Integration of functional data into clinical interpretation of variants of uncertain significance in Long QT syndrome

Bio: Chai-Ann (Andy) Ng is a Senior Staff Scientist in the Mark Cowley Lidwill Research Program in Cardiac Electrophysiology at the Victor Chang Cardiac Research Institute, Sydney, Australia. He leads a team of four developing high throughput assays for assessing the function of genetic variants found in ion channel genes. He has developed a world-first automated KCNH2 patch-clamp assay that meets the requirements specified by ClinGen for application of functional genomics assays in clinical practice. The KCNH2 assay is a part of research diagnostic platform for the Australian Genomics Cardiovascular Flagship Cohort and has been used to provide functional data for not-for-profit and commercial genetic testing laboratories in Australia, Europe, and the United States.

He is a member of the chief investigator team that in 2022 was awarded an MRFF Genomics Health Future Missions Grant to develop automated patch clamp functional genomics assays for ion channel genes responsible for heart, brain, lung and kidney diseases and is leading the Victor Chang Cardiac Research Institute node for this initiative.