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埃及基因组:迈向非洲新的基因组时代。

Egypt Genome: Towards an African new genomic era.

作者信息

Amer Khaled, Soliman Neveen A, Soror Sameh, Gad Yehia Z, Moustafa Ahmed, Elmonem Mohamed A, Amer May, Ragheb Ameera, Kotb Amira, Taha Tarek, Ali Wael, Sakr Mahmoud, Ghaffar Khaled Abdel

机构信息

Egypt Center for Research and Regenerative Medicine (ECRRM), Cairo, Egypt.

Egypt Center for Research and Regenerative Medicine (ECRRM), Cairo, Egypt; Department of Pediatrics, Center of Pediatric Nephrology and Transplantation, Faculty of Medicine, Cairo University, Cairo, Egypt.

出版信息

J Adv Res. 2025 May;71:415-427. doi: 10.1016/j.jare.2024.06.003. Epub 2024 Jun 4.

DOI:10.1016/j.jare.2024.06.003
PMID:38844121
Abstract

BACKGROUND

Studying the human genome is crucial to embrace precision medicine through tailoring treatment and prevention strategies to the unique genetic makeup and molecular information of individuals. After human genome project (1990-2003) generated the first full sequence of a human genome, there have been concerns towards Northern bias due to underrepresentation of other populations. Multiple countries have now established national genome projects aiming at the genomic knowledge that can be harnessed from their populations, which in turn can serve as a basis for their health care policies in the near future.

AIM OF REVIEW

The intention is to introduce the recently established Egypt Genome (EG) to delineate the genomics and genetics of both the modern and Ancient Egyptian populations. Leveraging genomic medicine to improve precision medicine strategies while building a solid foundation for large-scale genomic research capacity is the fundamental focus of EG.

KEY SCIENTIFIC CONCEPTS

EG generated genomic knowledge is predicted to enrich the existing human genome and to expand its diversity by studying the underrepresented African/Middle Eastern populations. The insightful impact of EG goes beyond Egypt and Africa as it fills the knowledge gaps in health and disease genomics towards improved and sustainable genomic-driven healthcare systems for better outcomes. Promoting the integration of genomics into clinical practice and spearheading the implementation of genomic-driven healthcare and precision medicine is therefore a key focus of EG. Mining into the wealth of Ancient Egyptian Genomics to delineate the genetic bridge between the contemporary and Ancient Egyptian populations is another excitingly unique area of EG to realize the global vision of human genome.

摘要

背景

通过根据个体独特的基因构成和分子信息量身定制治疗和预防策略,研究人类基因组对于实现精准医学至关重要。人类基因组计划(1990 - 2003年)生成了人类基因组的首个完整序列后,人们开始担心由于其他人群代表性不足而导致的北方偏差。现在,多个国家已经建立了国家基因组计划,旨在获取可从其本国人群中获得的基因组知识,这反过来又可在不久的将来作为其医疗保健政策的基础。

综述目的

目的是介绍最近建立的埃及基因组计划(EG),以描绘现代和古埃及人群的基因组学和遗传学特征。利用基因组医学改善精准医学策略,同时为大规模基因组研究能力奠定坚实基础,是EG的根本重点。

关键科学概念

预计EG生成的基因组知识将通过研究代表性不足的非洲/中东人群来丰富现有的人类基因组并扩大其多样性。EG的深刻影响不仅限于埃及和非洲,因为它填补了健康和疾病基因组学方面的知识空白,以建立更完善、可持续的基因组驱动医疗系统,从而取得更好的成果。因此,促进基因组学融入临床实践并率先实施基因组驱动的医疗保健和精准医学是EG的一个关键重点。挖掘古埃及基因组学的丰富资源,以描绘当代和古埃及人群之间的基因桥梁,是EG另一个令人兴奋的独特领域,以实现人类基因组的全球愿景。

相似文献

1
Egypt Genome: Towards an African new genomic era.埃及基因组:迈向非洲新的基因组时代。
J Adv Res. 2025 May;71:415-427. doi: 10.1016/j.jare.2024.06.003. Epub 2024 Jun 4.
2
Genomics in Egypt: Current Status and Future Aspects.埃及的基因组学:现状与未来展望
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Tracing the route of modern humans out of Africa by using 225 human genome sequences from Ethiopians and Egyptians.通过使用来自埃塞俄比亚人和埃及人的225个人类基因组序列来追踪现代人类走出非洲的路线。
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An integrated personal and population-based Egyptian genome reference.一个整合的个人和基于人群的埃及基因组参考。
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Roadmap for Establishing Large-Scale Genomic Medicine Initiatives in Low- and Middle-Income Countries.建立中低收入国家大规模基因组医学计划的路线图。
Am J Hum Genet. 2020 Oct 1;107(4):589-595. doi: 10.1016/j.ajhg.2020.08.005.

本文引用的文献

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Population structure analysis and genome-wide association study of a hexaploid oat landrace and cultivar collection.六倍体燕麦地方品种和栽培品种群体的群体结构分析及全基因组关联研究
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