Frontiers in Genetics (Oct 2020)
The Value of Mouse Models of Rare Diseases: A Spanish Experience
- Silvia Murillo-Cuesta,
- Silvia Murillo-Cuesta,
- Silvia Murillo-Cuesta,
- Rafael Artuch,
- Rafael Artuch,
- Fernando Asensio,
- Pedro de la Villa,
- Mara Dierssen,
- Mara Dierssen,
- Mara Dierssen,
- Jose Antonio Enríquez,
- Jose Antonio Enríquez,
- Cristina Fillat,
- Cristina Fillat,
- Stéphane Fourcade,
- Stéphane Fourcade,
- Borja Ibáñez,
- Borja Ibáñez,
- Borja Ibáñez,
- Lluis Montoliu,
- Lluis Montoliu,
- Eduardo Oliver,
- Eduardo Oliver,
- Aurora Pujol,
- Aurora Pujol,
- Aurora Pujol,
- Eduardo Salido,
- Eduardo Salido,
- Mario Vallejo,
- Mario Vallejo,
- Isabel Varela-Nieto,
- Isabel Varela-Nieto,
- Isabel Varela-Nieto
Affiliations
- Silvia Murillo-Cuesta
- Biomedical Research Networking Center on Rare Diseases (CIBERER), Institute of Health Carlos III, Madrid, Spain
- Silvia Murillo-Cuesta
- Instituto de Investigaciones Biomédicas Alberto Sols (IIBM), Consejo Superior de Investigaciones Científicas/Universidad Autónoma de Madrid, Madrid, Spain
- Silvia Murillo-Cuesta
- Hospital La Paz Institute for Health Research (IdiPAZ), Madrid, Spain
- Rafael Artuch
- Biomedical Research Networking Center on Rare Diseases (CIBERER), Institute of Health Carlos III, Madrid, Spain
- Rafael Artuch
- Institut de Recerca Sant Joan de Déu (IRSJD), Barcelona, Spain
- Fernando Asensio
- Gregorio Marañón Institute for Health Research (IISGM), Madrid, Spain
- Pedro de la Villa
- Faculty of Medicine, University of Alcalá (UAH), Alcalá de Henares, Spain
- Mara Dierssen
- Biomedical Research Networking Center on Rare Diseases (CIBERER), Institute of Health Carlos III, Madrid, Spain
- Mara Dierssen
- Centre for Genomic Regulation (CRG), Barcelona Institute of Science and Technology (BIST), Barcelona, Spain
- Mara Dierssen
- Universitat Pompeu Fabra (UPF), Barcelona, Spain
- Jose Antonio Enríquez
- Spanish National Center for Cardiovascular Research (CNIC), Institute of Health Carlos III, Madrid, Spain
- Jose Antonio Enríquez
- 0Biomedical Research Networking Center on Frailty and Healthy Ageing (CIBERFES), Institute of Health Carlos III, Madrid, Spain
- Cristina Fillat
- Biomedical Research Networking Center on Rare Diseases (CIBERER), Institute of Health Carlos III, Madrid, Spain
- Cristina Fillat
- 1Institut d’Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Barcelona, Spain
- Stéphane Fourcade
- Biomedical Research Networking Center on Rare Diseases (CIBERER), Institute of Health Carlos III, Madrid, Spain
- Stéphane Fourcade
- 2Bellvitge Biomedical Research Institute (IDIBELL), L’Hospitalet de Llobregat, Barcelona, Spain
- Borja Ibáñez
- Spanish National Center for Cardiovascular Research (CNIC), Institute of Health Carlos III, Madrid, Spain
- Borja Ibáñez
- 3Biomedical Research Networking Center on Cardiovascular Diseases (CIBERCV), Institute of Health Carlos III, Madrid, Spain
- Borja Ibáñez
- 4Cardiology Department, Fundación Jiménez Díaz University Hospital Health Research Institute (IIS-FJD), Madrid, Spain
- Lluis Montoliu
- Biomedical Research Networking Center on Rare Diseases (CIBERER), Institute of Health Carlos III, Madrid, Spain
- Lluis Montoliu
- 5National Center for Biotechnology (CNB), Spanish National Research Council, Madrid, Spain
- Eduardo Oliver
- Spanish National Center for Cardiovascular Research (CNIC), Institute of Health Carlos III, Madrid, Spain
- Eduardo Oliver
- 3Biomedical Research Networking Center on Cardiovascular Diseases (CIBERCV), Institute of Health Carlos III, Madrid, Spain
- Aurora Pujol
- Biomedical Research Networking Center on Rare Diseases (CIBERER), Institute of Health Carlos III, Madrid, Spain
- Aurora Pujol
- 2Bellvitge Biomedical Research Institute (IDIBELL), L’Hospitalet de Llobregat, Barcelona, Spain
- Aurora Pujol
- 6Catalan Institution of Research and Advanced Studies (ICREA), Barcelona, Spain
- Eduardo Salido
- Biomedical Research Networking Center on Rare Diseases (CIBERER), Institute of Health Carlos III, Madrid, Spain
- Eduardo Salido
- 7Unidad de Investigación, Hospital Universitario de Canarias, Instituto de Tecnologías Biomédicas (ITB), La Laguna, Spain
- Mario Vallejo
- Instituto de Investigaciones Biomédicas Alberto Sols (IIBM), Consejo Superior de Investigaciones Científicas/Universidad Autónoma de Madrid, Madrid, Spain
- Mario Vallejo
- 8Biomedical Research Networking Center on Diabetes and Metabolic Diseases (CIBERDEM), Institute of Health Carlos III, Madrid, Spain
- Isabel Varela-Nieto
- Biomedical Research Networking Center on Rare Diseases (CIBERER), Institute of Health Carlos III, Madrid, Spain
- Isabel Varela-Nieto
- Instituto de Investigaciones Biomédicas Alberto Sols (IIBM), Consejo Superior de Investigaciones Científicas/Universidad Autónoma de Madrid, Madrid, Spain
- Isabel Varela-Nieto
- Hospital La Paz Institute for Health Research (IdiPAZ), Madrid, Spain
- DOI
- https://doi.org/10.3389/fgene.2020.583932
- Journal volume & issue
-
Vol. 11
Abstract
Animal models are invaluable for biomedical research, especially in the context of rare diseases, which have a very low prevalence and are often complex. Concretely mouse models provide key information on rare disease mechanisms and therapeutic strategies that cannot be obtained by using only alternative methods, and greatly contribute to accelerate the development of new therapeutic options for rare diseases. Despite this, the use of experimental animals remains controversial. The combination of respectful management, ethical laws and transparency regarding animal experimentation contributes to improve society’s opinion about biomedical research and positively impacts on research quality, which eventually also benefits patients. Here we present examples of current advances in preclinical research in rare diseases using mouse models, together with our perspective on future directions and challenges.
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