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Related Concept Videos

Pharmacogenomics: Identification of New Drug Targets01:29

Pharmacogenomics: Identification of New Drug Targets

Advances in genomics have profoundly influenced drug discovery by increasing both the speed and accuracy of pharmaceutical development. Pharmacogenomics, which examines how genetic variation influences drug response, facilitates the identification of novel therapeutic targets and enables patient stratification for personalized treatment. These strategies contribute to improved drug efficacy, minimized adverse effects, and more efficient clinical trial design.Mapping genetic differences...
Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu01:29

Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu

Genetic variations significantly influence drug response through pharmacokinetics, receptor interactions, and biologic milieu modifications. Pharmacokinetic alterations impact drug metabolism and clearance, affecting efficacy and toxicity. Variants in drug-metabolizing enzymes, such as CYP2C9 and CYP2C19, alter drug activation and elimination. For example, CYP2C9 loss-of-function variants require lower warfarin doses to prevent excessive bleeding, while CYP2C19 variants reduce clopidogrel...
Principles of Pharmacogenetics: Types of Genetic Variants01:27

Principles of Pharmacogenetics: Types of Genetic Variants

The human genome is over 99.9% identical between individuals, yet genetic differences exist at millions of bases. The human genome contains approximately 3 million variant positions per individual, many of which are heterozygous, contributing to genetic diversity and individual traits. Genetic variations include single-nucleotide polymorphisms (SNPs), insertions, deletions, and copy number variations (CNVs).SNPs, the most common variation, involve single-base changes in DNA. These can be...
Pharmacogenetics of Drug Metabolism: Overview01:27

Pharmacogenetics of Drug Metabolism: Overview

Genetic polymorphism in drug metabolism is crucial to the inter-individual variability observed in drug responses. Drug metabolism primarily involves the chemical modification of drugs and other xenobiotics to enhance their elimination by increasing their polarity. Two main classes of enzymes mediate this biotransformation process: Phase I enzymes, primarily cytochrome P450s, catalyze oxidation and reduction reactions, while other enzymes, such as esterases, mediate hydrolysis, and Phase II...
Pharmacogenetics of Phase I Enzymes: Cytochrome P450 Isozymes01:28

Pharmacogenetics of Phase I Enzymes: Cytochrome P450 Isozymes

Cytochrome P450 (CYP450) enzymes are a superfamily of heme-containing monooxygenases that play a pivotal role in Phase I drug metabolism by catalyzing oxidation and reduction reactions.These enzymes transform lipophilic xenobiotics into more hydrophilic metabolites, facilitating subsequent Phase II conjugation and eventual excretion. The CYP450 family is classified into families (e.g., CYP1–CYP3) and subfamilies (e.g., CYP2A, CYP2C), based on amino acid sequence homology.CYP450 isoenzymes,...
Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase01:11

Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase

Genetic polymorphisms in drug targets have emerged as critical determinants of interindividual variability in drug response and toxicity. Pharmacogenomic investigations increasingly focus on identifying these variations to personalize and optimize therapeutic interventions. A drug target may be a receptor, enzyme, or signaling protein involved in pharmacologic responses or disease-related pathways. While early pharmacogenetic studies focused primarily on drug metabolism, current research...

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Updated: May 24, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
09:34

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Genetic Polymorphisms as Risk Stratification Tool in Primary Preventive ICD Therapy.

Roman Laszlo1, Mathias C Busch, Jüergen Schreieck

  • 1Abteilung für Kardiologie und Kreislauferkrankungen, Klinikum der Eberhard-Karls-Universität Tübingen, 72076 Tübingen, Germany.

ISRN Cardiology
|February 21, 2012
PubMed
Summary

Identifying patients for implantable cardioverter-defibrillators (ICDs) for sudden cardiac death (SCD) prevention is challenging. Genetic polymorphisms may offer a new way to improve risk stratification for primary SCD prevention.

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Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
07:15

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation

Published on: January 16, 2019

Area of Science:

  • Cardiology
  • Genetics
  • Preventive Medicine

Background:

  • Implantable cardioverter-defibrillators (ICDs) are increasingly used for primary prevention of sudden cardiac death (SCD).
  • Current noninvasive risk stratification methods lack sufficient predictive value, leading to suboptimal ICD implantation and continued SCD mortality.
  • There is a critical need for improved tools to identify high-risk individuals for primary preventive ICD implantation.

Purpose of the Study:

  • To explore the potential of genetic polymorphisms in improving risk stratification for sudden cardiac death (SCD).
  • To investigate if an individual's pattern of genetic polymorphisms can enhance the selection of patients for primary preventive ICD implantation.

Main Methods:

  • Review of epidemiological studies linking hereditary factors to SCD risk.
  • Analysis of the role of genetic polymorphisms in arrhythmogenesis.
  • Proposal for utilizing individual "patterns" of genetic polymorphisms for risk assessment.

Main Results:

  • Epidemiological data suggest a hereditary component to sudden cardiac death (SCD).
  • Individual susceptibility to arrhythmogenic events may be influenced by genetic polymorphisms.
  • A personalized pattern of genetic polymorphisms could potentially refine SCD risk stratification.

Conclusions:

  • Genetic polymorphisms represent a promising area for developing novel tools in SCD risk stratification.
  • Assessing an individual's genetic polymorphism profile may lead to more accurate patient selection for primary preventive ICDs.
  • This approach could optimize ICD utilization and reduce SCD incidence in high-risk populations.