-stage renal disease are limited to dialysis and renal transplantation. Congenital anomalies of the kidney and urinary tract (CAKUT) are the most common causes of end-stage renal disease in childhood and have a monogenic causation in ~20% of the cases. Dr. Klämbt discovered mutations in the gene ARHGEF6 in pediatric patients with CAKUT using whole exome sequencing. This project will now help to elucidate the role of ARHGEF6 in normal renal development and pathogenesis of this disease by performing cell culture and mouse experiments in order to pave the way for novel treatment options.