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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...
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,...
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...

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Related Experiment Video

Updated: Jun 26, 2026

Point-of-care CRISPR-based Diagnostics with Premixed and Freeze-dried Reagents
10:16

Point-of-care CRISPR-based Diagnostics with Premixed and Freeze-dried Reagents

Published on: August 16, 2024

CRISPR-Based Assay for Point-of-Care Pharmacogenetic CYP2C19 Genotyping.

Alexander J Schubert1,2,3, Qiyao Meng1,2, Joshua Hoffmann1,2

  • 1Berlin Institute for Medical Systems Biology, Max Delbrück Center for Molecular Medicine in the Helmholtz Association, Berlin 10115, Germany.

ACS Sensors
|June 25, 2026
PubMed
Summary

A new CRISPR-based test rapidly genotypes key CYP2C19 gene variants for personalized drug dosing. This accurate pharmacogenetic testing approach offers faster results, potentially improving drug efficacy and reducing side effects.

Keywords:
CRISPR-based diagnosticsCYP2C19 genotypingLbaCas12aLwaCas13aclopidogrelisothermal amplificationmavacamtenmulti-analyte lateral-flow readout

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Using a Fluorescent PCR-capillary Gel Electrophoresis Technique to Genotype CRISPR/Cas9-mediated Knockout Mutants in a High-throughput Format

Published on: April 8, 2017

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Last Updated: Jun 26, 2026

Point-of-care CRISPR-based Diagnostics with Premixed and Freeze-dried Reagents
10:16

Point-of-care CRISPR-based Diagnostics with Premixed and Freeze-dried Reagents

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Using a Fluorescent PCR-capillary Gel Electrophoresis Technique to Genotype CRISPR/Cas9-mediated Knockout Mutants in a High-throughput Format
08:25

Using a Fluorescent PCR-capillary Gel Electrophoresis Technique to Genotype CRISPR/Cas9-mediated Knockout Mutants in a High-throughput Format

Published on: April 8, 2017

Area of Science:

  • Biotechnology
  • Molecular Diagnostics
  • Pharmacogenetics

Background:

  • Pharmacogenetic testing guides personalized drug dosing by analyzing genetic variations in drug metabolism.
  • Current genotyping methods have slow turnaround times and are not suitable for point-of-care use, limiting clinical implementation.

Purpose of the Study:

  • To develop and validate a rapid, multiplexed CRISPR-based assay for genotyping critical CYP2C19 polymorphisms (*2, *3, and *17).
  • To assess the assay's accuracy and performance in a clinical cohort compared to Sanger sequencing.

Main Methods:

  • Utilized a CRISPR-based assay combining isothermal amplification with dual guide RNA detection (LwaCas13a for mutant alleles, LbaCas12a for wild-type alleles).
  • Validated the assay on 110 participants, comparing results against Sanger sequencing.
  • Supported both column-based and simplified crude DNA extraction protocols.
  • Offered fluorescence or lateral-flow readouts for genotype interpretation.

Main Results:

  • The CRISPR assay demonstrated high concordance with Sanger sequencing.
  • Achieved high variant-specific accuracies: 97.3% for *2, 100% for *3, and 99.1% for *17.
  • Showcased robust performance across a diverse clinical cohort.

Conclusions:

  • CRISPR-based genotyping provides accurate CYP2C19 pharmacogenetic testing, supporting wider adoption of genotype-guided drug dosing.
  • The assay's speed and adaptability make it suitable for broader clinical application and potential adaptation for other pharmacogenetic targets.