Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

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 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...
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 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...

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

The ionizing zwitterionic oxime antidote attenuates gliosis in mice exposed to sarin.

Chemico-biological interactions·2025
Same author

RS194B oxime mediated AChE-reactivation and protection in lethal sarin and insecticide organophosphate exposed macaques is accompanied by oxime-independent BChE increases; likely a result of liver damage.

Chemico-biological interactions·2025
Same author

Click-chemistry-derived oxime library reveals efficient reactivators of nerve agent-inhibited butyrylcholinesterase suitable for pseudo-catalytic bioscavenging.

Archives of toxicology·2025
Same author

The Cyclic Imine Core Common to the Marine Macrocyclic Toxins Is Sufficient to Dictate Nicotinic Acetylcholine Receptor Antagonism.

Marine drugs·2024
Same author

A single post-exposure oxime RS194B treatment rapidly reactivates acetylcholinesterase and reverses acute symptoms in macaques exposed to diethylphosphorothioate parathion and chlorpyrifos insecticides.

Journal of neurochemistry·2023
Same author

Differential Activation and Desensitization States Promoted by Noncanonical <i>α</i>7 Nicotinic Acetylcholine Receptor Agonists.

The Journal of pharmacology and experimental therapeutics·2022

Related Experiment Video

Updated: May 21, 2026

Genetic Profiling and Genome-Scale Dropout Screening to Identify Therapeutic Targets in Mouse Models of Malignant Peripheral Nerve Sheath Tumor
09:33

Genetic Profiling and Genome-Scale Dropout Screening to Identify Therapeutic Targets in Mouse Models of Malignant Peripheral Nerve Sheath Tumor

Published on: August 25, 2023

Pharmacogenomics: mapping monogenic mutations to direct therapy.

Palmer Taylor

    The Journal of Clinical Investigation
    |June 26, 2012
    PubMed
    Summary

    Researchers identified new mutations in the nicotinic acetylcholine receptor alpha subunit linked to myasthenia gravis. This molecular mapping advances understanding of monogenic congenital disorders and guides personalized therapeutic strategies.

    Area of Science:

    • Neuroscience
    • Genetics
    • Pharmacology

    Background:

    • Congenital disorders of monogenic origin require detailed molecular understanding for effective treatment.
    • Identifying specific gene mutations is crucial for developing targeted therapies.
    • Myasthenia gravis is a neuromuscular disorder with diverse genetic underpinnings.

    Purpose of the Study:

    • To investigate the molecular basis of myasthenia gravis by identifying novel mutations.
    • To demonstrate how molecular mapping can inform mutation-specific therapeutic approaches.
    • To explore the role of nicotinic acetylcholine receptor subunits in congenital neuromuscular disorders.

    Main Methods:

    • Genotyping of patients with congenital myasthenia gravis.
    • Molecular characterization of identified mutations in the nicotinic receptor alpha subunit.

    More Related Videos

    In Vivo Modeling of the Morbid Human Genome using Danio rerio
    12:31

    In Vivo Modeling of the Morbid Human Genome using Danio rerio

    Published on: August 24, 2013

    Related Experiment Videos

    Last Updated: May 21, 2026

    Genetic Profiling and Genome-Scale Dropout Screening to Identify Therapeutic Targets in Mouse Models of Malignant Peripheral Nerve Sheath Tumor
    09:33

    Genetic Profiling and Genome-Scale Dropout Screening to Identify Therapeutic Targets in Mouse Models of Malignant Peripheral Nerve Sheath Tumor

    Published on: August 25, 2023

    In Vivo Modeling of the Morbid Human Genome using Danio rerio
    12:31

    In Vivo Modeling of the Morbid Human Genome using Danio rerio

    Published on: August 24, 2013

  • Functional studies (biochemical or electrophysiological) to assess mutant protein behavior.

    • Main Results:

    • Discovery of novel mutations in the alpha subunit of the nicotinic acetylcholine receptor.
    • Demonstration of a link between these specific mutations and myasthenia gravis.
    • Establishment of a framework for correlating genotype with protein dysfunction.

    Conclusions:

    • Molecular mapping of mutations provides critical insights into congenital disorders.
    • Personalized therapies can be developed based on specific mutations and protein sequences.
    • This approach offers a pathway for understanding and treating genetic forms of myasthenia gravis.