What is the issue for NSW?
Autosomal Dominant Polycystic Kidney Disease is a common genetic disease, in which cysts overwhelm the kidney, leading to kidney failure. This disease is directly passed through families, and someone who has the disease has a 50% chance of passing it to their children. There are no effective treatments, possibly because the reason cysts develop is unknown. We know from other genetic diseases, that understanding the specific cause of a disease has led to effective treatments. This disease causes about 10% of kidney failure in NSW. Kidney failure is life-limiting and associated with the lowest quality of life of any chronic disease. Developing treatments that slow the disease and stop kidney failure will improve the lives of patients and families living with this disease.
What does the research aim to do and how?
Understanding the exact cause of disease is a vital step in finding a cure. This project will use new genomic sequencing techniques to uncover new knowledge about kidney cysts, that can lead to effective treatments. We will use blood, tissue samples and genomic data from about 250 families living with Autosomal Dominant Polycystic Kidney Disease to focus on the least understood areas of this disease. This includes looking for new types of genetic changes, studying kidney tissue for changes within the kidney cell that could be causing cysts, and investigating if unique errors in DNA-copying could be leading to disease-specific genetic changes. These genetic changes could be targeted by personalised therapies.