Cardiac contraction relies on precise regulation of sarcomeric proteins. Variants in genes encoding or controlling these proteins cause

cardiomyopathies—complex diseases marked by structural and functional dysfunction that can lead to heart failure and death. Current

therapies largely target downstream symptoms rather than underlying molecular defects. To enable precision therapies, defining disease

mechanisms is essential. In this presentation, I will outline this research program, focusing on recent discoveries defining the molecular function

of ALPK3, a newly identified cardiomyopathy gene, and the development of a first-in-class targeted therapeutic strategy.

About the speaker: James is a National Heart Foundation Future Leader Fellow and Team Leader of the Muscle Signalling

group at the Murdoch Children’s Research Institute. His research focuses on the molecular mechanisms of genetic

cardiomyopathies, with an emphasis on developing targeted therapies. His program integrates physiological analysis of human

pluripotent stem cell models, preclinical mouse studies, and patient myocardial tissue with advanced multi-omics approaches.

His work has contributed to key discoveries in cardiac muscle biology and is supported by national and international funding.