Geographic origin and ethnolinguistic diversity of AGenDA participants.Credit: Nature (2026). DOI: 10.1038/s41586-025-09935-7
A newly published paper in Nature describes the complex process of launching a nine-country collaboration in Africa to significantly expand scientists’ understanding of human genetic diversity. This can reveal new insights into diseases such as cancer, mental illness, diabetes, and heart disease, benefiting health systems globally.
The Assessing Genetic Diversity in Africa (AGenDA) project has generated whole-genome sequence data from more than 1,000 individuals from communities that are largely underrepresented in global genomic databases.
It is anticipated that this effort will uncover millions of novel genetic variants that could reshape how disease risk is predicted and how treatments are tailored.
AGenDA is a deeply collaborative project with balanced contributions developed through a process of co-creation. The study includes hunter-gatherer communities, Nilo-Saharan and Afro-Asiatic speakers, understudied Bantu-speaking groups, and North African and Indian Ocean island communities.
In partnership with local research groups, participants were recruited in Angola, the Democratic Republic of Congo, Kenya, Libya, Mauritius, Rwanda, Tunisia, and Zimbabwe with overall project coordination from South Africa.
“Most H3Africa) Consortium. H3Africa is a pan-African initiative established to strengthen genomics research capacity on the continent and ensure that African populations benefit from genomic medicine. H3Africa has supported dozens of large-scale studies, trained scientists across Africa, and created major genomic resources that are now used globally.
One of these resources is AWI-Gen (Africa Wits-INDEPTH Partnership for Genomic Studies), a flagship H3Africa project co-led from wits university. AWI-Gen studies the genetic and environmental drivers of cardiometabolic diseases such as diabetes, obesity, and hypertension in African populations.
“The choice of populations for sequencing in genomic studies has usually been chosen from existing samples. Of course, this has resulted in significant gaps in genomic representation in terms of geography and ethnolinguistic diversity.
“Our strategy of focusing on understudied geographies and identifying partners from these regions has enabled us to address some of the most prominent geographic gaps, such as North Africa, and to make the dataset more comprehensive by including Nilo-Saharan, Afro-Asiatic and African Islander populations that are not adequately represented in current public datasets,” says Dr. Ananyo Choudhury,the co-lead for AGenDA and a senior scientist at SBIMB.
In the long term, AGenDA data will help build African genetic reference databases used for disease research, genetic testing, and medicine worldwide.this will improve research on diseases, such as heart disease, diabetes and other chronic illnesses and infections, that strongly affect African populations. In turn, this will make global medical science more accurate.
“Because African genomes contain the deepest branches of human genetic history, they help scie
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