Sources and References: Sidra Medicine
Sidra Medicine, a member of Qatar Foundation, has announced a major genomic research development with the creation of the Middle East’s first population-scale atlas revealing how genetic variations influence gene activity and contribute to health conditions. The research provides new insights into genome regulation and could support advances in precision medicine for Arab populations.
Published in Nature Genetics, the study analysed data from nearly 2,000 Qatar Biobank participants, combining whole-genome sequencing, blood transcriptome data and clinical information. Researchers identified nearly 30,000 causal effects influencing gene regulation and linked them to 20 clinical traits and disease pathways, including immune and metabolic functions.
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The findings also shed light on how consanguinity, or marriage between biologically related individuals, can influence gene activity beyond its established association with inherited genetic disorders.
Prof. Younes Mokrab said: “The genome is the body’s genetic blueprint, while the blood transcriptome shows that blueprint in action. Using a population-level cohort from QBB, we brought these layers together with clinical information. Leveraging advanced analytics, we moved beyond genetic associations to uncover causal effects on gene regulation and health at a genome-wide scale. This is particularly important for Middle Eastern populations.”
The dataset will also contribute to future artificial intelligence and machine learning research by providing a foundation for more accurate disease prediction and treatment discovery.
Supported by Sidra Medicine and the Qatar National Research Fund, the study represents an important step towards developing population-specific genomic resources and advancing personalised healthcare across the region.
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First author Dr. Haroon Naeem, Staff Scientist in the Genome and Biomedicine Informatics Laboratory, said: “We leveraged the high levels of consanguinity in our study cohort to gain novel insights into the impact of inbreeding on gene regulation, revealing effects that extend beyond its established role in recessive genetic disease.”
Prof. Khalid Fakhro, Chief Research Officer at Sidra Medicine, said: “Precision medicine relies heavily on population-matched reference databases, and this study builds exactly that for RNA data, to complement the extensive DNA resources we have built for Qatar and the Middle East over the years. Building such resources requires deep expertise and world class core facilities, and creates a foundation for personalized healthcare for our populations.”
