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Related Concept Videos

Pharmacogenomics: Identification of New Drug Targets01:29

Pharmacogenomics: Identification of New Drug Targets

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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...
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Pharmacogenetics and Pharmacogenomics: Overview01:29

Pharmacogenetics and Pharmacogenomics: Overview

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Pharmacogenetics and pharmacogenomics examine how genetic factors influence an individual's response to drugs. While pharmacogenetics focuses on the impact of specific genetic variants on drug effects, pharmacogenomics takes a broader approach, studying how genetic variation across populations contributes to differences in drug responses. These fields aim to explain why individuals may experience varying levels of efficacy or adverse reactions to the same medication.Variability in drug...
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Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu01:29

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

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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...
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Pharmacogenetics of Drug Metabolism: Overview01:27

Pharmacogenetics of Drug Metabolism: Overview

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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...
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Principles of Pharmacogenetics: Types of Genetic Variants01:27

Principles of Pharmacogenetics: Types of Genetic Variants

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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...
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Pharmacogenetics of Phase I Enzymes: Cytochrome P450 Isozymes01:28

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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...
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Deciphering next-generation pharmacogenomics: an information technology perspective.

George Potamias1, Kleanthi Lakiotaki1, Theodora Katsila2

  • 1Institute of Computer Science, Foundation for Research and Technology Hellas, Crete, Greece.

Open Biology
|July 18, 2014
PubMed
Summary
This summary is machine-generated.

Advancements in high-throughput sequencing and pharmacogenomics information systems enable personalized medicine. An integrated electronic assistant provides drug recommendations based on genotype-to-phenotype data for researchers and clinicians.

Keywords:
drug metabolismgene variantsinformatics solutionsmicroattributionpersonalized pharmacogenomics profilewhole-genome sequencing

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Area of Science:

  • Genomics
  • Bioinformatics
  • Translational Medicine

Background:

  • The post-genomic era demands advanced informatics tools for managing vast genetic research data.
  • High-throughput genotyping and sequencing technologies generate extensive genetic information.
  • Integrating genotype-to-phenotype data is crucial for translational medicine.

Purpose of the Study:

  • To discuss the impact of high-throughput and next-generation sequencing on pharmacogenomics research.
  • To present advances and challenges in pharmacogenomics information systems.
  • To introduce an integrated electronic pharmacogenomics assistant for personalized medicine.

Main Methods:

  • Review of high-throughput and next-generation sequencing technologies.
  • Development of pharmacogenomics information systems and databases.
  • Creation of an integrated electronic pharmacogenomics assistant.

Main Results:

  • Pharmacogenomics information systems are essential for personalized medicine, linking gene variants to drug response.
  • An integrated electronic pharmacogenomics assistant provides personalized drug recommendations.
  • The system supports researchers in identifying pharmacogenomics-related gene variants.

Conclusions:

  • Pharmacogenomics information systems are integral tools for researchers and medical practitioners.
  • Data sharing and protection are fundamental issues in pharmacogenomics research.
  • An integrated pharmacogenomics portal offers a single access point for personalized drug recommendations and research support.