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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...
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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...
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.
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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...
Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

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.
GWAS does not require the identification of the target gene involved in...
Genetic Lingo01:11

Genetic Lingo

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An Automated Squint Method for Time-syncing Behavior and Brain Dynamics in Mouse Pain Studies
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Future possibilities in migraine genetics.

Laura Aviaja Rudkjobing1, Ann-Louise Esserlind, Jes Olesen

  • 1Danish Headache Center, Glostrup Hospital, Glostrup, Denmark. laurar@sund.ku.dk

The Journal of Headache and Pain
|September 8, 2012
PubMed
Summary

Next-generation sequencing (NGS) offers promising avenues for uncovering rare genetic variants in migraine. As costs decrease, NGS will likely reveal new migraine risk factors and biological insights.

Area of Science:

  • Genetics
  • Neurology
  • Genomics

Background:

  • Migraine with and without aura (MA and MO) possess a significant genetic component.
  • Previous genetic studies (linkage, candidate gene, GWAS) have yielded limited success, suggesting rare variants may be key.
  • Next-generation sequencing (NGS) excels at identifying genes in monogenic disorders and holds potential for complex traits like migraine.

Purpose of the Study:

  • To explore the future potential of NGS in identifying migraine-associated genes.
  • To review NGS applications in other complex diseases and gather expert opinions on optimal strategies for migraine genetics.

Main Methods:

  • Review of existing NGS studies in other complex diseases.
  • Interviews with three experts in genetics and complex traits.

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  • Analysis of expert recommendations based on variant effect size and frequency.

    • Main Results:

    • NGS approaches are expected to become more applicable for discovering migraine genes.
    • Optimal NGS strategy (e.g., whole exome vs. whole genome sequencing) depends on variant characteristics (rare/common, effect size).
    • High costs and data analysis challenges currently limit large-scale NGS application in migraine genetics.

    Conclusions:

    • Decreasing costs of NGS technologies (exome/genome sequencing, GWAS chips) will facilitate larger-scale studies.
    • Future NGS studies have the potential to uncover novel migraine risk variants.
    • These discoveries could provide unprecedented biological insights into migraine pathophysiology.