Cameron McKnight is a Master of Biomedical Science student within the Mitochondrial Research group at MCRI, which is part of our Genetics theme. 

Tell us about your research and what you hope to achieve?

I study genetic disorders that affect mitochondrial function. Mitochondrial disease is a rare disorder, but it affects more than 1 in 5000 children born each year. A diagnosis can be devastating for the children affected and their families.

Over 270 genes are known to cause this disease, making diagnoses difficult and time consuming. However, with the decreased cost of genomic sequencing, diagnostic rates are improving. There are currently no known treatments, but that's where I hope to come in.

I have generated human embryonic stem cell lines to model specific genetic mutations commonly seen in children. Using these lines, I can differentiate the stem cells into the most affected tissues and study the effects of various candidate drugs. I hope my research will provide a means of collecting pre-clinical trial data. This would get us one step closer to finding a treatment and improving the quality of life for these children and their families.

What made you interested in child health research and what led you to pursue it full time?

I have wanted to work in paediatrics for many years. When I was young my best friend and I was at the Canadian junior national championships for swimming when – at just 13 years old – she suffered a stroke. The neurosurgeon that saved her has been a role model to me since that day, he inspired me to pursue research. I consider doing medicine from time to time, but honestly, I feel that research is what drives medical advancement and I always want to be on the cutting edge.

How did you end up at MCRI?

As a Canadian undergraduate applying to graduate school I never knew where I would end up, but did I ever luck out. I just searched for mitochondrial labs researching CRISPR (a gene editing technology) and stem cells. After scouring the globe, I could not have found a more perfect project or lab. I am honoured to work under Dr David Thorburn and his team. Their work is exemplary and I really feel like part of a family in their lab.  

The research that comes out of MCRI speaks for itself. MCRI's association with the University of Melbourne really opens the doors for student research opportunities. I certainly feel like I have gotten an incredible opportunity here.

What do you love about working at MCRI?

I really enjoy the student engagement and development opportunities. I attend every student event I can and love the myriad of speakers MCRI brings in for the various seminar series run on campus. They show students the opportunities available by showcasing all different types of research being conducted both inside and outside the Institute. I also have greatly benefited from the knowledge of other groups on campus during my Masters.

As treasurer of the Research Students Association, I am involved in organising student events on campus. This has allowed me to connect with so many great young researchers and make some great friends along the way.

What made you want to study within the genetics/mitochondrial research field?

First off, I just love genetics. I have always thought gene editing is an incredible technology that will define an era of biological research.

In regard to mitochondrial research, during my undergrad I minored in neuroscience and in nearly every case I studied, mitochondria always had a role to play. Then a professor I had – who worked in mitochondrial research – showed me just how much of a difference you could make in the life of a family affected by mitochondrial disease as a researcher. Her stories made me reconsider my next steps in education. I actually hope to continue on at MCRI next year with a PhD in the same lab. Fingers crossed!

For more information and support services for mitochondrial disease: