What attracted you to mito research?
Initially, I was unaware of mito and its impact. My research journey started with a simple interest in the inner workings of cells and how proteins –the molecular machinery generated within cells– function to support life. One of my first research projects as an undergraduate student led me to investigate unique mitochondrial proteins found in disease-causing parasites and how some of these proteins are essential for their survival. Then, as I learnt more about human mitochondria and how many proteins are essential for our own survival, my interests gravitated towards building upon our understanding of mitochondrial biology to better inform efforts towards tackling mitochondrial disease.
What is the focus of your PhD and what do you hope to achieve?
My PhD focuses on unravelling the mystery of a cluster of three mitochondrial genes that form a genomic hotspot for mitochondrial disease-causing mutations- the ATAD3 gene cluster. While most multicellular organisms harbor a single copy of ATAD3, this gene has duplicated in humans to form three near-identical copies. Though the ATAD3 gene cluster is one of the top five causes of mitochondrial disease in paediatric patients, it is still unclear as to what their precise molecular functions are, and why their dysfunction gives rise to disease. Nor is it clear why humans have three copies to begin with.
In my PhD, I have developed a cell culture model that has allowed me to individually dissect the functional roles of each of the three ATAD3 genes, as well as to study the effects caused by fatal mutations in this cluster. Eventually I hope to be able to decipher the mechanism of ATAD3-associated disease by combining a host of biochemical techniques with multi-omics technologies –technologies that enable the quantitation of proteins and the multitude of other biomolecules comprising the cell. Using these techniques, I hope to contribute to expanding upon diagnostic tools for identifying and more comprehensively characterising patients afflicted with these rare diseases.
Where do you see yourself in 5 years?
I love working in the lab, and don’t plan on putting down my pipettes anytime soon! I am approaching the latter half of my PhD and, in 5 years’ time, I hope to have lived abroad, and gained new technical skills and experiences as a postdoctoral researcher before returning to Australia with a fresh perspective. I also enjoy teaching, so perhaps I will play a part in teaching the next generation of young scientists seeking to understand mitochondrial biology and disease.
What is your vision for the future for people impacted by mito?
With the rise of genomic sequencing technology, we have already seen the diagnostic outcome of mitochondrial disease patients improve significantly. Hopefully this diagnostic efficiency will improve to even greater heights with the establishment of multi-omic approaches that will allow us to not only monitor for aberrant changes in DNA, but also changes in the numerous other key biomolecules that make up our mitochondria and cells. With improved diagnosis and understanding of the onset of mito, I hope that people impacted by mito in the future will have access to far earlier diagnosis and improved treatments for a better quality of life.
Who are you outside of the lab? (e.g. hobbies, interests, passions)
I love the outdoors as much as I love being indoors! If I’m not at home playing video games, cooking up a treat in the kitchen, or taking care of the many fish and plants inhabiting the apartment, I’m out in the bush going for a hike, strolling along the beach (and checking out the rockpools), or going for a jog by the river. The Australian landscape and the unique life we share it with has a particularly special place in my heart and I try to spend as much time as I can appreciating it in my downtime, and helping to preserve it in the small ways I can.