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Ethical Issues Surrounding Newborn Screening

It would be difficult to overestimate the importance of persistent, thoughtful parents and their importance in the development of treatments for their children’s rare disorders. Almost a century ago in Norway, observant parents led a brilliant young physician-scientist to his discovery of the underl...

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Detalles Bibliográficos
Autor principal: Howell, R. Rodney
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7838989/
https://www.ncbi.nlm.nih.gov/pubmed/33435435
http://dx.doi.org/10.3390/ijns7010003
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author Howell, R. Rodney
author_facet Howell, R. Rodney
author_sort Howell, R. Rodney
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description It would be difficult to overestimate the importance of persistent, thoughtful parents and their importance in the development of treatments for their children’s rare disorders. Almost a century ago in Norway, observant parents led a brilliant young physician-scientist to his discovery of the underlying cause of their children’s profound developmental delay—i.e., phenylketonuria, or PKU. Decades later, in a recovering war-ravaged Britain, an equally persistent mother pressed the scientists at Birmingham Children’s Hospital to find a way to treat her seriously damaged daughter, Sheila, who suffered from PKU. Living on the financial edge, this mother insisted that Bickel and colleagues develop such a diet, and she volunteered Sheila to be the patient in the trial. The scientists concluded that the low phenylalanine diet helped but needed to be started very early—so, newborn screening was born to permit the implementation of this. Many steps brought us to where we are today, but these courageous parents made it all begin.
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spelling pubmed-78389892021-01-28 Ethical Issues Surrounding Newborn Screening Howell, R. Rodney Int J Neonatal Screen Commentary It would be difficult to overestimate the importance of persistent, thoughtful parents and their importance in the development of treatments for their children’s rare disorders. Almost a century ago in Norway, observant parents led a brilliant young physician-scientist to his discovery of the underlying cause of their children’s profound developmental delay—i.e., phenylketonuria, or PKU. Decades later, in a recovering war-ravaged Britain, an equally persistent mother pressed the scientists at Birmingham Children’s Hospital to find a way to treat her seriously damaged daughter, Sheila, who suffered from PKU. Living on the financial edge, this mother insisted that Bickel and colleagues develop such a diet, and she volunteered Sheila to be the patient in the trial. The scientists concluded that the low phenylalanine diet helped but needed to be started very early—so, newborn screening was born to permit the implementation of this. Many steps brought us to where we are today, but these courageous parents made it all begin. MDPI 2021-01-09 /pmc/articles/PMC7838989/ /pubmed/33435435 http://dx.doi.org/10.3390/ijns7010003 Text en © 2021 by the author. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (http://creativecommons.org/licenses/by/4.0/).
spellingShingle Commentary
Howell, R. Rodney
Ethical Issues Surrounding Newborn Screening
title Ethical Issues Surrounding Newborn Screening
title_full Ethical Issues Surrounding Newborn Screening
title_fullStr Ethical Issues Surrounding Newborn Screening
title_full_unstemmed Ethical Issues Surrounding Newborn Screening
title_short Ethical Issues Surrounding Newborn Screening
title_sort ethical issues surrounding newborn screening
topic Commentary
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7838989/
https://www.ncbi.nlm.nih.gov/pubmed/33435435
http://dx.doi.org/10.3390/ijns7010003
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