As our reference genome resource grows in size and accuracy, we are working with others to better understand the causes and potential management of serious conditions that disproportionately affect Indigenous Australians. Current projects explore chronic kidney disease, drug–gene interactions (pharmacogenes), and the ways genetic differences can influence how our bodies process medicines and nutrients. We are also studying the role of larger genetic changes, called structural variants, in the development of disease. Our research aims to predict how genetic variants may affect human metabolism and overall health, creating opportunities for earlier detection and more tailored treatment strategies. As a result of this work, we have already been able to connect an individual with medical services after identifying their genetic risk for Machado Joseph Disease.