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) |
|---|---|
| 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 |
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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
Cite this
Genomic-based diagnosis of arrhythmia disease in a personalized medicine era. / Omar, Abdullah; Zhou, Mi; Berman, Adam Eric; Sorrentino, Robert A; Yar, Neela; Weintraub, Neal Lee; Kim, Il-man; Lei, Wei; Tang, Yao Liang.
In: Expert Review of Precision Medicine and Drug Development, Vol. 1, No. 6, 01.11.2016, p. 497-504.Research output: Contribution to journal › Review article
}
TY - JOUR
T1 - Genomic-based diagnosis of arrhythmia disease in a personalized medicine era
AU - Omar, Abdullah
AU - Zhou, Mi
AU - Berman, Adam Eric
AU - Sorrentino, Robert A
AU - Yar, Neela
AU - Weintraub, Neal Lee
AU - Kim, Il-man
AU - Lei, Wei
AU - Tang, Yao Liang
PY - 2016/11/1
Y1 - 2016/11/1
N2 - 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.
AB - 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.
KW - Acquired Long QT syndrome
KW - Brugada Syndrome
KW - Cardiac arrhythmia
KW - Catecholaminergic Polymorphic Ventricular Tachycardia
KW - Long QT Syndrome
KW - Next generation sequencing
KW - Personalized Medicine
KW - Precision Medicine
KW - Short QT syndrome
UR - http://www.scopus.com/inward/record.url?scp=85041474641&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85041474641&partnerID=8YFLogxK
U2 - 10.1080/23808993.2016.1264258
DO - 10.1080/23808993.2016.1264258
M3 - Review article
VL - 1
SP - 497
EP - 504
JO - Expert Review of Precision Medicine and Drug Development
JF - Expert Review of Precision Medicine and Drug Development
SN - 2380-8993
IS - 6
ER -