Autosomal Dominant Polycystic Kidney Disease (ADPKD) is the most common monogenic kidney disorder. ADPKD commonly leads to End Stage Renal Disease, where patients will require dialysis treatments or kidney transplants.
After demonstrating that WGS can effectively sequence the important ADPKD disease genes (Mallawaarachci et al, 2016), we have developed the world’s first test using whole genome sequencing to diagnose ADPKD, now available through Genome.One.
We are currently focusing on understanding the causes of ADPKD in the 10% of patients who remain undiagnosed. This research is led by Amali Maallawaarachchi (PhD candidate) under the supervision of Dr Mark Cowley and Prof John Shine (Garvan Institute of Medical Research), and our collaborator Dr Tim Furlong (St Vincent’s Hospital).