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...
| Main Authors: | , , |
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| Format: | Article |
| Language: | English |
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Nature Portfolio
2021-02-01
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| Series: | npj Genomic Medicine |
| Online Access: | https://doi.org/10.1038/s41525-021-00176-x |
| _version_ | 1818842956559286272 |
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| 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 |
| collection | DOAJ |
| 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. |
| first_indexed | 2024-12-19T04:50:13Z |
| format | Article |
| id | doaj.art-3ca45e3c8a6448cdb0b7af16aa613949 |
| institution | Directory Open Access Journal |
| issn | 2056-7944 |
| language | English |
| last_indexed | 2024-12-19T04:50:13Z |
| publishDate | 2021-02-01 |
| publisher | Nature Portfolio |
| record_format | Article |
| series | npj Genomic Medicine |
| spelling | doaj.art-3ca45e3c8a6448cdb0b7af16aa6139492022-12-21T20:35:22ZengNature Portfolionpj Genomic Medicine2056-79442021-02-01611510.1038/s41525-021-00176-xRare versus common diseases: a false dichotomy in precision medicineBrian Hon Yin Chung0Jeffrey Fong Ting Chau1Gane Ka-Shu Wong2Department of Paediatrics & Adolescent Medicine, Li Ka Shing Faculty of Medicine, The University of Hong KongDepartment of Paediatrics & Adolescent Medicine, Li Ka Shing Faculty of Medicine, The University of Hong KongDepartment of Medicine and Department of Biological Sciences, The University of AlbertaAbstract 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.https://doi.org/10.1038/s41525-021-00176-x |
| spellingShingle | Brian Hon Yin Chung Jeffrey Fong Ting Chau Gane Ka-Shu Wong Rare versus common diseases: a false dichotomy in precision medicine npj Genomic Medicine |
| title | 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_short | Rare versus common diseases: a false dichotomy in precision medicine |
| title_sort | rare versus common diseases a false dichotomy in precision medicine |
| url | https://doi.org/10.1038/s41525-021-00176-x |
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