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Genomics of rare diseases in the Greater Middle East.

Nature genetics - 1 Mar 2025

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

Abstract excerpt

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...

Topics

Humans
Middle East
Genomics
Rare Diseases
Genome, Human
Genetic Variation
Consanguinity

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 39901015
DOI: 10.1038/s41588-025-02075-8

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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