Scholarlink

<p>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.</p>

错误：搜索内容不能为空，请输入英文关键词
错误：关键词超出字数限制，请精简
高级检索

Genomics of rare diseases in the Greater Middle East

  • 期刊论文

  • 发表日期：

    2025年2月3日

查看全文
  • Ikram Chekroun,
  • Shruti Shenbagam,
  • Mohamed A. Almarri,
  • Younes Mokrab,
  • Mohammed Uddin,
  • Omer S. Alkhnbashi,
  • Maha S. Zaki,
  • Hossein Najmabadi,
  • Kimia Kahrizi,
  • Khalid A. Fakhro,
  • Naif A. M. Almontashiri,
  • Fahad R. Ali,
  • Uğur Özbek,
  • Bruno Reversade,
  • Fowzan S. Alkuraya,
  • Alawi Alsheikh-Ali,
  • Ahmad N. Abou Tayoun

摘要

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.