10.04.2025

Webinar: APC for enhanced variant assessment in cardiac channelopathies

📅 When: May 8, 2025

🕓 Time: 16:00 – 17:00 h CEST

📍Location: Online via Zoom webinars

Join us to learn how Automated Patch Clamp (APC) supports enhanced variant assessment in cardiac channelopathies

Most missense variants are classified as Variants of Uncertain Significance (VUS) due to lack of evidence. A VUS finding is medically unactionable, which hinders cascade testing, family planning, and the practice of precision medicine.

In this webinar, Dr. Chai (Andy) Ng from the Victor Chang Cardiac Research Institute (member of Prof. Jamie Vandenberg’s lab) will explain how calibrated high-throughput patch-clamp assays using population variant controls can provide validated functional evidence to support the pathogenicity of variants detected in patients with inherited heart diseases such as long QT and Brugada syndromes. He will also discuss how these data can be used to estimate risk and penetrance.

If you would like to learn more about the relevant work carried out in the lab of Jamie Vandenberg, please visit: Professor Jamie Vandenberg - Victor Chang Cardiac Research Institute

Agenda

  • Welcome & Introduction (Nanion Technologies)

  • Featured talk: "Automated Patch Clamp for Enhanced Variant Assessment in Cardiac Channelopathies: Improving Classification, and Estimation of Penetrance" by Dr. Chai-Ann Ng, Senior Staff Scientist at Victor Chang Cardiac Research Institute

  • Interactive discussion & Q&A session