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SAMJ: South African Medical Journal

versión On-line ISSN 2078-5135
versión impresa ISSN 0256-9574

SAMJ, S. Afr. med. j. vol.101 no.5 Pretoria may. 2011




Launch of the southern African human genome programme



To the Editor: The Southern African Human Genome Programme (SAHGP) is a ground-breaking national and regional initiative that aims to unlock the unique genetic character of southern African populations. Through generous support from the Department of Science and Technology (DST), the SAHGP was officially launched on 27 and 28 January 2011. Its vision is to improve quality of life by understanding human genetic diversity, to be achieved via the following objectives:

1. developing capacity for genomic research in southern Africa

2. establishing a sustainable resource for genomic research (including a regional sample repository and database)

3. translating the information and knowledge into improvements in human health.

The SAHGP includes scientists, medical practitioners, biostatisticians, ethicists, government representatives, lawyers and industry representatives, and is managed and led by southern Africans (emphasising the critical importance of sovereignty); its outputs will benefit southern African populations. The SAHGP will therefore focus specifically on southern African genomes; one of its most important objectives is to build local capacity for genomerelated research to ensure that this programme remains true to its objectives of being Africo-centric and is sustainable.

Evidence suggests that humans evolved in Africa; consequently, the African gene pool is likely to hold import information regarding the selection of genetic variants in response to changing environments. However, this information has not been fully examined in Africa so as to understand population-specific disease burdens and the efficacy of various treatments. The programme aims to make a significant contribution to understanding DNA variation among southern Africans and how this affects the health of the people of the region. Potential long-term benefits include new ways to diagnose, treat and prevent the numerous diseases that affect the people of the region and so alleviate the significant burden this causes.

A significant amount of biological material (including animal, plant and human) has left South Africa over the past few decades. In a country with the potential to build skilled resources, it is important that much of the work be done locally. It is imperative to forge collaborations nationally and internationally, in the public and private sectors, and to remain mindful of the social, ethical and legal contexts. Understanding the pathogenesis of disease in an indigenous population is best done by the people intimately familiar with that region. Southern Africa has some very specific disease patterns that need to be recognised, studied and analysed in a local context, taking into consideration local population structures.

The programme will pool research efforts at a national and regional level and ensure that benefit sharing is achieved. The requisite co-ordination between funders, stakeholders and researchers, and the infrastructure and skills that are needed to obtain the information and analyse it, as well as the sheer quantity of information, make it imperative to run the project at a national and regional level. To ensure its independence, the SAHGP will be structured as an independent non-profit entity which will directly manage its partnerships with national and international collaborators and allied research initiatives such as Human Heredity and Health in Africa (H3Africa), the African Society for Human Genetics, and the Southern African Society for Human Genetics, all of which aim to build genetic and genomic research and service-based capacity in African countries.

In its first phase, the programme is jointly co-ordinated by Michael Pepper and Michèle Ramsay, who may be contacted for further details ( and

The SAHGP core group members are Soraya Bardien-Kruger and Louise Warnich (US), Alan Christoffels (UWC), Jeffrey Mphahlele and Philippus Venter (UL), Hugh Napier and Michael Pepper (UP), Raj Ramasar (UCT), Michèle Ramsay and Himla Soodyall (NHLS/Wits) and Jasper Rees (UWC/ARC).


M S Pepper
Unit for Advanced Studies, University of Pretoria; Extraordinary Professor,
Department of Immunology, Faculty of Health Sciences, University of Pretoria; and
Professeur Associé, Department of Genetic Medicine and Development, Faculty of Medicine, University of Geneva, Switzerland

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