15 December 2020
Baker Institute researchers will lead a pivotal study that aims to understand which genes are important and why in driving genomic risk of coronary artery disease, the leading cause of death in Australia.
The study, made possible thanks to an Ideas Grant from the NHMRC of nearly $1 million, could lead to fundamental changes in the way we diagnose, treat and prevent coronary artery disease.
One in four people that have a heart attack do not have traditional risk factors such as high blood cholesterol levels. This highlights the importance of ‘family history’ or genetic risk.
That’s why this study will be so significant in helping determine which genes are important in contributing to this genetic risk and how these genes change biological pathways to increase risk. It will also assess the effectiveness of modulating these pathways to reduce the risk of heart disease.
This radically different approach to treating coronary artery disease is founded upon data demonstrating that genomic risk for this disease elicits specific and measureable molecular changes that are detectable before the onset of disease, which represent unexplored opportunities for diagnostic and therapeutic approaches.
The pioneering study to validate and define this approach will be led by the Institute’s Head of Lipid Metabolism and Cardiometabolic Disease, Associate Professor Anna Calkin.
Associate Professor Calkin will work with Munz Chair of Cardiovascular Prediction and Prevention at the Baker Institute, Professor Mike Inouye and colleague, Dr Adam Butterworth from the University of Cambridge, to determine early and causal molecular changes that drive disease in high-risk individuals so intervention can be provided early.
The study builds on seminal research across the Institute to develop and validate polygenic risk scores to help predict and prevent heart disease.
It will be the first study to test the concept of using these risk scores for therapeutic identification and validation.
Coronary artery disease kills 48 Australians every day. The risk of developing this disease is determined by a complex interplay between genetic predisposition and exposure to environmental triggers. Much work has defined environmental triggers that increase risk, such as high blood pressure; however, approximately 25 per cent of coronary artery disease events occur in people that have low or no risk according to conventional risk factors, highlighting the strong influence of genetics.
With technological and analytical advances, researchers have begun to make major in-roads into understanding the genomic risk of coronary artery disease, and this study aims to advance that important work.
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