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2022: a pivotal year for diagnosis and treatment of rare genetic diseases
The start of 2022 is an inflection point in the development of diagnostics and treatments for rare genetic diseases in prenatal, pediatric, and adult individuals–the theme of this special issue. Here I briefly review recent developments in two pivotal aspects of genetic disease diagnostics and treat...
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Cold Spring Harbor Laboratory Press
2022
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8958907/ https://www.ncbi.nlm.nih.gov/pubmed/35217563 http://dx.doi.org/10.1101/mcs.a006204 |
| _version_ | 1784677042631999488 |
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| author | Kingsmore, Stephen F. |
| author_facet | Kingsmore, Stephen F. |
| author_sort | Kingsmore, Stephen F. |
| collection | PubMed |
| description | The start of 2022 is an inflection point in the development of diagnostics and treatments for rare genetic diseases in prenatal, pediatric, and adult individuals–the theme of this special issue. Here I briefly review recent developments in two pivotal aspects of genetic disease diagnostics and treatments: education and equitable implementation. |
| format | Online Article Text |
| id | pubmed-8958907 |
| institution | National Center for Biotechnology Information |
| language | English |
| publishDate | 2022 |
| publisher | Cold Spring Harbor Laboratory Press |
| record_format | MEDLINE/PubMed |
| spelling | pubmed-89589072022-04-08 2022: a pivotal year for diagnosis and treatment of rare genetic diseases Kingsmore, Stephen F. Cold Spring Harb Mol Case Stud Perspective The start of 2022 is an inflection point in the development of diagnostics and treatments for rare genetic diseases in prenatal, pediatric, and adult individuals–the theme of this special issue. Here I briefly review recent developments in two pivotal aspects of genetic disease diagnostics and treatments: education and equitable implementation. Cold Spring Harbor Laboratory Press 2022-02 /pmc/articles/PMC8958907/ /pubmed/35217563 http://dx.doi.org/10.1101/mcs.a006204 Text en © 2022 Kingsmore; Published by Cold Spring Harbor Laboratory Press https://creativecommons.org/licenses/by-nc/4.0/This article is distributed under the terms of the Creative Commons Attribution-NonCommercial License (https://creativecommons.org/licenses/by-nc/4.0/) , which permits reuse and redistribution, except for commercial purposes, provided that the original author and source are credited. |
| spellingShingle | Perspective Kingsmore, Stephen F. 2022: a pivotal year for diagnosis and treatment of rare genetic diseases |
| title | 2022: a pivotal year for diagnosis and treatment of rare genetic diseases |
| title_full | 2022: a pivotal year for diagnosis and treatment of rare genetic diseases |
| title_fullStr | 2022: a pivotal year for diagnosis and treatment of rare genetic diseases |
| title_full_unstemmed | 2022: a pivotal year for diagnosis and treatment of rare genetic diseases |
| title_short | 2022: a pivotal year for diagnosis and treatment of rare genetic diseases |
| title_sort | 2022: a pivotal year for diagnosis and treatment of rare genetic diseases |
| topic | Perspective |
| url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8958907/ https://www.ncbi.nlm.nih.gov/pubmed/35217563 http://dx.doi.org/10.1101/mcs.a006204 |
| work_keys_str_mv | AT kingsmorestephenf 2022apivotalyearfordiagnosisandtreatmentofraregeneticdiseases |