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A brief history of human disease genetics

Author

Listed:
  • Melina Claussnitzer

    (Harvard Medical School
    Broad Institute of MIT and Harvard Cambridge
    University of Hohenheim)

  • Judy H. Cho

    (Icahn School of Medicine at Mount Sinai
    Icahn School of Medicine at Mount Sinai
    Icahn School of Medicine at Mount Sinai)

  • Rory Collins

    (University of Oxford
    UK Biobank)

  • Nancy J. Cox

    (Vanderbilt University Medical Center)

  • Emmanouil T. Dermitzakis

    (University of Geneva Medical School
    Health 2030 Genome Center)

  • Matthew E. Hurles

    (Wellcome Sanger Institute)

  • Sekar Kathiresan

    (Broad Institute of MIT and Harvard Cambridge
    Massachusetts General Hospital
    Verve Therapeutics)

  • Eimear E. Kenny

    (Icahn School of Medicine at Mount Sinai
    Icahn School of Medicine at Mount Sinai
    Icahn School of Medicine at Mount Sinai)

  • Cecilia M. Lindgren

    (Broad Institute of MIT and Harvard Cambridge
    University of Oxford
    University of Oxford)

  • Daniel G. MacArthur

    (Broad Institute of MIT and Harvard Cambridge
    Massachusetts General Hospital
    Massachusetts General Hospital)

  • Kathryn N. North

    (Murdoch Children’s Research Institute
    University of Melbourne)

  • Sharon E. Plon

    (Baylor College of Medicine
    Texas Children’s Hospital)

  • Heidi L. Rehm

    (Broad Institute of MIT and Harvard Cambridge
    Massachusetts General Hospital
    Massachusetts General Hospital
    Harvard Medical School)

  • Neil Risch

    (University of California San Francisco)

  • Charles N. Rotimi

    (National Human Genome Research Institute)

  • Jay Shendure

    (University of Washington
    Magnuson Health Sciences Building
    Howard Hughes Medical Institute)

  • Nicole Soranzo

    (Wellcome Sanger Institute
    University of Cambridge)

  • Mark I. McCarthy

    (University of Oxford
    Endocrinology and Metabolism
    John Radcliffe Hospital
    Human Genetics, Genentech)

Abstract

A primary goal of human genetics is to identify DNA sequence variants that influence biomedical traits, particularly those related to the onset and progression of human disease. Over the past 25 years, progress in realizing this objective has been transformed by advances in technology, foundational genomic resources and analytical tools, and by access to vast amounts of genotype and phenotype data. Genetic discoveries have substantially improved our understanding of the mechanisms responsible for many rare and common diseases and driven development of novel preventative and therapeutic strategies. Medical innovation will increasingly focus on delivering care tailored to individual patterns of genetic predisposition.

Suggested Citation

  • Melina Claussnitzer & Judy H. Cho & Rory Collins & Nancy J. Cox & Emmanouil T. Dermitzakis & Matthew E. Hurles & Sekar Kathiresan & Eimear E. Kenny & Cecilia M. Lindgren & Daniel G. MacArthur & Kathry, 2020. "A brief history of human disease genetics," Nature, Nature, vol. 577(7789), pages 179-189, January.
    • Handle: RePEc:nat:nature:v:577:y:2020:i:7789:d:10.1038_s41586-019-1879-7
    DOI: 10.1038/s41586-019-1879-7
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    Citations

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    Cited by:

    1. Vincent Michaud & Eulalie Lasseaux & David J. Green & Dave T. Gerrard & Claudio Plaisant & Tomas Fitzgerald & Ewan Birney & Benoît Arveiler & Graeme C. Black & Panagiotis I. Sergouniotis, 2022. "The contribution of common regulatory and protein-coding TYR variants to the genetic architecture of albinism," Nature Communications, Nature, vol. 13(1), pages 1-8, December.
    2. Gerard Llimos & Vincent Gardeux & Ute Koch & Judith F. Kribelbauer & Antonina Hafner & Daniel Alpern & Joern Pezoldt & Maria Litovchenko & Julie Russeil & Riccardo Dainese & Riccardo Moia & Abdurraouf, 2022. "A leukemia-protective germline variant mediates chromatin module formation via transcription factor nucleation," Nature Communications, Nature, vol. 13(1), pages 1-21, December.
    3. Ting Fu & Kofi Amoah & Tracey W. Chan & Jae Hoon Bahn & Jae-Hyung Lee & Sari Terrazas & Rockie Chong & Sriram Kosuri & Xinshu Xiao, 2024. "Massively parallel screen uncovers many rare 3′ UTR variants regulating mRNA abundance of cancer driver genes," Nature Communications, Nature, vol. 15(1), pages 1-20, December.
    4. Shufen Zheng & Philip S. Tsao & Cuiping Pan, 2024. "Abdominal aortic aneurysm and cardiometabolic traits share strong genetic susceptibility to lipid metabolism and inflammation," Nature Communications, Nature, vol. 15(1), pages 1-14, December.
    5. Atlas Khan & Ning Shang & Jordan G. Nestor & Chunhua Weng & George Hripcsak & Peter C. Harris & Ali G. Gharavi & Krzysztof Kiryluk, 2023. "Polygenic risk alters the penetrance of monogenic kidney disease," Nature Communications, Nature, vol. 14(1), pages 1-10, December.
    6. Fang Liang & Yu Zhang & Lin Li & Yexin Yang & Ji-Feng Fei & Yanmei Liu & Wei Qin, 2022. "SpG and SpRY variants expand the CRISPR toolbox for genome editing in zebrafish," Nature Communications, Nature, vol. 13(1), pages 1-10, December.
    7. Feng Zhou & Opeyemi Soremekun & Tinashe Chikowore & Segun Fatumo & Inês Barroso & Andrew P. Morris & Jennifer L. Asimit, 2023. "Leveraging information between multiple population groups and traits improves fine-mapping resolution," Nature Communications, Nature, vol. 14(1), pages 1-12, December.
    8. Alan Selewa & Kaixuan Luo & Michael Wasney & Linsin Smith & Xiaotong Sun & Chenwei Tang & Heather Eckart & Ivan P. Moskowitz & Anindita Basu & Xin He & Sebastian Pott, 2023. "Single-cell genomics improves the discovery of risk variants and genes of atrial fibrillation," Nature Communications, Nature, vol. 14(1), pages 1-18, December.

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