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 and Mark I. McCarthy ()
Additional contact information
Melina Claussnitzer: Harvard Medical School
Judy H. Cho: Icahn School of Medicine at Mount Sinai
Rory Collins: University of Oxford
Nancy J. Cox: Vanderbilt University Medical Center
Emmanouil T. Dermitzakis: University of Geneva Medical School
Matthew E. Hurles: Wellcome Sanger Institute
Sekar Kathiresan: Broad Institute of MIT and Harvard Cambridge
Eimear E. Kenny: Icahn School of Medicine at Mount Sinai
Cecilia M. Lindgren: Broad Institute of MIT and Harvard Cambridge
Daniel G. MacArthur: Broad Institute of MIT and Harvard Cambridge
Kathryn N. North: Murdoch Children’s Research Institute
Sharon E. Plon: Baylor College of Medicine
Heidi L. Rehm: Broad Institute of MIT and Harvard Cambridge
Neil Risch: University of California San Francisco
Charles N. Rotimi: National Human Genome Research Institute
Jay Shendure: University of Washington
Nicole Soranzo: Wellcome Sanger Institute
Mark I. McCarthy: University of Oxford

Nature, 2020, vol. 577, issue 7789, 179-189

Abstract: 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.

Date: 2020
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DOI: 10.1038/s41586-019-1879-7

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