Biomarkers and personalized medicine in rare diseases
DOI:
https://doi.org/10.3989/arbor.2018.789n3007Keywords:
Biomarkers, rare diseases, personalized medicine, genomics, proteomics, metabolomicsAbstract
Rare diseases differ from common diseases, beyond their low prevalence. Biomarkers are characterized as useful tools to objectively identify and evaluate normal biological processes, pathological processes, or the pharmacological response to therapeutic or other healthcare interventions. As biological determinants of human disease biomarkers are of special interest for the study of diseases and to monitor the therapeutic responses of new drugs. In the field of rare diseases, genetic and genomic biomarkers are essential to determine the primary mutation and genomic profile but, as with common complex diseases, both biochemical biomarkers and the dynamic and functional omic profiles are fundamental to design the personalized medicine for patients with rare diseases.
Downloads
References
Berman, J. J. (2014). Rare Diseases and Orphan Drugs. Keys to Understanding and Treating the Common Diseases. Amsterdam: Elsevier Inc.
Bonassi, S. y Neri, M. (2009). Application of biomarkers in human population studies. En: Willard, H. F. y Ginsburg, G. S. (eds.). Genomic and Personalized Medicine. San Diego: Academic Press, pp. 299-307. https://doi.org/10.1016/B978-0-12-369420-1.00025-1
Boycott, K. M., Dyment, D. A., Sawyer, S. L., Vanstone, M. R. y Beaulieu, C. L. (2014). Identification of genes for childhood heritable diseases. Annual Review of Medicine, 65, pp. 19-31. https://doi.org/10.1146/annurev-med-101712-122108 PMid:24422568
Ferlini, A., Scotton, C. y Novelli, G. (2013). Biomarkers in rare diseases. Public Health Genomics, 16 (6), pp. 313-321. https://doi.org/10.1159/000355938 PMid:24503592
Ginsburg, G. S. (2009). Translational genomics: from discovery to clinical practice. En: Willard, H. F. y Ginsburg, G. S. (eds.). Genomic and Personalized Medicine. San Diego: Academic Press, pp. 261-274. https://doi.org/10.1016/B978-0-12-369420-1.00022-6
Ginsburg, G. S. y Willard, H. F. (2010). The foundations of genomic and personalized medicine. En: Ginsburg, G. S. y Willard, H. F. (eds.). Essentials of Genomic and Personalized Medicine. San Diego: Academic Press / Elsevier Inc., pp. 1-10. https://doi.org/10.1016/B978-0-12-374934-5.00001-5
Hamburg, M. A. y Collins, F. S. (2010). The path to personalized medicine. New England Journal of Medicine, 363 (4), pp. 301-304. https://doi.org/10.1056/NEJMp1006304 PMid:20551152
Palau, F. (2010). Enfermedades raras, un paradigma emergente en la medicina del siglo XXI. Medicina Clínica, 134 (4), pp. 161-168. https://doi.org/10.1016/j.medcli.2009.06.038 PMid:19767033
Palau, F. (2012). Personalized medicine in rare diseases. Personalized Medicine, 9 (2), pp. 137-141. https://doi.org/10.2217/pme.12.2 PMid:29758812
Roubertoux, P. L. y Vries, P. J. de (2011). From molecules to behavior: lessons from the study of rare genetic disorders. Behavior Genetics, 41 (3), 341-348. https://doi.org/10.1007/s10519-011-9469-y PMid:21541644
Scotton, C., Passarelli, C., Neri, M. y Ferlini, A. (2014). Biomarkers in rare neuromuscular diseases. Experimental Cell Research, 325 (1), pp. 44-49. https://doi.org/10.1016/j.yexcr.2013.12.020 PMid:24389168
Snyderman, R. (2009). The role of genomics in enabling prospective health care. En: Willard, H. F. y Ginsburg, G. S. (eds.). Genomic and Personalized Medicine, San Diego: Academic Press, pp. 378- 385. https://doi.org/10.1016/B978-0-12-369420-1.00032-9
Snyderman, R. y Langheier, J. (2006). Prospective health care: the second transformation of medicine. Genome Biology, 7 (2), 104. https://doi.org/10.1186/gb-2006-7-2-104 PMid:16522218 PMCid:PMC1431721
Snyderman, R. y Yoediono, Z. (2006). Prospective care: a personalized, preventive approach to medicine. Pharmacogenomics 7 (1), pp. 5-9. https://doi.org/10.2217/14622416.7.1.5
Published
How to Cite
Issue
Section
License
Copyright (c) 2018 Consejo Superior de Investigaciones Científicas (CSIC)
![Creative Commons License](http://i.creativecommons.org/l/by/4.0/88x31.png)
This work is licensed under a Creative Commons Attribution 4.0 International License.
© CSIC. Manuscripts published in both the printed and online versions of this Journal are the property of Consejo Superior de Investigaciones Científicas, and quoting this source is a requirement for any partial or full reproduction.All contents of this electronic edition, except where otherwise noted, are distributed under a “Creative Commons Attribution 4.0 International” (CC BY 4.0) License. You may read here the basic information and the legal text of the license. The indication of the CC BY 4.0 License must be expressly stated in this way when necessary.
Self-archiving in repositories, personal webpages or similar, of any version other than the published by the Editor, is not allowed.