Human Heredity and Health in Africa

Human Heredity and Health in Africa, or H3Africa, is an initiative to study the genomics and medical genetics of African people. Its goals are to build the continent's research infrastructure, train researchers and clinicians, and to study questions of scientific and medical interest to Africans.[1] The H3Africa Consortium was formally launched in 2012 in Addis Ababa and has grown to include research projects across 32 countries, a pan-contintental bioinformatics network, and the first whole genome sequencing of many African ethnolinguistic groups.[2][3]

Human Heredity and Health in Africa (H3Africa)
Commercial?No
Type of projectScientific initiative
LocationAfrica
Established2012 (2012)
FundingSupported by the African Academy of Sciences, National Institutes of Health, and Wellcome Trust
StatusActive
Websiteh3africa.org

History

The H3Africa initiative was conceived to address inequalities in global health and genetic research. The African Society of Human Genetics, the United States' National Institutes of Health (NIH), and the United Kingdom's Wellcome Trust convened in 2009 in Yaoundé, Cameroon to create a research agenda to address these inequalities, and in 2010 H3Africa was announced.[4] Though significant progress had been made in genomics to that point, African scientists were typically not involved in collaborations beyond sample collection, and very few medical genetics studies were carried out on African populations despite their considerable genetic variation. One of the goals of the consortium became to train and retain African scientists and to develop genomic infrastructure of the continent in support of such studies.[1] The policy framework for the initiative was centred around fairness in genomics and avoiding exploitation while building the continent's research capacity. This led to a strong emphasis on African leadership and giving African researchers preferential access to resources like funding, samples, and data.[5]

Projects

Since its inception, members of the H3Africa Consortium have started several major projects and developed H3ABioNet, a pan-continental bioinformatics network.[2] Studies have focused on topics including cardiovascular disease, schizophrenia, and communicable diseases such as trypanosomiasis and HIV. Several genetic loci related to stroke have been discovered, and the H3Africa array was developed to better suit single nucleotide polymorphisms (SNPs) that were common in African populations and act as a base for genome-wide association studies.[6]

To study cardiovascular disease, the group developed the Cardiovascular H3Africa Innovation Resource (CHAIR), which combined six different projects across 15 countries with the goal of eventually recruiting 55,000 study participants.[7]

The Consortium published a major study in 2020 reporting on the whole genome sequencing of 426 individuals from ethnolinguistic groups across Africa, discovering numerous areas of the human genome under strong selection involved in immune response and DNA repair and metabolism.[8] The study was a major milestone in genomics, identifying over three million new genetic variants.[9]

References
  1. The H3Africa Consortium; Matovu, E.; Bucheton, B.; Chisi, J.; Enyaru, J.; Hertz-Fowler, C.; Koffi, M.; Macleod, A.; Mumba, D.; Sidibe, I.; Simo, G. (2014-06-20). "Enabling the genomic revolution in Africa". Science. 344 (6190): 1346–1348. Bibcode:2014Sci...344.1346.. doi:10.1126/science.1251546. ISSN 0036-8075. PMC 4138491. PMID 24948725.
  2. Ramsay, Michèle; Sankoh, Osman; as members of the AWI-Gen study and the H3Africa Consortium (April 2016). "African partnerships through the H3Africa Consortium bring a genomic dimension to longitudinal population studies on the continent". International Journal of Epidemiology. 45 (2): 305–308. doi:10.1093/ije/dyv187. ISSN 0300-5771. PMC 5841636. PMID 26659658.
  3. TrypanoGEN Research Group; H3Africa Consortium; Choudhury, Ananyo; Aron, Shaun; Botigué, Laura R.; Sengupta, Dhriti; Botha, Gerrit; Bensellak, Taoufik; Wells, Gordon; Kumuthini, Judit; Shriner, Daniel (2020-10-29). "High-depth African genomes inform human migration and health". Nature. 586 (7831): 741–748. doi:10.1038/s41586-020-2859-7. ISSN 0028-0836.
  4. "Learn About H3 Africa | The Human Heredity and Health in Africa". H3Africa. Retrieved 2020-10-30.
  5. de Vries, Jantina; Tindana, Paulina; Littler, Katherine; Ramsay, Michèle; Rotimi, Charles; Abayomi, Akin; Mulder, Nicola; Mayosi, Bongani M. (March 2015). "The H3Africa policy framework: negotiating fairness in genomics". Trends in Genetics. 31 (3): 117–119. doi:10.1016/j.tig.2014.11.004. PMC 4471134. PMID 25601285.
  6. Mulder, Nicola; Abimiku, Alash'le; Adebamowo, Sally N.; Vries, Jantina de; Matimba, Alice; Olowoyo, Paul; Ramsay, Michele; Skelton, Michelle; Stein, Dan J. (2018-04-10). "H3Africa: current perspectives". Pharmacogenomics and Personalized Medicine. doi:10.2147/pgpm.s141546. PMC 5903476. PMID 29692621. Retrieved 2020-11-01.
  7. Owolabi, Mayowa O; Akpa, Onoja M; Made, Felix; Adebamowo, Sally N; Ojo, Akinlolu; Adu, Dwomoa; Motala, Ayesha A; Mayosi, Bongani M; Ovbiagele, Bruce; Adebamowo, Clement; Tayo, Bamidele (2019-04-01). "Data Resource Profile: Cardiovascular H3Africa Innovation Resource (CHAIR)". International Journal of Epidemiology. 48 (2): 366–367g. doi:10.1093/ije/dyy261. ISSN 0300-5771. PMC 6469307. PMID 30535409.
  8. TrypanoGEN Research Group; H3Africa Consortium; Choudhury, Ananyo; Aron, Shaun; Botigué, Laura R.; Sengupta, Dhriti; Botha, Gerrit; Bensellak, Taoufik; Wells, Gordon; Kumuthini, Judit; Shriner, Daniel (2020-10-29). "High-depth African genomes inform human migration and health". Nature. 586 (7831): 741–748. doi:10.1038/s41586-020-2859-7. ISSN 0028-0836.
  9. "Africa's people must be able to write their own genomics agenda". Nature. 586 (7831): 644–644. 2020-10-28. doi:10.1038/d41586-020-03028-3.
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