Genomics of rare diseases in the Greater Middle East

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

doi:10.1038/s41588-025-02075-8

Genomics of rare diseases in the Greater Middle East

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^*

^*Corresponding author for this work

Research output: Contribution to journal › Article › peer-review

Abstract

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.

Original language	English (US)
Article number	5929
Pages (from-to)	505-514
Number of pages	10
Journal	Nature Genetics
Volume	57
Issue number	3
DOIs	https://doi.org/10.1038/s41588-025-02075-8
State	Published - Mar 2025

Bibliographical note

Publisher Copyright:
© Springer Nature America, Inc. 2025.

ASJC Scopus subject areas

Genetics

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

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10.1038/s41588-025-02075-8

Cite this

Chekroun, I., Shenbagam, S., Almarri, M. A., Mokrab, Y., Uddin, M., Alkhnbashi, O. S., Zaki, M. S., Najmabadi, H., Kahrizi, K., Fakhro, K. A., Almontashiri, N. A. M., Ali, F. R., Özbek, U., Reversade, B., Alkuraya, F. S., Alsheikh-Ali, A., & Abou Tayoun, A. N. (2025). Genomics of rare diseases in the Greater Middle East. Nature Genetics, 57(3), 505-514. Article 5929. https://doi.org/10.1038/s41588-025-02075-8

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abstract = "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{\textquoteright}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.",

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Chekroun, I, Shenbagam, S, Almarri, MA, Mokrab, Y, Uddin, M, Alkhnbashi, OS, Zaki, MS, Najmabadi, H, Kahrizi, K, Fakhro, KA, Almontashiri, NAM, Ali, FR, Özbek, U, Reversade, B, Alkuraya, FS, Alsheikh-Ali, A & Abou Tayoun, AN 2025, 'Genomics of rare diseases in the Greater Middle East', Nature Genetics, vol. 57, no. 3, 5929, pp. 505-514. https://doi.org/10.1038/s41588-025-02075-8

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AU - Chekroun, Ikram

AU - Shenbagam, Shruti

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AU - Alkhnbashi, Omer S.

AU - Zaki, Maha S.

AU - Najmabadi, Hossein

AU - Kahrizi, Kimia

AU - Fakhro, Khalid A.

AU - Almontashiri, Naif A.M.

AU - Ali, Fahad R.

AU - Özbek, Uğur

AU - Reversade, Bruno

AU - Alkuraya, Fowzan S.

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Genomics of rare diseases in the Greater Middle East

Abstract

Bibliographical note

ASJC Scopus subject areas

UN SDGs

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