Update on Inherited Retinal Disease in South Africa: Encouraging Diversity in Molecular Genetics.
2019
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.
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