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How the human genome transformed study of rare diseases

Mendelian diseases are caused by mutations in a single gene. The first draft of the human genome, published in 2001, had broad implications for how these diseases are diagnosed, managed and prevented.
  1. Fowzan S. Alkuraya

    1. Fowzan S. Alkuraya is in the Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia.

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When the first draft of the human genome was published1,2, it was expected to have a transformative impact on medicine. Bold predictions were made about a paradigm shift in which medicine became personalized, predictive and preventive3. To many, no such transformation materialized, probably because of a focus on common diseases such as diabetes and coronary artery disease. But the predictions were right on target for Mendelian diseases — those caused by mutations in single genes — such as hereditary cancers and many forms of developmental delay in children.

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Nature 590, 218-219 (2021)

doi: https://doi.org/10.1038/d41586-021-00294-7

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