A brief history of human disease genetics

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; Kathryn N North; Sharon E Plon; Heidi L Rehm; Neil Risch; Charles N Rotimi; Jay Shendure; Nicole Soranzo; Mark I McCarthy

doi:10.1038/s41586-019-1879-7

A brief history of human disease genetics

Nature. 2020 Jan;577(7789):179-189. doi: 10.1038/s41586-019-1879-7. Epub 2020 Jan 8.

Authors

Melina Claussnitzer^{1

2

3}, Judy H Cho^{4

5

6}, Rory Collins^{7

8}, Nancy J Cox⁹, Emmanouil T Dermitzakis^{10

11}, Matthew E Hurles¹², Sekar Kathiresan^{2

13

14}, Eimear E Kenny^{4

6

15}, Cecilia M Lindgren^{2

16

17}, Daniel G MacArthur^{2

13

18}, Kathryn N North^{19

20}, Sharon E Plon^{21

22}, Heidi L Rehm^{2

13

18

23}, Neil Risch²⁴, Charles N Rotimi²⁵, Jay Shendure^{26

27

28}, Nicole Soranzo^{12

29}, Mark I McCarthy^{30

31

32

33}

Affiliations

¹ Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, MA, USA.
² Broad Institute of MIT and Harvard Cambridge, Cambridge, MA, USA.
³ Institute of Nutritional Science, University of Hohenheim, Stuttgart, Germany.
⁴ Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
⁵ Department of Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
⁶ Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
⁷ Nuffield Department of Population Health (NDPH), University of Oxford, Oxford, UK.
⁸ UK Biobank, Stockport, UK.
⁹ Vanderbilt Genetics Institute and Division of Genetic Medicine, Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.
¹⁰ Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva, Switzerland.
¹¹ Health 2030 Genome Center, Geneva, Switzerland.
¹² Wellcome Sanger Institute, Hinxton, UK.
¹³ Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.
¹⁴ Verve Therapeutics, Cambridge, MA, USA.
¹⁵ Center for Genomic Health, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
¹⁶ Big Data Institute at the Li Ka Shing Centre for Health Information and Discovery, University of Oxford, Oxford, UK.
¹⁷ Wellcome Centre for Human Genetics, Nuffield Department of Medicine, University of Oxford, Oxford, UK.
¹⁸ Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.
¹⁹ Murdoch Children's Research Institute, Parkville, Victoria, Australia.
²⁰ University of Melbourne, Parkville, Victoria, Australia.
²¹ Departments of Pediatrics and Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
²² Texas Children's Cancer Center, Texas Children's Hospital, Houston, TX, USA.
²³ Department of Pathology, Harvard Medical School, Boston, MA, USA.
²⁴ Institute for Human Genetics, University of California San Francisco, San Francisco, CA, USA.
²⁵ Center for Research on Genomics and Global Health, National Human Genome Research Institute, Bethesda, MD, USA.
²⁶ Department of Genome Sciences, University of Washington, Seattle, WA, USA.
²⁷ Brotman Baty Institute for Precision Medicine, Magnuson Health Sciences Building, Seattle, WA, USA.
²⁸ Howard Hughes Medical Institute, Seattle, WA, USA.
²⁹ Department of Haematology, University of Cambridge, Cambridge, UK.
³⁰ Wellcome Centre for Human Genetics, Nuffield Department of Medicine, University of Oxford, Oxford, UK. mccarthy.mark@gene.com.
³¹ Oxford Centre for Diabetes, Endocrinology and Metabolism, Oxford, UK. mccarthy.mark@gene.com.
³² Oxford NIHR Biomedical Research Centre, Oxford University Hospitals NHS Foundation Trust, John Radcliffe Hospital, Oxford, UK. mccarthy.mark@gene.com.
³³ Human Genetics, Genentech, South San Francisco, CA, USA. mccarthy.mark@gene.com.

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.

Publication types

Research Support, N.I.H., Extramural
Research Support, N.I.H., Intramural
Research Support, Non-U.S. Gov't
Review

MeSH terms

Animals
Genetic Testing
Genetic Variation*
Genomics
Genotype
Humans
Phenotype
Rare Diseases / genetics

Abstract

Publication types

MeSH terms

Grants and funding