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Spotlight on:

Dr Chai-Ann Ng, Senior Staff Scientist, Victor Chang Cardiac Research Institute, and shortlisted finalist for the ACvA .

Tell us about yourself...

I developed the first globally validated functional assay for ion channel variants, setting new standards in the field. It provides reliable, high-throughput data that reclassifies Variants of Uncertain Significance (VUS), enabling accurate genetic diagnoses and actionable clinical decisions in cardiac channelopathies, such as long QT syndrome, a heart rhythm disorder that can lead to sudden cardiac death. My functional data not only enhances diagnostic accuracy but also facilitates risk stratification, helping clinicians identify high-risk individuals who may require interventions. My work also promotes personalised treatment by supporting targeted pharmacotherapy based on variant-specific functional defects.

Can you describe the research project funded by the CVMM Theme?

Ion channel is important for regulating the electrical activity and pumping function of the heart. Dysregulation of these ion channels can lead to sudden cardiac arrest, which includes those caused by ‘gain-of-function’ variants found in the cardiac calcium ion channel. There is a clinically unmet need to treat gain-of-function calcium channel-related disorders. Our CVMM-funded project is to use the genetic variant that causes Timothy Syndrome, which is a heart disease that can cause sudden cardiac arrest, to create a genetic model to identify drugs that will benefit Timothy Syndrome patients and may also be able to treat ventricular arrhythmia.

How has the CVMM funding supported your research?

The CVMM funding has allowed me to test the feasibility of our project by performing a small-scale drug screening, exploring the drug library curated by the Australian Lead Identification Consortium, and generating pilot data for future grant applications.

Just for fun, what have you been watching lately?

World’s Toughest Race: Eco-Challenge Fiji, I genuinely admire the endurance of these contestants.