Genetics and Arrhythmias: Beyond Mendel's Peas-When Genetic Burden Reaches Threshold (Presenter: Connie R Bezzina, PhD)

When Genetic Burden Reaches Threshold (Presenter: Connie R Bezzina, PhD)

Video Transcription

Video Summary

The speaker discussed the genetic architecture of inherited cardiac diseases, specifically focusing on monogenic, near monogenic, and oligogenic/polygenic disorders. Monogenic disorders are caused by rare, highly penetrant variants, while near monogenic disorders involve a large genetic defect that is modulated by additional genetic factors. Oligogenic/polygenic disorders require the accumulation of multiple variants to reach the disease threshold. The speaker also mentioned the use of genome-wide association studies (GWAS) to identify common genetic variants associated with electrophysiological traits. These findings could potentially be used to create polygenic risk scores that predict drug-induced QT interval prolongation and other cardiac phenomena.

Meta Tag

Lecture ID 6683

Location Room 203

Presenter Connie R Bezzina, PhD

Role Invited Speaker

Session Date and Time May 09, 2019 10:30 AM - 12:00 PM

Session Number S-013

Keywords

genetic architecture

inherited cardiac diseases

monogenic disorders

near monogenic disorders

oligogenic/polygenic disorders