Rarity Life Issue 02

Page 30

Photograph by Annie Spratt, Unsplash

Looking to the

FUTURE Africa is one of the most genetically diverse continents, and the African human genome is the oldest, yet fewer than 3% of analysed genomes come from the region. This low level of analysis brings many problems, not least the fact that not all research that has focused on the Caucasian population will have the same validity for this region. However, it does also provide opportunities, as Professor Shahida Moosa, Specialist Consultant in Medical Genetics (Tygerberg Hospital) and Associate Professor of Medical Genetics (Stellenbosch University) explained: “To date, priority has focussed on diseases such as tuberculosis, HIV and infectious diseases. It has meant that historically there has been very little buy-in from the government and other stakeholders to develop the genetic diagnostic and research capabilities, especially with regards to rare diseases, it is hoped that this is slowly changing.”

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