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2020 - High Throughput screening of missense variants in KCNH2

icon sp96   SyncroPatch 384PE (a predecessor model of SyncroPatch 384) presentation (slide deck)  logo pdf (3 MB)

Presenter:
Prof. Dr. Jamie Vandenberg, co-deputy director and head of cardiac electrophysiology
The Victor Chang Cardiac Research Institute, Australia 

Source:
The 64th Annual Meeting of the Biophysical Society, San Diego, CA (USA)
Feb 15-19. 2020

Abstract:
Mutations in the KCNH2 gene are a well-established cause of sudden cardiac death, resulting from disturbed electrical signalling, in otherwise healthy young people. Yet, the majority of missense variants identified in KCNH2 are likely to be benign. To differentiate between benign and pathogenic variants in KCNH2 we have developed a high throughput functional assay using the syncropatch 384PE automated patch clamp system.

The Victor Chang Cardiac Research Institute is an independent, not-for-profit, medical research facility that is dedicated to finding cures for cardiovascular disease. Renowned for the quality of its breakthroughs, the Victor Chang Cardiac Research Institute is one of the most respected heart research facilities in the world.

Learn more about the current PhD Projects available at the Victor Chang Cardiac Research Institute here

Learn more about the current PhD Scholarships available at the Victor Chang Cardiac Research Institute here 

Access our recent publication where we looked at KCNH2 variants. Currently featured in the March 2020 edition of Heart Rhythm - Elsevier

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