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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 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...
Human Genetics01:28

Human Genetics

Human genetics provides a profound framework for understanding the interplay between genetic predispositions and human psychology. At the heart of this discipline lies the study of how genes influence physical traits, behaviors, and susceptibility to diseases. Each person carries a unique genetic code that subtly or significantly shapes their psychological and behavioral landscape.
The complex relationship between genetics and psychology is observable through common biological components such...
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...
Genetic Screens02:46

Genetic Screens

Genetic screens are tools used to identify genes and mutations responsible for phenotypes of interest. Genetic screens help identify individuals or a group of people at risk of developing  genetic diseases and help them with early intervention, targeted therapy, and reproductive options.
Forward genetic screens
Forward or “classical” genetic screens involve creating random mutations in an organism’s DNA using radiation, mutagens, or insertion of additional bases, which result in visible changes...
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...

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Related Experiment Video

Updated: May 9, 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

Validating therapeutic targets through human genetics.

Robert M Plenge1, Edward M Scolnick, David Altshuler

  • 1Division of Rheumatology, Immunology and Allergy, Brigham And Women's Hospital, Boston, Massachusetts 02115, USA. rplenge@partners.org

Nature Reviews. Drug Discovery
|July 23, 2013
PubMed
Summary
This summary is machine-generated.

Human genetics offers a powerful approach to predict drug efficacy and toxicity by studying natural genetic variations. This method helps prioritize molecular targets in drug development, improving success rates.

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Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
05:53

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry

Published on: June 21, 2018

Area of Science:

  • Pharmacology
  • Human Genetics
  • Drug Development

Background:

  • High failure rates in clinical trials stem from inadequate preclinical models and limited understanding of long-term target perturbation effects in humans.
  • Human genetic variations, or 'experiments of nature,' provide insights into target-specific outcomes.
  • These natural variations can inform the probable efficacy and toxicity of drugs targeting specific proteins.

Purpose of the Study:

  • To introduce the concept of dose-response curves derived from human genetic data.
  • To highlight human genetics as a tool for prioritizing molecular targets in drug discovery.
  • To discuss the application of human genetics in target validation for drug development.

Main Methods:

  • Utilizing naturally occurring human mutations as 'experiments of nature' to assess target effects.
  • Analyzing dose-response relationships from genetic variations.
  • Reviewing empirical examples of drug-gene interactions.

Main Results:

  • Human genetics can establish causal relationships between targets and outcomes, moving beyond reactive observations.
  • Genetic data supports the validation of therapeutic hypotheses early in the drug discovery pipeline.
  • Objective criteria for prioritizing genetic findings in drug discovery are presented.

Conclusions:

  • Human genetics serves as a valuable tool for target validation and prioritizing drug development efforts.
  • This approach can improve the predictive value of preclinical studies and reduce clinical trial failures.
  • Limitations of a genetics-anchored target validation strategy are acknowledged.