My research program uses high-throughput automated patch-clamp electrophysiology to assess the function of genetic variants found in ion channels expressed in the heart and brain. The focus of my current research is to provide functional evidence for variant reclassification in long QT syndromes and epilepsy.
Through my research, I aim to establish the threshold for determining normal and abnormal function for a range of potassium and sodium channels that are important for regulating the rhythms of the heart and brain.
I have successfully validated our functional genomics KCNH2 assay against a set of known benign and pathogenic KCNH2 variants, which allows us to produce functional evidence that can be used for variant reclassification in the clinic. I will transfer my knowledge and skills to other ion channelopathies and establish the Victor Chang Cardiac Research Institute as a functional genomics testing centre for long QT Syndromes and ion channelopathies.
My current research focuses on developing high-throughput functional genomics assays to determine biological threshold that a variant can be classified as functionally abnormal and improve risk stratification for sudden cardiac arrest in individual that have long QT syndrome.
2021 MRFF Genomics Health Futures Mission grant - High throughput functional genomics assays for ion channelopathies ($2.9m)
Young Biophysicist of the year 2013 - Australian Society for Biophysics