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非洲基因组学研究的五大优先事项:新的前沿领域

Five Priorities of African Genomics Research: The Next Frontier.

作者信息

Wonkam Ambroise, Munung Nchangwi S, Dandara Collet, Esoh Kevin K, Hanchard Neil A, Landoure Guida

机构信息

Division of Human Genetics, Faculty of Health Sciences, University of Cape Town, Cape Town, South Africa; email:

Current affiliation: McKusick-Nathans Institute of Genetic Medicine and Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA; email:

出版信息

Annu Rev Genomics Hum Genet. 2022 Aug 31;23:499-521. doi: 10.1146/annurev-genom-111521-102452. Epub 2022 May 16.

Abstract

To embrace the prospects of accurately diagnosing thousands of monogenic conditions, predicting disease risks for complex traits or diseases, tailoring treatment to individuals' pharmacogenetic profiles, and potentially curing some diseases, research into African genomic variation is a scientific imperative. African genomes harbor millions of uncaptured variants accumulated over 300,000 years of modern humans' evolutionary history, with successive waves of admixture, migration, and natural selection combining with extensive ecological diversity to create a broad and exceptional genomic complexity. Harnessing African genomic complexity, therefore, will require sustained commitment and equitable collaboration from the scientific community and funding agencies. African governments must support academic public research and industrial partnerships that build the necessary genetic medicine workforce, utilize the emerging genomic big data to develop expertise in computer science and bioinformatics, and evolve national and globalgovernance frameworks that recognize the ethical implications of data-driven genomic research and empower its application in African social, cultural, economic, and religious contexts.

摘要

为了迎接准确诊断数千种单基因疾病、预测复杂性状或疾病的患病风险、根据个体药物遗传学特征定制治疗方案以及有可能治愈某些疾病的前景,对非洲基因组变异的研究是一项科学要务。非洲人的基因组包含数百万个在现代人类30万年进化历史中积累的未被发现的变异,连续的混合、迁徙和自然选择浪潮与广泛的生态多样性相结合,创造了广泛而独特的基因组复杂性。因此,利用非洲基因组的复杂性将需要科学界和资助机构持续的投入和公平的合作。非洲各国政府必须支持学术公共研究和产业伙伴关系,这些伙伴关系要培养必要的遗传医学人才队伍,利用新兴的基因组大数据发展计算机科学和生物信息学方面的专业知识,并完善国家和全球治理框架,这些框架要认识到数据驱动的基因组研究的伦理影响,并使其能够在非洲的社会、文化、经济和宗教背景中得到应用。

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