Modelling Neuromuscular Diseases in the Age of Precision Medicine
Advances in knowledge resulting from the sequencing of the human genome, coupled with technological developments and a deeper understanding of disease mechanisms of pathogenesis are paving the way for a growing role of precision medicine in the treatment of a number of human conditions. The goal of...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
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MDPI AG
2020-10-01
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| Series: | Journal of Personalized Medicine |
| Subjects: | |
| Online Access: | https://www.mdpi.com/2075-4426/10/4/178 |
| _version_ | 1797550582976741376 |
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| author | Alfina A. Speciale Ruth Ellerington Thomas Goedert Carlo Rinaldi |
| author_facet | Alfina A. Speciale Ruth Ellerington Thomas Goedert Carlo Rinaldi |
| author_sort | Alfina A. Speciale |
| collection | DOAJ |
| description | Advances in knowledge resulting from the sequencing of the human genome, coupled with technological developments and a deeper understanding of disease mechanisms of pathogenesis are paving the way for a growing role of precision medicine in the treatment of a number of human conditions. The goal of precision medicine is to identify and deliver effective therapeutic approaches based on patients’ genetic, environmental, and lifestyle factors. With the exception of cancer, neurological diseases provide the most promising opportunity to achieve treatment personalisation, mainly because of accelerated progress in gene discovery, deep clinical phenotyping, and biomarker availability. Developing reproducible, predictable and reliable disease models will be key to the rapid delivery of the anticipated benefits of precision medicine. Here we summarize the current state of the art of preclinical models for neuromuscular diseases, with particular focus on their use and limitations to predict safety and efficacy treatment outcomes in clinical trials. |
| first_indexed | 2024-03-10T15:32:22Z |
| format | Article |
| id | doaj.art-4a7817e2e93b49cabb87c0134aca5ae6 |
| institution | Directory Open Access Journal |
| issn | 2075-4426 |
| language | English |
| last_indexed | 2024-03-10T15:32:22Z |
| publishDate | 2020-10-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Journal of Personalized Medicine |
| spelling | doaj.art-4a7817e2e93b49cabb87c0134aca5ae62023-11-20T17:31:50ZengMDPI AGJournal of Personalized Medicine2075-44262020-10-0110417810.3390/jpm10040178Modelling Neuromuscular Diseases in the Age of Precision MedicineAlfina A. Speciale0Ruth Ellerington1Thomas Goedert2Carlo Rinaldi3Department of Paediatrics, University of Oxford, Oxford OX1 3QX, UKDepartment of Paediatrics, University of Oxford, Oxford OX1 3QX, UKDepartment of Paediatrics, University of Oxford, Oxford OX1 3QX, UKDepartment of Paediatrics, University of Oxford, Oxford OX1 3QX, UKAdvances in knowledge resulting from the sequencing of the human genome, coupled with technological developments and a deeper understanding of disease mechanisms of pathogenesis are paving the way for a growing role of precision medicine in the treatment of a number of human conditions. The goal of precision medicine is to identify and deliver effective therapeutic approaches based on patients’ genetic, environmental, and lifestyle factors. With the exception of cancer, neurological diseases provide the most promising opportunity to achieve treatment personalisation, mainly because of accelerated progress in gene discovery, deep clinical phenotyping, and biomarker availability. Developing reproducible, predictable and reliable disease models will be key to the rapid delivery of the anticipated benefits of precision medicine. Here we summarize the current state of the art of preclinical models for neuromuscular diseases, with particular focus on their use and limitations to predict safety and efficacy treatment outcomes in clinical trials.https://www.mdpi.com/2075-4426/10/4/178neuromuscular diseasestranslational researchdisease modelsprecision medicine |
| spellingShingle | Alfina A. Speciale Ruth Ellerington Thomas Goedert Carlo Rinaldi Modelling Neuromuscular Diseases in the Age of Precision Medicine Journal of Personalized Medicine neuromuscular diseases translational research disease models precision medicine |
| title | Modelling Neuromuscular Diseases in the Age of Precision Medicine |
| title_full | Modelling Neuromuscular Diseases in the Age of Precision Medicine |
| title_fullStr | Modelling Neuromuscular Diseases in the Age of Precision Medicine |
| title_full_unstemmed | Modelling Neuromuscular Diseases in the Age of Precision Medicine |
| title_short | Modelling Neuromuscular Diseases in the Age of Precision Medicine |
| title_sort | modelling neuromuscular diseases in the age of precision medicine |
| topic | neuromuscular diseases translational research disease models precision medicine |
| url | https://www.mdpi.com/2075-4426/10/4/178 |
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