Genetic Medicine of African Populations - Mapping the World's Oldest Genome

The African Population is the oldest population on earth – all humanity originated there. As such, its population is also the most genetically diverse. However, Africa is also the most underfunded region of the world in terms of genetic research, with less than 10% of all sequenced genomic data taken coming from the continent. With such diversity, Africa is a rich resource in terms of genetic discovery. At the same time, the lack of genetic data on the African population means a huge population that is underserved in terms our understanding of genetic diseases, such as Sickle Cell Disease and Fragile X syndrome.

With a base at the University of Cape Town, as well as partners across Africa, the Genetic Medicine of African Populations – or GeneMap – is working hard to increase the funding, visibility and public understanding of genetics in the region, through the design of research programs that will contribute to an entire generation of genomic knowledge within specific disease areas. From DNA sequencing to genetic counselling, big data to ethics, GeneMap is focused on increasing capacity for genetics in Africa, as well as ensuring the general public understand the importance of their genetic background, and that the benefits of genetic mapping stay in Africa.

One key research project focuses on Sickle Cell Disease – a disease based on the change of just a single genetic letter it’s the most common monogenic disease in the world. As such the development of a pipeline for gene therapy in this disease is a realisable goal – and could form the model for much a wider variety of therapies, from stroke to cardiovascular disease.

Hearing Loss is also a major problem in Africa, with 50% of deafness due to genetics. While research into the genetic causes of hearing loss has plateaued in western and Asian populations, there is a still a substantial amount more to learn about its causes in African populations. Through widespread whole exome sequencing in deaf people as well as in their families, GeneMap aims to gain a wealth of knowledge about hearing loss that could impact people all over the world.

In populations with limited exposure to information about genetics, GeneMap are also exploring the ethical impact of genetic research. Fragile X is another monogenic disease that largely affects boys and causes learning disability. With the gene often carried down through generations of minimally impacted women, some communities come to see the impacts of Fragile X as a curse. Through education and counselling, researchers at GeneMap are working to examine and reverse the stigma that comes with some genetic traits.

Throughout these projects, GeneMap are focused on engaging and supporting the general population in the work they do. Working closely with support groups for diseases like Sickle Cell disease, researchers are able to recruit donors for research as well as gain the insights of people living with the disease to inform the kinds of research they’re doing. Through active engagement with the deaf community, GeneMap also hired deaf members of staff to ensure continuous communication with the community involved in this research.
www.sickleinafrica.org
www.genemap.org

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