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Related Concept Videos

Pharmacogenetics and Pharmacogenomics: Overview01:29

Pharmacogenetics and Pharmacogenomics: Overview

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...
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...
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...
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 Transporters: P-Glycoprotein and Solute Carrier Transporters01:16

Pharmacogenetics of Drug Transporters: P-Glycoprotein and Solute Carrier Transporters

The pharmacogenetics of drug transporters is increasingly recognized as a critical factor influencing interindividual variability in drug absorption, distribution, and elimination. These membrane-bound proteins regulate drugs' movement across cellular barriers by actively pumping them out (efflux) or facilitating their uptake (influx). Among the major transporter families, ATP-binding cassette (ABC) and solute carrier (SLC) transporters play particularly prominent roles. Genetic polymorphisms...

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Using Human Differentially Expressed Gene Lists to Perform Downstream Pathway Enrichment Analysis and Target Prioritization
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Pharmacogenomics and bioinformatics: PharmGKB.

Caroline F Thorn1, Teri E Klein, Russ B Altman

  • 1Department of Genetics, Stanford University Medical Center, Stanford, CA 94305-5120, USA.

Pharmacogenomics
|March 31, 2010
PubMed
Summary

The Pharmacogenomics Knowledgebase (PharmGKB) has evolved to curate complex gene-drug-disease relationships. It now focuses on knowledge curation to support advanced pharmacogenomics research and clinical applications.

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Area of Science:

  • Pharmacogenomics
  • Genetics
  • Drug Discovery

Background:

  • The NIH established PharmGKB in 2000 to store pharmacogenetic data.
  • Technological advancements shifted research towards phenotype-based pharmacogenomics, increasing data volume.
  • PharmGKB adapted by focusing on knowledge curation over raw data storage.

Purpose of the Study:

  • To track associations between genes and drugs.
  • To catalog genetic variations impacting drug response.
  • To capture complex relationships between genes, variants, drugs, diseases, and pathways.

Main Methods:

  • Repository creation for primary data.
  • Development of tools for gene-drug association tracking.
  • Cataloging genetic variations and their frequencies.
  • Refocusing on knowledge curation and complex relationship mapping.

Main Results:

  • PharmGKB has evolved from a data repository to a curated knowledge base.
  • The platform now captures intricate connections within pharmacogenomics.
  • It supports the shift towards phenotype-based pharmacogenomics.

Conclusions:

  • PharmGKB is adapting to the explosion of pharmacogenomic data.
  • Future efforts will focus on tools for genome-wide studies and predicting gene-drug interactions.
  • The goal is to support clinical applications and data-sharing consortia.