Friedreich ataxia is a rare genetic disorder caused by reduced expression of frataxin, a protein essential for mitochondrial function. Heart disease is the leading cause of premature death in affected individuals, and no cardiac therapy currently exists.
Using patient-derived iPSC-derived cardiac microtissues and individual cardiac cell types including cardiomyocytes, endothelial cells, smooth muscle cells, fibroblasts, and autonomic neurons, alongside mouse models of Friedreich ataxia cardiomyopathy, you will investigate the mechanisms driving cardiac dysfunction and test emerging therapeutic strategies. Our approach targets downstream genes whose dysregulation contributes to disease pathology, using mRNA-based strategies to normalise their expression and rescue cardiac function. Alongside this, we apply lipidomic profiling to characterise disease-associated changes in lipid biology and test lipid-targeted therapeutic agents.
You will work with cardiac models with readouts across contractility, electrophysiology, and mitochondrial biology. This project sits within an active, externally funded research program with established national and international collaborations, including clinical Friedreich ataxia research groups. You will develop expertise in iPSC culture, cardiac microtissue engineering, multi-omic analysis, and therapeutic screening in human and mouse experimental systems.
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