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Improving translational studies: lessons from rare neuromuscular diseases
Animal models play a key role in the development of novel treatments for human disease. This is particularly true for rare diseases – defined as disorders that affect less than 1 in 2000 people in the human population – for which, very often, there are no effective methods of treatment. Pharmaceutic...
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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The Company of Biologists
2015
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Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4610241/ https://www.ncbi.nlm.nih.gov/pubmed/26438690 http://dx.doi.org/10.1242/dmm.022616 |
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author | Wells, Dominic |
author_facet | Wells, Dominic |
author_sort | Wells, Dominic |
collection | PubMed |
description | Animal models play a key role in the development of novel treatments for human disease. This is particularly true for rare diseases – defined as disorders that affect less than 1 in 2000 people in the human population – for which, very often, there are no effective methods of treatment. Pharmaceutical companies are increasingly focussing on the development of therapies for the more than 7000 rare diseases. Because the majority of these are the result of single gene disorders, the exceptional ability to manipulate the mouse genome means that many such studies will take place in the laboratory mouse. But how good are the mouse models and how useful are they in assessing the potential for translational medicine? In this Editorial, I will discuss current difficulties in translational research as well as examples of good laboratory practice and guidelines that are being implemented to improve the translational potential of animal studies in the field of neuromuscular rare diseases. This could represent a potentially useful approach for adoption by other disease fields to achieve a greater success rate in translational studies. |
format | Online Article Text |
id | pubmed-4610241 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2015 |
publisher | The Company of Biologists |
record_format | MEDLINE/PubMed |
spelling | pubmed-46102412015-10-27 Improving translational studies: lessons from rare neuromuscular diseases Wells, Dominic Dis Model Mech Editorial Animal models play a key role in the development of novel treatments for human disease. This is particularly true for rare diseases – defined as disorders that affect less than 1 in 2000 people in the human population – for which, very often, there are no effective methods of treatment. Pharmaceutical companies are increasingly focussing on the development of therapies for the more than 7000 rare diseases. Because the majority of these are the result of single gene disorders, the exceptional ability to manipulate the mouse genome means that many such studies will take place in the laboratory mouse. But how good are the mouse models and how useful are they in assessing the potential for translational medicine? In this Editorial, I will discuss current difficulties in translational research as well as examples of good laboratory practice and guidelines that are being implemented to improve the translational potential of animal studies in the field of neuromuscular rare diseases. This could represent a potentially useful approach for adoption by other disease fields to achieve a greater success rate in translational studies. The Company of Biologists 2015-10-01 /pmc/articles/PMC4610241/ /pubmed/26438690 http://dx.doi.org/10.1242/dmm.022616 Text en © 2015. Published by The Company of Biologists Ltd http://creativecommons.org/licenses/by/3.0 This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/3.0), which permits unrestricted use, distribution and reproduction in any medium provided that the original work is properly attributed. |
spellingShingle | Editorial Wells, Dominic Improving translational studies: lessons from rare neuromuscular diseases |
title | Improving translational studies: lessons from rare neuromuscular diseases |
title_full | Improving translational studies: lessons from rare neuromuscular diseases |
title_fullStr | Improving translational studies: lessons from rare neuromuscular diseases |
title_full_unstemmed | Improving translational studies: lessons from rare neuromuscular diseases |
title_short | Improving translational studies: lessons from rare neuromuscular diseases |
title_sort | improving translational studies: lessons from rare neuromuscular diseases |
topic | Editorial |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4610241/ https://www.ncbi.nlm.nih.gov/pubmed/26438690 http://dx.doi.org/10.1242/dmm.022616 |
work_keys_str_mv | AT wellsdominic improvingtranslationalstudieslessonsfromrareneuromusculardiseases |