Precision Medicine in Rare Diseases
Rare diseases are those that have a low prevalence in the population (less than 5 individuals per 10,000 inhabitants). However, infrequent pathologies affect a large number of people, since according to the World Health Organization (WHO), there are about 7000 rare diseases that affect 7% of the wor...
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doaj-b0b5c1bd7b594459993962c926ace65c2020-11-25T04:03:32ZengMDPI AGDiseases2079-97212020-11-018424210.3390/diseases8040042Precision Medicine in Rare DiseasesIrene Villalón-García0Mónica Álvarez-Córdoba1Juan Miguel Suárez-Rivero2Suleva Povea-Cabello3Marta Talaverón-Rey4Alejandra Suárez-Carrillo5Manuel Munuera-Cabeza6José Antonio Sánchez-Alcázar7Centro Andaluz de Biología del Desarrollo (CABD-CSIC-Universidad Pablo de Olavide), and Centro de Investigación Biomédica en Red: Enfermedades Raras, Instituto de Salud Carlos III, 41013 Sevilla, SpainCentro Andaluz de Biología del Desarrollo (CABD-CSIC-Universidad Pablo de Olavide), and Centro de Investigación Biomédica en Red: Enfermedades Raras, Instituto de Salud Carlos III, 41013 Sevilla, SpainCentro Andaluz de Biología del Desarrollo (CABD-CSIC-Universidad Pablo de Olavide), and Centro de Investigación Biomédica en Red: Enfermedades Raras, Instituto de Salud Carlos III, 41013 Sevilla, SpainCentro Andaluz de Biología del Desarrollo (CABD-CSIC-Universidad Pablo de Olavide), and Centro de Investigación Biomédica en Red: Enfermedades Raras, Instituto de Salud Carlos III, 41013 Sevilla, SpainCentro Andaluz de Biología del Desarrollo (CABD-CSIC-Universidad Pablo de Olavide), and Centro de Investigación Biomédica en Red: Enfermedades Raras, Instituto de Salud Carlos III, 41013 Sevilla, SpainCentro Andaluz de Biología del Desarrollo (CABD-CSIC-Universidad Pablo de Olavide), and Centro de Investigación Biomédica en Red: Enfermedades Raras, Instituto de Salud Carlos III, 41013 Sevilla, SpainCentro Andaluz de Biología del Desarrollo (CABD-CSIC-Universidad Pablo de Olavide), and Centro de Investigación Biomédica en Red: Enfermedades Raras, Instituto de Salud Carlos III, 41013 Sevilla, SpainCentro Andaluz de Biología del Desarrollo (CABD-CSIC-Universidad Pablo de Olavide), and Centro de Investigación Biomédica en Red: Enfermedades Raras, Instituto de Salud Carlos III, 41013 Sevilla, SpainRare diseases are those that have a low prevalence in the population (less than 5 individuals per 10,000 inhabitants). However, infrequent pathologies affect a large number of people, since according to the World Health Organization (WHO), there are about 7000 rare diseases that affect 7% of the world’s population. Many patients with rare diseases have suffered the consequences of what is called the diagnostic odyssey, that is, extensive and prolonged serial tests and clinical visits, sometimes for many years, all with the hope of identifying the etiology of their disease. For patients with rare diseases, obtaining the genetic diagnosis can mean the end of the diagnostic odyssey, and the beginning of another, the therapeutic odyssey. This scenario is especially challenging for the scientific community, since more than 90% of rare diseases do not currently have an effective treatment. This therapeutic failure in rare diseases means that new approaches are necessary. Our research group proposes that the use of precision or personalized medicine techniques can be an alternative to find potential therapies in these diseases. To this end, we propose that patients’ own cells can be used to carry out personalized pharmacological screening for the identification of potential treatments.https://www.mdpi.com/2079-9721/8/4/42precision medicinerare diseasesneurodegeneration with brain iron accumulationmitochondrial diseasescongenital myopathies |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Irene Villalón-García Mónica Álvarez-Córdoba Juan Miguel Suárez-Rivero Suleva Povea-Cabello Marta Talaverón-Rey Alejandra Suárez-Carrillo Manuel Munuera-Cabeza José Antonio Sánchez-Alcázar |
spellingShingle |
Irene Villalón-García Mónica Álvarez-Córdoba Juan Miguel Suárez-Rivero Suleva Povea-Cabello Marta Talaverón-Rey Alejandra Suárez-Carrillo Manuel Munuera-Cabeza José Antonio Sánchez-Alcázar Precision Medicine in Rare Diseases Diseases precision medicine rare diseases neurodegeneration with brain iron accumulation mitochondrial diseases congenital myopathies |
author_facet |
Irene Villalón-García Mónica Álvarez-Córdoba Juan Miguel Suárez-Rivero Suleva Povea-Cabello Marta Talaverón-Rey Alejandra Suárez-Carrillo Manuel Munuera-Cabeza José Antonio Sánchez-Alcázar |
author_sort |
Irene Villalón-García |
title |
Precision Medicine in Rare Diseases |
title_short |
Precision Medicine in Rare Diseases |
title_full |
Precision Medicine in Rare Diseases |
title_fullStr |
Precision Medicine in Rare Diseases |
title_full_unstemmed |
Precision Medicine in Rare Diseases |
title_sort |
precision medicine in rare diseases |
publisher |
MDPI AG |
series |
Diseases |
issn |
2079-9721 |
publishDate |
2020-11-01 |
description |
Rare diseases are those that have a low prevalence in the population (less than 5 individuals per 10,000 inhabitants). However, infrequent pathologies affect a large number of people, since according to the World Health Organization (WHO), there are about 7000 rare diseases that affect 7% of the world’s population. Many patients with rare diseases have suffered the consequences of what is called the diagnostic odyssey, that is, extensive and prolonged serial tests and clinical visits, sometimes for many years, all with the hope of identifying the etiology of their disease. For patients with rare diseases, obtaining the genetic diagnosis can mean the end of the diagnostic odyssey, and the beginning of another, the therapeutic odyssey. This scenario is especially challenging for the scientific community, since more than 90% of rare diseases do not currently have an effective treatment. This therapeutic failure in rare diseases means that new approaches are necessary. Our research group proposes that the use of precision or personalized medicine techniques can be an alternative to find potential therapies in these diseases. To this end, we propose that patients’ own cells can be used to carry out personalized pharmacological screening for the identification of potential treatments. |
topic |
precision medicine rare diseases neurodegeneration with brain iron accumulation mitochondrial diseases congenital myopathies |
url |
https://www.mdpi.com/2079-9721/8/4/42 |
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