PhD Top-up Scholarships
10/04/2020 → 24/02/2023
Bio21 Molecular Science and Biotechnology Institute, University of Melbourne
Dr. David Stroud
A functional characterisation of the mitochondrial disease-associated ATAD3 gene cluster
Like clockwork, mitochondria –the powerhouse of the cell– rely on a vast range of turning cogs and wheels –or in other words, proteins– to meet its function of generating energy for the cell. If any of these protein components are defective, missing, or stop functioning as they normally would, the mitochondria can malfunction, giving rise to disease. These diseases can occur at any age, in any organ, and exhibit a plethora of different symptoms. My project focuses on addressing a group of proteins, called ATAD3A, ATAD3B, and ATAD3C, that have been frequently identified to be mutated, causing disease that is often lethal. By doing so, I aim to utilise a range of quantitative and biochemical techniques that would assist me in developing a holistic understanding of their roles in the inner workings of mitochondria, and how exactly their loss of function gives rise to disease. Recent advancements in technologies that allow the rapid, large scale study of different facets of biology systems could pave the way to faster, and better-informed diagnosis of mitochondrial disease. If successful, the standardisation of these techniques could complement current diagnostic tools and significantly improve future clinical procedures.