Molecular Genetics of Inherited Kidney Disorders Lab

We focus predominantly on autosomal dominant polycystic kidney disease (ADPKD), an inherited disorder in which cysts progressively expand and destroy the kidneys, eventually causing kidney failure. Close to one in 500 Australians are affected by this currently incurable disease. Disease-causing variants in the PKD1 or PKD2 genes are typically responsible for ADPKD, although the function of these genes is not yet fully understood. Single gene testing for ADPKD is unusually complicated and expensive because of the existence of six pseudogenes – non-functional genes that are almost identical to PKD1 and are located right next to it in the genome. We have shown that whole genome sequencing (WGS) can distinguish between the coding PKD1 gene and its pseudogenes, making the possibility of diagnostic testing cheaper and more accurate. WGS can transform clinical approaches to inherited kidney disease. We are committed to improving diagnostics in inherited kidney disease and in understanding the underlying action of the genetic modifications. This project combines clinical and scientific expertise and is run by a small multidisciplinary team of scientists, clinicians and bioinformaticians.