{
  "id": 18283148,
  "title": "Sidra Medicine pulls off breakthrough with ME atlas on genome regulation",
  "url": "https://urgent.news/2026/11/04/sidra-medicine-pulls-off-breakthrough-with-me-atlas-on-genome",
  "topic": "science",
  "section": "Science",
  "published": "2026-11-04T21:00:00.000Z",
  "source": {
    "name": "Gulf Times",
    "slug": "gulf-times",
    "url": "https://www.gulf-times.com/article/737563/qatar/sidra-medicine-pulls-off-breakthrough-with-me-atlas-on-genome-regulation"
  },
  "original_language": "en",
  "account": "Sidra Medicine, a member of Qatar Foundation, has developed the Middle East's inaugural population-scale atlas demonstrating how genetic variations influence gene activity in blood and its correlation to clinical traits. This groundbreaking study, titled \"A catalogue of transcriptome genetic regulation in a consanguineous Middle Eastern biobank\" and published in Nature Genetics, offers a valuable resource to refine precision medicine and tackle a crucial gap in global genomics. By enabling more exact genetic diagnoses, disease-risk prediction, and the discovery of new biomarkers and therapeutic targets, the research paves the way for personalized healthcare advancements.\n\nLed by Professor Younes Mokrab, principal investigator in Genome and Biomedicine Informatics and Director of the Neuroscience Research Programme, and Dr Haroon Naeem, staff scientist and first author, the research team analyzed data from nearly 2,000 Qatar Biobank participants. By merging whole-genome sequencing, whole-blood transcriptomics, and additional information, they examined the genome-wide effects of DNA-level variations on gene regulation and their connection to health and diseases.\n\nThe study's innovative approach goes beyond traditional associations, applying advanced computational techniques to uncover around 30,000 \"causal\" effects that regulate genome transcription. These findings link to 20 clinical traits and disease pathways, especially those associated with metabolic function. Professor Mokrab emphasized, \"The genome represents the body's genetic blueprint, while the blood transcriptome illustrates that blueprint's execution. By harmonizing data from our QBB cohort with clinical information, we were able to surpass genetic links and identify causal impacts on gene regulation and health on a genome-wide scale.\"\n\nMoreover, the research shed light on the often-overlooked effect of consanguinity on gene activity. Consanguinity increases the likelihood of inheriting two copies of the same genetic variant, typically linked to rare genetic diseases. The team demonstrated that inheriting two copies of specific regulatory variants can lead to extraordinary increases or decreases in gene activity, extending the biological consequences of consanguinity beyond variants directly altering proteins. Dr Naeem explained, \"By harnessing the high levels of consanguinity in our study cohort, we gained novel insights into the impact of inbreeding on gene regulation, revealing effects that extend beyond the established role of consanguinity in recessive genetic diseases.\"\n\nThe research marks a significant achievement in refining the interpretation of genomic test results, enhancing the yield of genetic diagnoses through improved annotation of non-coding variants, and developing ancestry-aware, functionally-informed polygenic scores for better risk assessment of complex diseases and more effective clinical trials. Professor Khalid Fakhro, chief research officer at Sidra Medicine, highlighted the importance of this study, stating, \"Precision medicine relies heavily on population-matched reference databases, and this study establishes exactly that for RNA data, complementing the extensive DNA resources we have developed for Qatar and the Middle East. By constructing such resources, we are laying the foundation for personalized healthcare in our populations.\"",
  "summary": "Researchers at Sidra Medicine, a member of Qatar Foundation, have created the Middle East’s first population-scale atlas showing how genetic variation regulates gene activity in blood and tracing its...",
  "key_points": [],
  "editors_take": null,
  "illustration": null,
  "coverage": {
    "outlets": 2,
    "also_reported_by": [
      {
        "outlet": "The Peninsula Qatar",
        "title": "Sidra Medicine establishes Middle East’s first atlas of DNA variants shaping genome regulation",
        "url": "https://urgent.news/2026/11/04/sidra-medicine-establishes-middle-easts-first-atlas-of-dna-variants",
        "published": "2026-11-04T10:03:05.000Z"
      }
    ]
  },
  "ai_generated": true,
  "disclaimer": "Summaries, key points and the editor’s take are written by software from other outlets’ reporting and may contain errors — always check the linked original."
}