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Article: Rare versus common diseases: a false dichotomy in precision medicine

TitleRare versus common diseases: a false dichotomy in precision medicine
Authors
Issue Date2021
PublisherNature Research: Fully open access journals. The Journal's web site is located at http://www.nature.com/npjgenmed/
Citation
npj Genomic Medicine, 2021, v. 6 n. 1, p. article no. 19 How to Cite?
AbstractPrecision 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.
Persistent Identifierhttp://hdl.handle.net/10722/301279
ISSN
2019 Impact Factor: 5.631
2020 SCImago Journal Rankings: 2.641
PubMed Central ID

 

DC FieldValueLanguage
dc.contributor.authorChung, BHY-
dc.contributor.authorCHAU, JFT-
dc.contributor.authorWong, GKS-
dc.date.accessioned2021-07-27T08:08:47Z-
dc.date.available2021-07-27T08:08:47Z-
dc.date.issued2021-
dc.identifier.citationnpj Genomic Medicine, 2021, v. 6 n. 1, p. article no. 19-
dc.identifier.issn2056-7944-
dc.identifier.urihttp://hdl.handle.net/10722/301279-
dc.description.abstractPrecision 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.-
dc.languageeng-
dc.publisherNature Research: Fully open access journals. The Journal's web site is located at http://www.nature.com/npjgenmed/-
dc.relation.ispartofnpj Genomic Medicine-
dc.rightsnpj Genomic Medicine. Copyright © Nature Research: Fully open access journals.-
dc.rightsThis work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.-
dc.titleRare versus common diseases: a false dichotomy in precision medicine-
dc.typeArticle-
dc.identifier.emailChung, BHY: bhychung@hku.hk-
dc.identifier.authorityChung, BHY=rp00473-
dc.description.naturepublished_or_final_version-
dc.identifier.doi10.1038/s41525-021-00176-x-
dc.identifier.pmid33627657-
dc.identifier.pmcidPMC7904920-
dc.identifier.scopuseid_2-s2.0-85101766871-
dc.identifier.hkuros323675-
dc.identifier.volume6-
dc.identifier.issue1-
dc.identifier.spagearticle no. 19-
dc.identifier.epagearticle no. 19-
dc.publisher.placeUnited Kingdom-

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