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Update on Inherited Retinal Disease in South Africa: Encouraging Diversity in Molecular Genetics

Conference paper
First Online:
Part of the Advances in Experimental Medicine and Biology book series (AEMB, volume 1185)

Abstract

There is a glaring disparity in the populations included in genetic research; the majority of work involves European-derived cohorts, while other global populations – including Africans – are underrepresented. This is also true for the study of inherited retinal diseases. Being the most ancient of extant populations, African samples carry more variation than others, making them valuable for novel gene and variant discovery. The inclusion of diverse populations in research is essential to gain a more comprehensive understanding of genetic variation and molecular mechanisms of disease.

Keywords

Inherited retinal disease Genomics Diversity Africa 
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Copyright information

© Springer Nature Switzerland AG 2019

Authors and Affiliations

  1. 1.UCT/MRC Genomic and Precision Medicine Research Unit, Division of Human Genetics, Department of PathologyInstitute of Infectious Disease and Molecular Medicine, Faculty of Health Sciences, University of Cape TownCape TownSouth Africa

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