Genomic-based diagnosis of arrhythmia disease in a personalized medicine era

Abdullah Omar, Mi Zhou, Adam Eric Berman, Robert A Sorrentino, Neela Yar, Neal Lee Weintraub, Il-man Kim, Wei Lei, Yao Liang Tang

Research output: Contribution to journalReview article

1 Scopus citations

Abstract

Introduction: Although thousands of potentially disease-causing mutations have been identified in a handful of genes, the genetic heterogeneity has led to diagnostic confusions, stemming directly from the limitations in our arsenal of genetic tools. Areas covered: We discuss the genetic basis of cardiac ion channelopathies, the gaps in our knowledge and how Next-generation sequencing technology (NGS) and can be used to bridge them, and how induced pluripotent stem cell (iPSC) derived-cardiomyocytes can be used for drug discovery. Expert commentary: Univariate, arrhythmogenic arrhythmias can explain some congenital arrhythmias, however, it is far from a comprehensive understanding of the complexity of many arrhythmias. Mutational screening is a critical step in personalized medicine and is critical to the management of patients with arrhythmias. The success of personalized medicine requires a more efficient way to identify a high number of genetic variants potentially implicated in cardiac arrhythmogenic diseases than traditional sequencing methods (eg, Sanger sequencing). Next-generation sequencing technology provides us with unprecedented opportunities to achieve high-throughput, rapid, and cost-effective detection of congenital arrhythmias in patients. Moreover, in personalized medicine era, IPSC derived-cardiomyocytes can be used as ‘cardiac arrhythmia in a dish’ model for drug discovery, and help us improve management of arrhythmias in patients by developing patient-specific drug therapies with target specificity.

Original languageEnglish (US)
Pages (from-to)497-504
Number of pages8
JournalExpert Review of Precision Medicine and Drug Development
Volume1
Issue number6
DOIs
StatePublished - Nov 1 2016

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Keywords

  • Acquired Long QT syndrome
  • Brugada Syndrome
  • Cardiac arrhythmia
  • Catecholaminergic Polymorphic Ventricular Tachycardia
  • Long QT Syndrome
  • Next generation sequencing
  • Personalized Medicine
  • Precision Medicine
  • Short QT syndrome

ASJC Scopus subject areas

  • Molecular Medicine
  • Genetics
  • Pharmacology
  • Drug Discovery

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