Personalized medicine for hereditary deafness

Jessica Ord��ez, Oscar Diaz-Horta, Mustafa Tekin

Research output: Contribution to journalArticle

Abstract

Hearing loss is the most common sensory disorder around the world. Genetic factors account for at least 50 % of congenital or prelingual onset deafness. While the clinical phenotype, deafness, is shared and similar across different individuals, the substantial genetic heterogeneity makes the genetic etiology in individual cases rare. Identifi cation of genetic causes has been central to a growing body of knowledge related to diagnostic tools, genetic testing and clinical categorization systems. We will provide an overview of the current state of knowledge and future directions that are guiding the concept of personalized medicine for the deaf individuals.

Original languageEnglish (US)
Pages (from-to)47-59
Number of pages13
JournalAdvances in Predictive, Preventive and Personalised Medicine
Volume6
DOIs
StatePublished - Jan 1 2015

Keywords

  • Comprehensive genetic testing
  • Deafness
  • Genetic heterogeneity
  • GJB2
  • Hearing loss
  • Personalized medicine

ASJC Scopus subject areas

  • Medicine (miscellaneous)

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