How the human genome transformed study of rare diseases

Alkuraya, Fowzan S.

doi:10.1038/d41586-021-00294-7

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10 February 2021

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.

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Fowzan S. Alkuraya⁰

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

References

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[1] International Human Genome Sequencing Consortium. Nature 409, 860–921 (2001).
Article PubMed Google Scholar

[2] Venter, J. C. et al. Science 291, 1304–1351 (2001).
Article PubMed Google Scholar

[3] Collins, F. S. & McKusick, V. A. J. Am. Med. Assoc. 285, 540–544 (2001).
Article Google Scholar

[4] Chong, J. X. et al. Am. J. Hum. Genet. 97, 199–215 (2015).
Article PubMed Google Scholar

[5] Donis-Keller, H. et al. Cell 51, 319–337 (1987).
Article PubMed Google Scholar

[6] Kalia, S. S. et al. Genet. Med. 19, 249–255 (2017).
Article PubMed Google Scholar

[7] Van Hout, C. V. et al. Nature 586, 749–756 (2020).
Article PubMed Google Scholar

[8] Buchanan, A. H. et al. Genet. Med. 22, 1874–1882 (2020).
Article PubMed Google Scholar

[9] Antonarakis, S. E. Nature Rev. Genet. 20, 549–561 (2019).
Article PubMed Google Scholar

[10] Abouelhoda, M. et al. Genet. Med. 18, 1244–1249 (2016).
Article PubMed Google Scholar

[11] Monies, D. et al. Am. J. Hum. Genet. 104, 1182–1201 (2019).
Article PubMed Google Scholar

[12] Freund, M. K. et al. Am. J. Hum. Genet. 103, 535–552 (2018).
Article PubMed Google Scholar

[13] Szustakowski, J. D. et al. Preprint at medRxiv https://doi.org/10.1101/2020.11.02.20222232 (2020).

[14] Joyner, M. J. & Paneth, N. J. Clin. Invest. 129, 946–948 (2019).
Article PubMed Google Scholar

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