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 language | English (US) |
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Pages (from-to) | 497-504 |
Number of pages | 8 |
Journal | Expert Review of Precision Medicine and Drug Development |
Volume | 1 |
Issue number | 6 |
DOIs | |
State | Published - Nov 1 2016 |
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