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