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Murillo-Cuesta S, Artuch R, Asensio F, et al. The Value of Mouse Models of Rare Diseases: A Spanish Experience. Front Genet. 2020;11:583932doi: 10.3389/fgene.2020.583932.
Murillo-Cuesta, S., Artuch, R., Asensio, F., de la Villa, P., Dierssen, M., Enríquez, J. A., Fillat, C., Fourcade, S., Ibáñez, B., Montoliu, L., Oliver, E., Pujol, A., Salido, E., Vallejo, M., & Varela-Nieto, I. (2020). The Value of Mouse Models of Rare Diseases: A Spanish Experience. Frontiers in genetics, 11583932. https://doi.org/10.3389/fgene.2020.583932
Murillo-Cuesta, Silvia, et al. "The Value of Mouse Models of Rare Diseases: A Spanish Experience." Frontiers in genetics vol. 11 (2020): 583932. doi: https://doi.org/10.3389/fgene.2020.583932
Murillo-Cuesta S, Artuch R, Asensio F, de la Villa P, Dierssen M, Enríquez JA, Fillat C, Fourcade S, Ibáñez B, Montoliu L, Oliver E, Pujol A, Salido E, Vallejo M, Varela-Nieto I. The Value of Mouse Models of Rare Diseases: A Spanish Experience. Front Genet. 2020 Oct 14;11:583932. doi: 10.3389/fgene.2020.583932. eCollection 2020. PMID: 33173540; PMCID: PMC7591746.
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Front Genet. 2020 Oct 14;11:583932. doi: 10.3389/fgene.2020.583932. eCollection 2020.

The Value of Mouse Models of Rare Diseases: A Spanish Experience.

Frontiers in genetics

Silvia Murillo-Cuesta, Rafael Artuch, Fernando Asensio, Pedro de la Villa, Mara Dierssen, Jose Antonio Enríquez, Cristina Fillat, Stéphane Fourcade, Borja Ibáñez, Lluis Montoliu, Eduardo Oliver, Aurora Pujol, Eduardo Salido, Mario Vallejo, Isabel Varela-Nieto

Affiliations

  1. Biomedical Research Networking Center on Rare Diseases (CIBERER), Institute of Health Carlos III, Madrid, Spain.
  2. Instituto de Investigaciones Biomédicas Alberto Sols (IIBM), Consejo Superior de Investigaciones Científicas/Universidad Autónoma de Madrid, Madrid, Spain.
  3. Hospital La Paz Institute for Health Research (IdiPAZ), Madrid, Spain.
  4. Institut de Recerca Sant Joan de Déu (IRSJD), Barcelona, Spain.
  5. Gregorio Marañón Institute for Health Research (IISGM), Madrid, Spain.
  6. Faculty of Medicine, University of Alcalá (UAH), Alcalá de Henares, Spain.
  7. Centre for Genomic Regulation (CRG), Barcelona Institute of Science and Technology (BIST), Barcelona, Spain.
  8. Universitat Pompeu Fabra (UPF), Barcelona, Spain.
  9. Spanish National Center for Cardiovascular Research (CNIC), Institute of Health Carlos III, Madrid, Spain.
  10. Biomedical Research Networking Center on Frailty and Healthy Ageing (CIBERFES), Institute of Health Carlos III, Madrid, Spain.
  11. Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Barcelona, Spain.
  12. Bellvitge Biomedical Research Institute (IDIBELL), L'Hospitalet de Llobregat, Barcelona, Spain.
  13. Biomedical Research Networking Center on Cardiovascular Diseases (CIBERCV), Institute of Health Carlos III, Madrid, Spain.
  14. Cardiology Department, Fundación Jiménez Díaz University Hospital Health Research Institute (IIS-FJD), Madrid, Spain.
  15. National Center for Biotechnology (CNB), Spanish National Research Council, Madrid, Spain.
  16. Catalan Institution of Research and Advanced Studies (ICREA), Barcelona, Spain.
  17. Unidad de Investigación, Hospital Universitario de Canarias, Instituto de Tecnologías Biomédicas (ITB), La Laguna, Spain.
  18. Biomedical Research Networking Center on Diabetes and Metabolic Diseases (CIBERDEM), Institute of Health Carlos III, Madrid, Spain.

PMID: 33173540 PMCID: PMC7591746 DOI: 10.3389/fgene.2020.583932

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.

Copyright © 2020 Murillo-Cuesta, Artuch, Asensio, de la Villa, Dierssen, Enríquez, Fillat, Fourcade, Ibáñez, Montoliu, Oliver, Pujol, Salido, Vallejo and Varela-Nieto.

Keywords: animal models; ethics; novel therapies; orphan diseases; preclinical research; transparency

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