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Personalized or Precision Medicine? The Example of Cystic Fibrosis

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Autor(es):
Marson, Fernando A. L. ; Bertuzzo, Carmen S. ; Ribeiro, Jose D.
Número total de Autores: 3
Tipo de documento: Artigo de Revisão
Fonte: FRONTIERS IN PHARMACOLOGY; v. 8, JUN 20 2017.
Citações Web of Science: 14
Resumo

The advent of the knowledge on human genetics, by the identification of disease-associated variants, culminated in the understanding of human variability. With the genetic knowledge, the specificity of the clinical phenotype and the drug response of each individual were understood. Using the cystic fibrosis (CF) as an example, the new terms that emerged such as personalized medicine and precision medicine can be characterized. The genetic knowledge in CF is broad and the presence of a monogenic disease caused by mutations in the CFTR gene enables the phenotype-genotype association studies (including the response to drugs), considering the wide clinical and laboratory spectrum dependent on the mutual action of genotype, environment, and lifestyle. Regarding the CF disease, personalized medicine is the treatment directed at the symptoms, and this treatment is adjusted depending on the patient's phenotype. However, more recently, the term precision medicine began to be widely used, although its correct application and understanding are still vague and poorly characterized. In precision medicine, we understand the individual as a response to the interrelation between environment, lifestyle, and genetic factors, which enabled the advent of new therapeutic models, such as conventional drugs adjustment by individual patient dosage and drug type and response, development of new drugs (read through, broker, enhancer, stabilizer, and amplifier compounds), genome editing by homologous recombination, zinc finger nucleases, TALEN (transcription activator-like effector nuclease), CRISPR-Cas9 (clustered regularly interspaced short palindromic repeats-CRISPR-associated endonuclease 9), and gene therapy. Thus, we introduced the terms personalized medicine and precision medicine based on the CF. (AU)

Processo FAPESP: 11/12939-4 - Associação entre polimorfismos de genes moduladores em crianças e adolescentes com asma alérgica e não alérgica: leve, moderada e grave
Beneficiário:Fernando Augusto de Lima Marson
Modalidade de apoio: Bolsas no Brasil - Doutorado
Processo FAPESP: 15/12183-8 - Identificação das mutações prevalentes e caracterização clínica e funcional de crianças e adultos com discinesia ciliar primária
Beneficiário:Jose Dirceu Ribeiro
Modalidade de apoio: Auxílio à Pesquisa - Regular
Processo FAPESP: 11/18845-1 - Associação entre polimorfismos de genes moduladores em crianças e adolescentes com asma alérgica e não alérgica leve, moderada e grave
Beneficiário:Jose Dirceu Ribeiro
Modalidade de apoio: Auxílio à Pesquisa - Regular
Processo FAPESP: 15/12858-5 - Identificação das mutações prevalentes e caracterização clínica e funcional de crianças e adultos com discinesia ciliar primária
Beneficiário:Fernando Augusto de Lima Marson
Modalidade de apoio: Bolsas no Brasil - Pós-Doutorado