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Cardiovascular Genetics Group


Cardiovascular Genetics Group

Cardiovascular Genetics Group aims to discover the genetic causes of inherited and sporadic heart diseases and a few other rare genetic conditions in South Africa. By studying rare families with monogenic diseases, we hope to identify the mutations that cause disease, improve our understanding of how disease occurs, and identify biological pathways that ultimately may be targeted to relieve symptoms and prevent sudden cardiac death in patients.


The cardiovascular genetics group has made many impactful contributions not just in the field of cardiovascular genetics but other diseases as well. In 2017 they made headline news when they discovered a new gene called CDH2 as the cause of sudden cardiac death in ARVC. In 2013 they found a new gene (FAM111B) as the cause of a newly reported disease called hereditary fibrosing poikiloderma  and in 2009 they reported the first multicenter study on the clinical characteristics, survival experience, and profile of PKP2 gene mutations in patients with ARVC (heart disease) from the African continent. This team is currently led by A/Prof Gasnat Shaboodien. A/Prof Shaboodien and her team have also recently established the first zebrafish unit at the University of Cape Town (UCT), thereby introducing the zebrafish as a new disease model at UCT.


The team are central to many large international studies which will shed new light into the genetics of cardiac diseases. These include the African Cardiomyopathy and Myocarditis Registry Programme (IMHOTEP registry) , which was established in 2015 to study the clinical characteristics, causes, treatment and outcome of 750 cardiomyopathy cases over the next 10 years; (2) the PROTEA registry aims to conduct next-generation sequencing studies in 1200 congenital heart disease samples from multiple centers across South Africa. This will constitute the first large-scale genetic study of CHD conducted in an African. They have also done research on rheumatic heart disease through the (3) RHDGen study. Through RHDGen, genome-wide association is being used to investigate the role of genetic protection and genetic susceptibility alleles in cases with rheumatic heart disease. Through this research we aim conduct genetics and genomics research in children and young adults at participating sites across Africa(Sudan, Nigeria, Kenya, Mozambique, Uganda, Namibia, South Africa).

These studies are all first for Africa and is likely to yield novel insights into the molecular genetics of cardiomyopathy and the outcome and determinants of morbidity and mortality.


Associate Prof. Gasnat Shaboodien



Timothy Spracklen

Stephen Kamuli

Polycarp Ndibangwi


Lameez Pearce

Kim Brooks