Rare versus common diseases: a false dichotomy in precision medicine

Abstract Precision medicine initiatives are being launched worldwide, each with the capacity to sequence many thousands to millions of human genomes. At the strategic planning level, all are debating the extent to which these resources will be directed towards rare diseases (and cancers) versus comm...

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Autores principales:	Brian Hon Yin Chung, Jeffrey Fong Ting Chau, Gane Ka-Shu Wong
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2021
Materias:	Medicine R Genetics QH426-470
Acceso en línea:	https://doaj.org/article/3ca45e3c8a6448cdb0b7af16aa613949
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spelling	oai:doaj.org-article:3ca45e3c8a6448cdb0b7af16aa6139492021-12-02T11:35:42ZRare versus common diseases: a false dichotomy in precision medicine10.1038/s41525-021-00176-x2056-7944https://doaj.org/article/3ca45e3c8a6448cdb0b7af16aa6139492021-02-01T00:00:00Zhttps://doi.org/10.1038/s41525-021-00176-xhttps://doaj.org/toc/2056-7944Abstract Precision medicine initiatives are being launched worldwide, each with the capacity to sequence many thousands to millions of human genomes. At the strategic planning level, all are debating the extent to which these resources will be directed towards rare diseases (and cancers) versus common diseases. However, these are not mutually exclusive choices. The organizational and governmental infrastructure created for rare diseases is extensible to common diseases. As we will explain, the underlying technology can also be used to identify drug targets for common diseases with a strategy focused on naturally occurring human knockouts. This flips on its head the prevailing modus operandi of studying people with diseases of interest, shifting the onus to defining traits worth emulating by pharmaceuticals, and searching phenotypically for people with these traits. This also shifts the question of what is rare or common from the many underlying causes to the possibility of a common final pathway.Brian Hon Yin ChungJeffrey Fong Ting ChauGane Ka-Shu WongNature PortfolioarticleMedicineRGeneticsQH426-470ENnpj Genomic Medicine, Vol 6, Iss 1, Pp 1-5 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Medicine R Genetics QH426-470
spellingShingle	Medicine R Genetics QH426-470 Brian Hon Yin Chung Jeffrey Fong Ting Chau Gane Ka-Shu Wong Rare versus common diseases: a false dichotomy in precision medicine
description	Abstract Precision medicine initiatives are being launched worldwide, each with the capacity to sequence many thousands to millions of human genomes. At the strategic planning level, all are debating the extent to which these resources will be directed towards rare diseases (and cancers) versus common diseases. However, these are not mutually exclusive choices. The organizational and governmental infrastructure created for rare diseases is extensible to common diseases. As we will explain, the underlying technology can also be used to identify drug targets for common diseases with a strategy focused on naturally occurring human knockouts. This flips on its head the prevailing modus operandi of studying people with diseases of interest, shifting the onus to defining traits worth emulating by pharmaceuticals, and searching phenotypically for people with these traits. This also shifts the question of what is rare or common from the many underlying causes to the possibility of a common final pathway.
format	article
author	Brian Hon Yin Chung Jeffrey Fong Ting Chau Gane Ka-Shu Wong
author_facet	Brian Hon Yin Chung Jeffrey Fong Ting Chau Gane Ka-Shu Wong
author_sort	Brian Hon Yin Chung
title	Rare versus common diseases: a false dichotomy in precision medicine
title_short	Rare versus common diseases: a false dichotomy in precision medicine
title_full	Rare versus common diseases: a false dichotomy in precision medicine
title_fullStr	Rare versus common diseases: a false dichotomy in precision medicine
title_full_unstemmed	Rare versus common diseases: a false dichotomy in precision medicine
title_sort	rare versus common diseases: a false dichotomy in precision medicine
publisher	Nature Portfolio
publishDate	2021
url	https://doaj.org/article/3ca45e3c8a6448cdb0b7af16aa613949
work_keys_str_mv	AT brianhonyinchung rareversuscommondiseasesafalsedichotomyinprecisionmedicine AT jeffreyfongtingchau rareversuscommondiseasesafalsedichotomyinprecisionmedicine AT ganekashuwong rareversuscommondiseasesafalsedichotomyinprecisionmedicine
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Rare versus common diseases: a false dichotomy in precision medicine

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