1787 THE RELEVANCE OF GENETICS RESEARCH
Dr Sarah Kraus, specialist physician, and Dr Gasnat Shaboodien, molecular geneticist, UCT
Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited heart muscle disease that
causes premature sudden cardiac death in young people. UCT researchers, in collaboration with Italian and Canadian research laboratories, recently discovered a novel genetic cause for ARVC in two South African families, the CDH2 gene mutation.
The first lecture will explore sudden cardiac death in young people, the causes and the impact it has on families. It will focus on the condition known as ARVC, specifically how this condition is diagnosed and treated. It will discuss how ARVC is inherited, the role of genetic testing in families and the relevance of finding a genetic cause for this condition.
The second lecture will cover the genetics work, done over more than twenty years, that led to the discovery of this gene mutation. It will explore the different technologies and techniques utilised in genetics research and the importance of collaboration.
1. Sudden cardiac death, the disease known as ARVC and the clinical relevance of genetics research
2. The CDH2 gene mutation: exploring twenty years of genetics work