Faculty Publications (CoM)

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Browsing Faculty Publications (CoM) by Author "Abou Tayoun, Ahmad N"

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    Genomics of rare diseases in the Greater Middle East.
    (2025-02-03) Chekroun, Ikram; Almarri, Mohamed A; Uddin, Mohammed; Alkhnbashi, Omer S; Ali, Fahad R; Alsheikh-Ali, Alawi; Abou Tayoun, Ahmad N
    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.
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    The WHO genomics program of work for equitable implementation of human genomics for global health.
    (2024-10) Abou Tayoun, Ahmad N
    The publication of the first draft of the human genome sequence in 2001 was followed by the advent of high-throughput methodologies, which together have driven the expansion of genomic tools and technologies. These efforts have enabled the sequencing of millions of genomes and expedited the functional and clinical annotation of the human genome. The resulting discovery of thousands of gene–disease associations and the characterization of human genetic variation at scale has extended the application of genomics to enable diagnosis, prognosis and clinical management of disease, as well as risk prediction and implementation of preventive measures.