Abstract:
Africa is the continent with the greatest genetic diversity in the world and has a range of very different geographical and social environments, and many pressing health challenges. Paradoxically, it has also been very understudied. The Human Heredity and Health in Africa Consortium (H3Africa), funded by the NIH and Wellcome Trust, has been working over the last 12 years to build genomic resources and capacity for genomics and bioinformatics in Africa. In this talk, I will describe some of the collaborative projects that established and analysed the novel genomics resources, and talk about some of the bioinformatics work done. This includes sequencing under-represented populations and the design of a new genotyping array for African populations. The work has brought about a new understanding of African genetic diversity and history [1, 2]. I will also illustrate the use of these resources in one of our pharmacogenetics projects [3].
I’ll then focus on one of the H3Africa autonomous groups, the AWI-Gen Collaborative Cen tre, with constituent collaborating groups in Burkina Faso, Ghana, Kenya and South Africa, and based at the University of the Witwatersrand, Johannesburg (Wits). AWI-Gen studies genomic and environmental factors in cardiometabolic diseases in African populations. I’ll give an overview of the work (e.g., [4]). Finally, I’ll talk about a new consortium, the NIH-funded Data Science for Health Discovery and Innovation in Africa (DS-I Africa).
1. Choudhury et al. (2020) High-depth African genomes inform human migration and health. Nature 586.
2. Sengupta et al (2021) Genetic substructure and complex demographic history of South African Bantu speakers. Nature Communications 12(2080).
3. Twesigomwe et al (2024). Characterization of CYP2B6 and CYP2A6 Pharmacogenetic Variation in Sub-Saharan African Populations. Clinical Pharmacology and Therapeutics, 115(3)
4. Boua et al (2022). Genetic associations with carotid intima-media
thickness link to atherosclerosis with sex-specific effects in sub-Saharan Africans. Nature Communications, 13(855)
About the speaker:
Scott Hazelhurst is Professor of Bioinformatics in the School of Electrical and Information Engineering and Senior Scientist at the Sydney Brenner Institute for Molecular Bioscience at the University of the Witwatersrand, Johannesburg. He received his MSc from Wits and PhD from the University of British Columbia. He is a co-investigator on the AWI-Gen project and PI of the DS-I Africa MADIVA project exploring the use of data science methods to understand multi-morbidity in African populations.
Scott’s visit to the University of Verona is generously supported by the University of Verona under the MoCoSvi programme (Mobilità per la Cooperazione allo Sviluppo Internazionale) and takes place in the context of collaboration on the PRIN Project 'PINC - Pangenome INformatiCs: from Theory to Applications'.
