Journal article

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

NATURE | NATURE RESEARCH | Published : 2020


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 o..

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Awarded by NHMRC

Awarded by Wellcome

Funding Acknowledgements

We acknowledge grant funding from the following funders. J.H.C.: NIH (U01DK062429, U01DK062422 and R01DK106593); N.J.C.: NIH (U01HG009086, U54MD010722 and R01MH113362); E.T.D.: Swiss National Science Foundation, Louis Jeantet Foundation; E.E.K.: NIH (R01HG010297, R01HL104608, U01HG009610, R01DK110113, U01HG009080, X01HL1345 and UM1HG0089001); C.M.L.: NIHR Oxford Biomedical Research Centre and NIH (5P50HD028138-27); K.N.N.: NHMRC (APP1113531); S.E.P.: NIH (U01HG006485 and 1U41HG009649); C.N.R.: NIH Intramural Program at the Center for Research on Genomics and Global Health and National Human Genome Research Institute; and M.I.M.: Wellcome (090532, 098381, 106130, 203141 and 212259) and NIH (U01-DK105535, DK085545 and DK098032). Personal funding comes from the following sources. M.C.: Next Generation Fund at the Broad Institute of MIT and Harvard; J.H.C.: Sanford Grossman Charitable Trust and Helmsley Charitable Trust; R.C.: UKBiobank; C.M.L.: Li Ka Shing Foundation; J.S.: Howard Hughes Medical Institute; and M.I.M.: Wellcome and NIHR.