Webinar information
Inherited heart diseases encompass a range of cardiomyopathies and arrhythmia syndromes that are a leading cause of heart failure and sudden cardiac death in the young. Genetic testing for heritable cardiomyopathies and arrhythmia syndromes is integrated in mainstream clinical care in Australia. However, the current diagnostic yield of cardiac genetic testing is approximately 40% overall, leaving many people without a definitive answer to the underlying cause of their disease and an unknown risk in first-degree relatives.
This webinar will discuss recent genome and transcriptome sequencing studies that have begun to highlight pathogenic variants in non-coding DNA regions that were previously missed or overlooked. These include variants that alter RNA structure by directly impacting RNA splicing, large gene rearrangements, and alterations to essential gene regulatory sequences. Translation of these research findings to clinical genetic testing has significantly enhanced diagnostic precision and has offered hope for tailored therapeutic interventions to patients and their families.
Webinar objectives
- Summarize the genetic causes of inherited heart diseases and sudden cardiac death
- Provide examples of pathogenic non-coding variants that cause inherited heart diseases
- Review the diagnostic strategies that are required to integrate non-coding variant analysis into genetic testing
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Speakers
Richard Bagnall
Dr. Richard Bagnall earned his PhD in Genetics from King's College London, UK. He is the head of the Centre for Cardiovascular Research at the Centenary Institute in Sydney, Australia, where he leads the Bioinformatics and Molecular Genetics Group. His research focuses on uncovering the genetic causes of inherited heart disease and sudden cardiac death in young people, using computational (bioinformatics) and molecular genetics techniques.