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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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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...
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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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Enzyme-linked receptors are cell-surface receptors acting as an enzyme or associating with an enzyme intracellularly. They make excellent drug targets. Drugs can bind to the extracellular ligand-binding domain or directly affect their enzymatic domain and alter their activity.
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Rethinking pheochromocytomas and paragangliomas from a genomic perspective.

L J Castro-Vega1,2, C Lepoutre-Lussey1,2, A-P Gimenez-Roqueplo1,2,3

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Pheochromocytomas (PCC) and paragangliomas (PGL) are rare tumors driven by genetic mutations. Genomic and epigenomic alterations are key to understanding PCC/PGL development and advancing precision medicine.

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Area of Science:

  • Endocrinology
  • Oncology
  • Genetics

Background:

  • Pheochromocytomas (PCC) and paragangliomas (PGL) are rare neuroendocrine tumors originating from the neural crest.
  • Germline or somatic mutations in susceptibility genes cause up to 70% of PCC/PGL cases.

Purpose of the Study:

  • To review the genomic landscape of PCC/PGL.
  • To explore the functional consequences of genomic alterations in tumorigenesis and progression.
  • To discuss the clinical relevance for precision medicine.

Main Methods:

  • High-throughput technologies for genomic alteration characterization.
  • Integrated genomic analyses correlating mutation status with multi-omics data.

Main Results:

  • Genomic alterations are crucial in distinguishing PCC/PGL subtypes.
  • Mutation status of susceptibility genes correlates strongly with multi-omics data.
  • Functional interdependence between genomic and epigenomic alterations is evident.

Conclusions:

  • Long-standing susceptibility genes are primary drivers of PCC/PGL.
  • Understanding the genomic landscape facilitates precision medicine approaches for PCC/PGL patients.