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Cardiovascular Genetics Group

The Cardiovascular Genetics Group (CVG) aims to determine 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.

Group Members

  • Prof. Gasnat Shaboodien | Group Lead
  • Kim Brooks, Senior Secretary
  • Zukiswa Jiki, MSc Student
  • Stephen Kamuli, PhD Student
  • Yandiswa Mabhude, BSc(Hons) Student
  • Polycarp Ndibangwi, PhD Student
  • Lameez Pearce, Research Assistant 

Impact 

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. The team, led by A/Prof Gasnat Shaboodien, 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.

Research Studies

The CVG team has been central to many large international studies with the main aim to 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. They have also done research on rheumatic heart disease through the (3) RHDGen study. Through RHDGen, the genome-wide association was used to investigate the role of genetic protection and genetic susceptibility alleles in cases with rheumatic heart disease and included many recruiting sites across Africa (Sudan, Nigeria, Kenya, Mozambique, Uganda, Namibia, South Africa). These studies are yielding novel insights into the molecular genetics of cardiomyopathy and the outcome and determinants of morbidity and mortality for not only South Africa but the African continent.

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