PHD TOP-UP SCHOLARSHIP

Developing functional systems biology approaches to complement diagnosis of mitochondrial disease

PhD Top-up Scholarships

$15,750 AUD

22/02/2019 → 16/04/2021

Carolyn Sue

Scholar

Daniella Hock

University

The University of Melbourne

Supervisors

Dr. David Stroud and Prof. David Thorburn

Project Name

Developing functional systems biology approaches to complement diagnosis of mitochondrial disease

Project Details

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