Investigators Workshops

Dec
04

Investigators Workshop: Vanquishing the VUS: Strategies for Decrypting Variants of Unknown Significance in Genetic Epilepsies

9:00 AM-10:30 AM
APPs
Clinicians
Fellows/Trainees
Nurses
Pharmacists
Scientists
Technicians

Moderators: Alfred L. George, Jr., MD; and Dianalee McKnight, PhD

Speakers: Stephen F. Traynelis, PhD; Carlos G. Vanoye, PhD; Henrike Heyne, PhD

Learning Objectives

Following participation in this activity, participants will be able to:

  • Describe high throughput experimental approaches for determining the functional consequences of genetic variants in epilepsy-associated genes
  • Assess computational approaches used for predicting the functional consequences of genetics variants associated with epilepsy
  • Discuss how knowledge about ion channel dysfunction can aid variant classification and interpretation, and the potential value of in vitro variant-specific pharmacology for drug development

This workshop investigates functional and pharmacological consequences of variants in genetic epilepsies through a multidisciplinary lens. It is designed to stimulate discussion on the impact of the data on variant classification and their clinical relevance, as well as emphasize the recognition of variant-specific drug responses that have direct relevance to designing treatment strategies that may impact the design of future clinical trials for rare forms of epilepsy.