African human genome initiative

Wits Professor Michele Ramsay is part of a team that has recently been successful in securing seed-funding from the Department of Science and Technology (DST) to kick-start the groundbreaking national Southern African Human Genome Programme (SAHGP). It will involve collaboration between scientists at education institutions, science councils, government and industry.

While still in its infancy, the programme aims to make a significant contribution to the understanding of DNA variation among southern Africans and how this impacts on the health of the people of our country. Potential long term benefits could include new ways to diagnose, treat, and eventually prevent the numerous diseases and disorders that affect the people of this region.

"The vision of the SAHGP is to improve the quality of life through understanding human genetic diversity, and the mission is to develop capacity for genomic research in South Africa, to establish a sustainable resource for genomic research (including a national database) and to translate the information into improvements in human health," says Ramsay, who also hails from the Division of Human Genetics at the National Health Laboratory Services.

Gather information

Two critical objectives of the SAHGP are to gather information about the pathogenesis of human disease in order to use this for medical benefit, as well as to develop the required bioinformatics skills and capacity that are needed to analyse the vast amount of data that will be generated.

The programme will pool research efforts at a national level and ensure that benefit-sharing is achieved including the communities from which the genetic material is obtained. The infrastructure and skills that are required to obtain the information and analyse it, as well as the sheer quantity of information, makes it imperative to run the project at a national level.

Phase 1

"The current DST funding will be used towards Phase 1 of the programme, which is aimed at getting stakeholders together in order to make their contributions and inputs. This phase will culminate in the development of a detailed project proposal outlining the requirements for the establishment and requisite funding for this endeavour," says Ramsay.

The programme anticipates significant international interest and funding, and dovetails with other initiatives including the Human Heredity and Health in Africa initiative (H3Africa) which aims to build genomic research capacity in African countries.

Genomic sovereignty

Ramsay says while obtaining international input will be vital to the success of the SAHGP, it is critical that the notion of genomic sovereignty is kept uppermost when identifying the way forward. "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 the bulk of the work is done locally."

She adds: "Understanding the pathogenesis of disease in an indigenous population is best done by the people of that area. Southern Africa has some very specific patterns of diseases that need to be recognised, studied and analysed in a local context taking into consideration the population structures of the region."

Southern African genomes

The SAHGP will focus specifically on southern African genomes and one of its most important objectives is to build local capacity for genome related research. Bioinformatics skills are highly sought after all over the world, and this programme creates an opportunity in South Africa to ensure that we are not only 'training for export'. "This initiative is unique in that, up to this point, research on African genomes has not been done to any appreciable degree on the African continent. It is our hope that this element of pioneering will act as an incentive for the people that are trained through the programme to remain in the country and to make a contribution locally. It is a programme for southern Africa by southern Africans," says Ramsay.

In its first phase, the programme is jointly coordinated by Prof. Michael Pepper from the University of Pretoria and Prof. Ramsay. - (December 2010)

Source: Wits University press statement

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