Matisse Fox is a Medical Science student currently completing her honours thesis with the Molecular Cardiology Group of the Centenary Institute, University of Sydney.
My Honours thesis focuses on an inherited cardiomyopathy called Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC). The prevalence of ARVC is estimated as 1 in 5000 and is one of the leading causes of arrhythmias and sudden cardiac death in the young, particularly athletes.
My project has 3 facets: analysing the clinical characteristics of our patients, pursuing gene discovery on genetically unexplained ARVC families and developing a stem cell line to explore the phenotype of disease. The most exciting, hands-on part of my work is the cellular aspect. We took blood from an affected patient and reprogrammed their cells to turn them into stem cells. We are able to turn those stem cells into any type we like such as bone, skin or heart cells. Once the stem cells are differentiated into cardiomyocytes, they beat like a heart in the dish. Before starting my project, I had never read a cardiac MRI or post mortem report, assessed the pathogenicity of a variant or used an electronic pipette. Now these are everyday tasks that form the foundation for larger and more stimulating investigations.
I’ve been incredibly fortunate to learn from a diverse group that includes cardiologists, genetic counsellors, post-doctoral researchers, PhD and Masters students, and have found a mentor that I look up to both professionally and personally. Though we work long hours (the majority of which I’ve spent completely confused!), we can see the translation of our research into clinical practice when we tell a family which gene caused the sudden death of their 15 year old son, or when we can release a family from lifelong disease screening. These results for our patients make everything we do worthwhile.