PHD TOP-UP SCHOLARSHIP

Mitochondrial disease occurs when the mitochondria – the power plants of cells – fail to produce enough energy for cell and organ function. In Australia, at least 60 babies are born every year
with a severe type of mitochondrial disease. Due to the genetic complexity and therefore variation between people, between 40-75% of suspected patients remain undiagnosed. My project focuses on developing a personalised diagnostic method called proteomics for undiagnosed mitochondrial disease patients. Unlike DNA sequencing, proteomics can identify and quantify defects in thousands of proteins. The protein information about a patient will be used to improve the speed and accuracy of diagnosis, and potentially drive future clinical decisions such as access to treatments and reproductive options