Diagnostics for rare diseases

Dr. Stephen Kingsmore is the President and CEO of Rady Children’s Institute for Genomic Medicine. His career as a physician-scientist has covered the implementation of genomic medicine approaches for rare genetic disorders. This has furthered the field of genomic medicine, in which genomic informati...

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Detalles Bibliográficos
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2023
Materias:
Q&A
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9974956/
https://www.ncbi.nlm.nih.gov/pubmed/36854790
http://dx.doi.org/10.1038/s43856-023-00247-3
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description Dr. Stephen Kingsmore is the President and CEO of Rady Children’s Institute for Genomic Medicine. His career as a physician-scientist has covered the implementation of genomic medicine approaches for rare genetic disorders. This has furthered the field of genomic medicine, in which genomic information about an individual is used as part of their clinical care to facilitate diagnosis or improve treatment. In this Q&A, we ask Dr. Kingsmore a series of questions about the challenges in diagnosing rare diseases and how diagnosis could be improved in the future.
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spelling pubmed-99749562023-03-02 Diagnostics for rare diseases Commun Med (Lond) Q&A Dr. Stephen Kingsmore is the President and CEO of Rady Children’s Institute for Genomic Medicine. His career as a physician-scientist has covered the implementation of genomic medicine approaches for rare genetic disorders. This has furthered the field of genomic medicine, in which genomic information about an individual is used as part of their clinical care to facilitate diagnosis or improve treatment. In this Q&A, we ask Dr. Kingsmore a series of questions about the challenges in diagnosing rare diseases and how diagnosis could be improved in the future. Nature Publishing Group UK 2023-02-28 /pmc/articles/PMC9974956/ /pubmed/36854790 http://dx.doi.org/10.1038/s43856-023-00247-3 Text en © Springer Nature Limited 2023, corrected publication 2023 https://creativecommons.org/licenses/by/4.0/Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) .
spellingShingle Q&A
Diagnostics for rare diseases
title Diagnostics for rare diseases
title_full Diagnostics for rare diseases
title_fullStr Diagnostics for rare diseases
title_full_unstemmed Diagnostics for rare diseases
title_short Diagnostics for rare diseases
title_sort diagnostics for rare diseases
topic Q&A
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9974956/
https://www.ncbi.nlm.nih.gov/pubmed/36854790
http://dx.doi.org/10.1038/s43856-023-00247-3

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