Chekroun Ikram, Shenbagam Shruti, Almarri Mohamed A, Mokrab Younes, Uddin Mohammed, Alkhnbashi Omer S, Zaki Maha S, Najmabadi Hossein, Kahrizi Kimia, Fakhro Khalid A, Almontashiri Naif A M, Ali Fahad R, Özbek Uğur, Reversade Bruno, Alkuraya Fowzan S, Alsheikh-Ali Alawi, Abou Tayoun Ahmad N
College of Medicine, Mohammed Bin Rashid University of Medicine and Health Sciences, Dubai Health, Dubai, UAE.
Al Jalila Genomics Center of Excellence, Al Jalila Children's Specialty Hospital, Dubai, UAE.
Nat Genet. 2025 Mar;57(3):505-514. doi: 10.1038/s41588-025-02075-8. Epub 2025 Feb 3.
The Greater Middle East (GME) represents a concentrated region of unparalleled genetic diversity, characterized by an abundance of distinct alleles, founder mutations and extensive autozygosity driven by high consanguinity rates. These genetic hallmarks present a unique, yet vastly untapped resource for genomic research on Mendelian diseases. Despite this immense potential, the GME continues to face substantial challenges in comprehensive data collection and analysis. This Perspective highlights the region's unique position as a natural laboratory for genetic discovery and explores the challenges that have stifled progress thus far. Importantly, we propose strategic solutions, advocating for an all-inclusive research approach. With targeted investment and focused efforts, the latent genetic wealth in the GME can be transformed into a global hub for genomic research that will redefine and advance our understanding of the human genome.
大中东地区（GME）是一个遗传多样性无与伦比的集中区域，其特点是存在大量独特的等位基因、奠基者突变以及由高近亲结婚率导致的广泛纯合性。这些遗传特征为孟德尔疾病的基因组研究提供了独特但尚未充分开发的资源。尽管具有巨大潜力，但大中东地区在全面数据收集和分析方面仍面临重大挑战。本观点文章强调了该地区作为遗传发现天然实验室的独特地位，并探讨了迄今为止阻碍进展的挑战。重要的是，我们提出了战略解决方案，倡导采取全面包容的研究方法。通过有针对性的投资和集中努力，大中东地区潜在的遗传财富可转化为基因组研究的全球中心，从而重新定义并推进我们对人类基因组的理解。
