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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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Genome-wide Association Studies-GWAS01:11

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Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
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Genomics02:02

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Genomics is the science of genomes: it is the study of all the genetic material of an organism. In humans, the genome consists of information carried in 23 pairs of chromosomes in the nucleus, as well as mitochondrial DNA. In genomics, both coding and non-coding DNA is sequenced and analyzed. Genomics allows a better understanding of all living things, their evolution, and their diversity. It has a myriad of uses: for example, to build phylogenetic trees, to improve productivity and...
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Cystic fibrosis (CF), an autosomal recessive disorder, significantly affects the function of exocrine glands. This genetically inherited disease is characterized by the production of thick and sticky mucus, which can severely affect various organs and systems in the body.
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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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Human Genetics01:28

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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.
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Related Experiment Video

Updated: Mar 24, 2026

Recognition of Epidermal Transglutaminase by IgA and Tissue Transglutaminase 2 Antibodies in a Rare Case of Rhesus Dermatitis
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Understanding Celiac Disease by Genomics.

Sebo Withoff1, Yang Li1, Iris Jonkers1

  • 1University of Groningen, University Medical Center Groningen, Department of Genetics, Groningen, The Netherlands.

Trends in Genetics : TIG
|March 15, 2016
PubMed
Summary
This summary is machine-generated.

Understanding the non-coding genome is key to deciphering celiac disease (CeD) genetics. Investigating regulatory elements and epigenomics will reveal cell types and genes involved in CeD pathogenesis.

Keywords:
autoimmune diseaseceliac diseasecomplex geneticsenhancerepigeneticsnon-coding genome

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Area of Science:

  • Genetics
  • Immunology
  • Genomics

Background:

  • Celiac disease (CeD) is an immune-mediated condition with a significant genetic component.
  • Genetic studies identified 43 predisposing loci, explaining about 50% of CeD's genetic variance.
  • Over 90% of CeD-associated SNPs are in the non-coding genome, highlighting a knowledge gap.

Purpose of the Study:

  • To explore the functional significance of non-coding genetic variants in CeD.
  • To leverage new genomic technologies for analyzing the non-coding genome.
  • To understand how regulatory and epigenomic landscapes contribute to CeD.

Main Methods:

  • Systematic analysis of functional elements in the non-coding genome.
  • Investigating the regulatory landscape.
  • Examining the epigenomic landscape.

Main Results:

  • The study focuses on explaining how these investigations will yield results.
  • It outlines the approach to pinpointing cell types involved in CeD.
  • It details how driver genes and networks affected by SNPs will be identified.

Conclusions:

  • Understanding the non-coding genome's regulatory and epigenomic aspects is crucial for CeD research.
  • This approach will help translate genetic findings into clinical applications.
  • Identifying involved cell types and gene networks will advance CeD pathogenesis understanding.