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非洲的神经基因组学:观点、进展、可能性与优先事项。

Neurogenomics in Africa: Perspectives, progress, possibilities and priorities.

作者信息

Akinyemi Rufus O, Owolabi Mayowa O, Oyeniyi Tolulope, Ovbiagele Bruce, Arnett Donna K, Tiwari Hemant K, Walker Richard, Ogunniyi Adesola, Kalaria Raj N

机构信息

Institute for Advanced Medical Research and Training, College of Medicine, University of Ibadan, Nigeria; Institute of Neuroscience, Newcastle University, UK.

Department of Medicine, College of Medicine, University of Ibadan, Nigeria.

出版信息

J Neurol Sci. 2016 Jul 15;366:213-223. doi: 10.1016/j.jns.2016.05.006. Epub 2016 May 6.

Abstract

The understanding of the genetic basis of neurological disorders has grown rapidly in the last two decades. Despite the genomic heterogeneity within African populations, large-scale candidate gene or linkage and exome studies are lacking. However, current knowledge on neurogenetics in African populations is limited and geographically very uneven. Isolated reports indicate the existence of autosomal dominant or recessive conditions incorporating cerebrovascular, movement, neuromuscular, seizure and motor neuron disorders in Africans. In addition, few African families with neurodegenerative disorders associated with dementia have been characterized in North, West and South Africa. The current insurgency in genomic research triggered by among others the Human Health and Heredity (H3) Africa Initiative indicates that there are unique opportunities to advance our knowledge and understanding of the influence of genomic variation on the pattern, presentations and prognosis of neurological disorders in Africa. These have enormous potential to unmask novel genes and molecular pathways germane to the neurobiology of brain disorders. It would facilitate the development of novel diagnostics, preventative and targeted treatments in the new paradigm of precision medicine. Nevertheless, it is crucial to strike a balance between effective traditional public health strategies and personalized genome based care. The translational barriers can be overcome through robust stakeholder engagement and sustainable multilevel, multigenerational and multidisciplinary capacity building and infrastructural development for genomic medicine in Africa.

摘要

在过去二十年中,对神经系统疾病遗传基础的认识迅速增长。尽管非洲人群存在基因组异质性,但缺乏大规模的候选基因、连锁和外显子组研究。然而,目前关于非洲人群神经遗传学的知识有限,且在地理上分布极不均衡。个别报告表明,非洲人存在常染色体显性或隐性疾病,包括脑血管疾病、运动障碍、神经肌肉疾病、癫痫和运动神经元疾病。此外,在非洲北部、西部和南部,仅有少数患有与痴呆症相关的神经退行性疾病的非洲家庭得到了特征描述。当前由人类健康与遗传(H3)非洲倡议等引发的基因组研究热潮表明,存在独特的机会来增进我们对基因组变异对非洲神经系统疾病的模式、表现和预后影响的认识和理解。这些机会对于揭示与脑部疾病神经生物学相关的新基因和分子途径具有巨大潜力。这将有助于在精准医学的新范式中开发新的诊断方法、预防措施和靶向治疗。然而,在有效的传统公共卫生策略与基于个性化基因组的护理之间取得平衡至关重要。通过强大的利益相关者参与以及为非洲基因组医学进行可持续的多层次、多代际和多学科能力建设与基础设施发展,可以克服转化障碍。

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