Mboowa Gerald, Mwesigwa Savannah, Katagirya Eric, Retshabile Gaone, Mlotshwa Busisiwe C, Williams Lesedi, Kekitiinwa Adeodata, Kateete David, Wampande Eddie, Wayengera Misaki, Kintu Betty Nsangi, Kisitu Grace P, Kyobe Samuel, Brown Chester W, Hanchard Neil A, Mardon Graeme, Joloba Moses, Anabwani Gabriel, Pettitt Ed, Tsimako-Johnstone Masego, Kasvosve Ishmael, Maplanka Koketso, Mpoloka Sununguko W, Hlatshwayo Makhosazana, Matshaba Mogomotsi
Department of Immunology and Molecular Biology, College of Health Sciences, Makerere University, Kampala, Uganda.
Department of Medical Microbiology, College of Health Sciences, Makerere University, Kampala, Uganda.
AAS Open Res. 2018 Jun 21;1:3. doi: 10.12688/aasopenres.12832.2. eCollection 2018.
: Here, we describe how the Collaborative African Genomics Network ( of the Human Heredity and Health in Africa (H3Africa) consortium is using genomics to probe host genetic factors important to the progression of HIV and HIV-tuberculosis (TB) coinfection in sub-Saharan Africa. The H3Africa was conceived to facilitate the application of genomics technologies to improve health across Africa.. : is an H3Africa collaborative centre comprising expertise from the University of Botswana; Makerere University; Baylor College of Medicine Children's Clinical Centers of Excellence (COEs) in Botswana, Uganda, and Swaziland; as well as Baylor College of Medicine, Texas. The COEs provide clinical expertise for community engagement, participant recruitment and sample collection while the three University settings facilitate processing and management of genomic samples and provide infrastructure and training opportunities to sustain genomics research. : The project has focused on utilizing whole-exome sequencing to identify genetic variants contributing to extreme HIV disease progression phenotypes in children, as well as RNA sequencing and integrated genomics to identify host genetic factors associated with TB disease progression among HIV-positive children. These cohorts, developed using the COEs' electronic medical records, are exceptionally well-phenotyped and present an unprecedented opportunity to assess genetic factors in individuals whose HIV was acquired by a different route than their adult counterparts in the context of a unique clinical course and disease pathophysiology. : Our approach offers the prospect of developing a critical mass of well-trained, highly-skilled, continent-based African genomic scientists. To ensure long term genomics research sustainability in Africa, contributes to a wide range of genomics capacity and infrastructure development on the continent, has laid a foundation for genomics graduate programs at its institutions, and continues to actively promote genomics research through innovative forms of community engagement brokered by partnerships with governments and academia to support genomics policy formulation.
在此，我们描述了非洲人类遗传与健康（H3Africa）联盟的非洲基因组学合作网络如何利用基因组学来探究撒哈拉以南非洲地区对艾滋病毒进展以及艾滋病毒与结核病合并感染至关重要的宿主遗传因素。H3Africa旨在促进基因组学技术的应用，以改善整个非洲的健康状况。 是一个H3Africa合作中心，汇集了博茨瓦纳大学、马凯雷雷大学、博茨瓦纳、乌干达和斯威士兰的贝勒医学院儿童卓越临床中心（COE）以及德克萨斯州贝勒医学院的专业知识。这些卓越临床中心提供社区参与、参与者招募和样本采集的临床专业知识，而三所大学则协助处理和管理基因组样本，并提供基础设施和培训机会，以维持基因组学研究。该项目专注于利用全外显子测序来识别导致儿童极端艾滋病毒疾病进展表型的遗传变异，以及利用RNA测序和综合基因组学来识别艾滋病毒阳性儿童中与结核病进展相关的宿主遗传因素。这些队列是利用卓越临床中心的电子病历建立的，具有非常良好的表型特征，为评估在独特临床病程和疾病病理生理学背景下通过与成人不同途径感染艾滋病毒的个体中的遗传因素提供了前所未有的机会。我们的方法有望培养出一大批训练有素、技术高超的非洲本土基因组科学家。为确保非洲基因组学研究的长期可持续性， 为非洲大陆广泛的基因组学能力和基础设施发展做出了贡献，为其机构的基因组学研究生项目奠定了基础，并通过与政府和学术界的伙伴关系促成的创新社区参与形式，继续积极推动基因组学研究，以支持基因组学政策制定。
