Lecture

Pharmacogenetics: Drug Response and Genetic Variability

Graph Chat

Chat with Graph Search

Ask any question about EPFL courses, lectures, exercises, research, news, etc. or try the example questions below.

DISCLAIMER: The Graph Chatbot is not programmed to provide explicit or categorical answers to your questions. Rather, it transforms your questions into API requests that are distributed across the various IT services officially administered by EPFL. Its purpose is solely to collect and recommend relevant references to content that you can explore to help you answer your questions.

Description

This lecture explores the field of pharmacogenetics, focusing on how an individual's genetic profile influences their response to medical treatments. It covers candidate genes involved in pharmacogenetics, such as those affecting drug metabolism and plasma protein binding. The lecture delves into the impact of genetic polymorphisms on drug metabolism enzymes, like CYP2D6, and their role in drug response variability. Additionally, it discusses the genetic aspects of drug transporters and their influence on drug uptake and excretion. The presentation also includes case studies on the effects of genetic variations in metabolizing enzymes on drug efficacy and toxicity.

Official source

Ontological neighbourhood

Biology

Genetics: Population genetics

Related concepts (32)

Pharmacogenomics

Pharmacogenomics is the study of the role of the genome in drug response. Its name (pharmaco- + genomics) reflects its combining of pharmacology and genomics. Pharmacogenomics analyzes how the genetic makeup of a patient affects their response to drugs. It deals with the influence of acquired and inherited genetic variation on drug response, by correlating DNA mutations (including single-nucleotide polymorphisms, copy number variations, and insertions/deletions) with pharmacokinetic (drug absorption, distribution, metabolism, and elimination), pharmacodynamic (effects mediated through a drug's biological targets), and/or immunogenic endpoints.

Metabolism

Metabolism (məˈtæbəlɪzəm, from μεταβολή metabolē, "change") is the set of life-sustaining chemical reactions in organisms. The three main functions of metabolism are: the conversion of the energy in food to energy available to run cellular processes; the conversion of food to building blocks for proteins, lipids, nucleic acids, and some carbohydrates; and the elimination of metabolic wastes. These enzyme-catalyzed reactions allow organisms to grow and reproduce, maintain their structures, and respond to their environments.

Genetic variation

Genetic variation is the difference in DNA among individuals or the differences between populations among the same species. The multiple sources of genetic variation include mutation and genetic recombination. Mutations are the ultimate sources of genetic variation, but other mechanisms, such as genetic drift, contribute to it, as well. Genetic variation can be identified at many levels. Identifying genetic variation is possible from observations of phenotypic variation in either quantitative traits (traits that vary continuously and are coded for by many genes (e.

Genetic variability

Genetic variability is either the presence of, or the generation of, genetic differences. It is defined as "the formation of individuals differing in genotype, or the presence of genotypically different individuals, in contrast to environmentally induced differences which, as a rule, cause only temporary, nonheritable changes of the phenotype". Genetic variability in a population is important for biodiversity. There are many sources of genetic variability in a population: Homologous recombination is a significant source of variability.

Polymorphism (biology)

In biology, polymorphism is the occurrence of two or more clearly different morphs or forms, also referred to as alternative phenotypes, in the population of a species. To be classified as such, morphs must occupy the same habitat at the same time and belong to a panmictic population (one with random mating). Put simply, polymorphism is when there are two or more possibilities of a trait on a gene. For example, there is more than one possible trait in terms of a jaguar's skin colouring; they can be light morph or dark morph.

Related lectures (64)

Drug Metabolism: Xenobiotics and Enzymes

Explores drug metabolism, focusing on xenobiotics, enzymes, biotransformation reactions, and factors affecting drug metabolism.

Personalized Medicine: Genetic Variability and Drug Response

Explores personalized medicine, genetic variability, and drug response, emphasizing tailoring treatments based on individual genetic and metabolic profiles.

Genetic Linkage and Association Studies

Explores genetic linkage, association studies, polymorphisms, and LD in genetic mapping.

Genome-wide Association Studies

Explores Genome-wide Association Studies, focusing on identifying genetic variants associated with diseases and the impact on personalized medicine.

Drug-Induced Liver Injury: Mitigation Strategies