The 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.
In sub-Saharan Africa, rheumatic heart disease (RHD) is a common auto-immune condition that results in heart failure, infective endocarditis, stroke, perinatal and maternal mortality. There is convincing evidence that RHD results from the interaction between host genes, group A β haemolytic streptococcal (GAS) pharyngitis, and social conditions of poverty. The vision of our research is to establish a representative network of investigators to identify the genes responsible for susceptibility and resistance to RHD and Sydenham’s chorea (a neurological manifestation of acute rheumatic fever (ARF)), and determine the molecular epidemiology of streptococcal pharyngitis in sub-Saharan Africa.
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 to (i) build a clinical and laboratory infrastructure for the phenotyping of patients with RHD and streptococcal pharyngitis, (ii) identify the genes involved in susceptibility and resistance to RHD, (iii) elucidate the molecular epidemiology of GAS pharyngitis in sub-Saharan Africa, (iv) provide short-courses, masters and PhD-level training for African clinicians and scientists in clinical science, genetics, statistics, bioinformatics, and bioethics, and (v) develop a framework to address the ethical, legal, and social issues of conducting genetics and genomics research in children and young adults at participating sites across Africa(Sudan, Nigeria, Kenya, Mozambique, Uganda, Namibia, South Africa).
The African Cardiomyopathy and Myocarditis Registry Programme (the IMOTEP Study) is a pan-African multi-centre prospective cohort study with four objectives: (1) to phenotype and classify patients with cardiomyopathy into familial and non-familial disease according to the European Society of Cardiology (ESC) criteria7; (2) to conduct genetic studies of causal genes in familial disease, and genetic association studies for susceptibility genes in cases of non-familial disease, (3) to establish the prevalence of myocarditis using CMR and histology at two centres where this capacity exists (Cape Town and Johannesburg), and (4) determine the outcome of cardiomyopathy in Africans.
This study is likely to yield novel insights into the molecular genetics of cardiomyopathy, the role of myocarditis in the pathogenesis of the disease, the outcome and determinants of morbidity and mortality.
UCT in collaboration with the Hatter Institute for Cardiovascular Research in Africa and Groote Schuur Hospital will be hosting the first investigators meeting for The African Cardiomyopathy and Myocarditis Registry Program.
All investigators, their institutions and their e-mail addresses:
South Africa - University of Cape Town: BM Mayosi, firstname.lastname@example.org; K Sliwa, email@example.com; N Ntusi, firstname.lastname@example.org; S Kraus, email@example.com; A Wonkam, firstname.lastname@example.org; N Laing, email@example.com; G Shaboodien, firstname.lastname@example.org; H Wainwright, email@example.com; M Badri, firstname.lastname@example.org. Walter Sisulu University: B Longo-Mbenza, email@example.com; L Pepeta, firstname.lastname@example.org. Stellenbosch University: P Brink, email@example.com; J Lawrenson, firstname.lastname@example.org. WITS: R Nethononda, email@example.com; F Peters, firstname.lastname@example.org; A Cilliers, email@example.com; H Ntsinjana, firstname.lastname@example.org. Mozambique - Instituto Nacional de Saúde de Moçambique: A Mocumbi, email@example.com. Kenya – Moi University: A Barasa, firstname.lastname@example.org; G Bloomfield, Gerald.email@example.com. Nigeria – University of Abuja: D Ojji, firstname.lastname@example.org. Senegal – University of Dakar: S Ba, email@example.com. United Kingdom – University of Oxford: H Watkins, firstname.lastname@example.org; S Neubauer, email@example.com; V Ferreira, firstname.lastname@example.org; Masliza Mahmod, email@example.com. University of Manchester: B Keavney, firstname.lastname@example.org. University of Newcastle-upon-Tyne: H Cordell, email@example.com
Our work on rare disorders includes the characterisation of a new genetic disease, hereditary fibrosing poikiloderma as well as the disease-causing gene, FAM111B. Another current project is a study of the genetics of early-onset Alzheimer’s disease in African families using next-generation sequencing.
Associate Prof. Gasnat Shaboodien
Tel: +27 (0)21 406 6358
Address: 4th, 5th & 6th Floor
Chris Barnard Building
Faculty of Health Sciences
University of Cape Town
Private Bag X3 7935
Observatory, South Africa