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Emerging targeted drug therapies in skeletal dysplasias.
Yap, Patrick; Savarirayan, Ravi.
Afiliação
  • Yap P; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia.
  • Savarirayan R; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia. ravi.savarirayan@vcgs.org.au.
Am J Med Genet A ; 170(10): 2596-604, 2016 10.
Article em En | MEDLINE | ID: mdl-27155200
ABSTRACT
Quantum advances have occurred in the field of human genetics in the six decades since Watson and Crick expressed their "wish to suggest a structure for the salt of deoxyribose nucleic acid." These culminated with the human genome project, which has opened up myriad possibilities, including that of individualized genetic medicine, the ability to deliver medical advice, management, and therapy tailored to an individual's genetic blueprint. Advances in genetic diagnostic capabilities have been rapid, to the point where the genome can be sequenced for several thousand dollars. Crucially, it has facilitated the identification of targets for "precision" treatments to combat genetic diseases at their source. This manuscript will review the innovative, pathogenesis-based therapies that are revolutionizing management of skeletal dysplasias, giving patients and families new options and outcomes. © 2016 Wiley Periodicals, Inc.
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Osteocondrodisplasias / Terapia de Alvo Molecular Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Animals / Humans Idioma: En Ano de publicação: 2016 Tipo de documento: Article

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Osteocondrodisplasias / Terapia de Alvo Molecular Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Animals / Humans Idioma: En Ano de publicação: 2016 Tipo de documento: Article