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Related Concept Videos

Autoimmune Disorders01:29

Autoimmune Disorders

Autoimmune diseases are a group of disorders in which the body's immune system mistakenly attacks its own cells, tissues, and organs. This results from an overactive immune response against substances and tissues normally present in the body. Let's delve into the concept and mechanism of autoimmune diseases from an immune system point of view, explore different causes and examples of such diseases, and discuss potential solutions.
Concept and Mechanism of Autoimmune Diseases
The immune system...
Inflammatory Response01:28

Inflammatory Response

An inflammatory response is a localized, nonspecific immune reaction that occurs when a tissue is injured. It is characterized by redness, swelling, heat, and pain, which are commonly called the cardinal signs and symptoms of inflammation. Inflammation can sometimes result in a loss of function.
Inflammation can be triggered by various stimuli, such as impact, abrasion, chemical irritation, infections, and extreme hot or cold temperatures. These can damage cells and connective tissue fibers,...
Inflammatory Bowel Disease III: Crohn's Disease01:25

Inflammatory Bowel Disease III: Crohn's Disease

Crohn’s disease is a chronic, relapsing form of inflammatory bowel disease characterized by segmental, transmural inflammation that can affect any part of the gastrointestinal tract. Its pathogenesis arises from a combination of genetic susceptibility, environmental exposures, epithelial barrier dysfunction, and immune dysregulation. Together, these factors lead to an exaggerated immune response against components of the gut microbiome.Genetic and Environmental InfluencesMultiple genetic...
NF-κB-dependent Signaling Pathway02:26

NF-κB-dependent Signaling Pathway

The transcription factor NF-κB was discovered in 1986 in the lab of Nobel laureate Professor David Baltimore, for its interaction with the immunoglobulin light chain enhancer in B-cells. After more than three decades of study, it is now evident that NF-κB regulates the expression of over 100 genes. Most of these genes play an essential role in the innate and adaptive immune responses as well as the inflammatory responses of animals.
NF-κB-dependent Signaling Mechanism
The heterodimer of NF-κB...
Inflammation: Introduction01:28

Inflammation: Introduction

Inflammation is a fundamental, protective biological response of vascularized tissues to cellular injury, infection, or harmful stimuli. Its primary function is to eliminate the initial cause of injury, clear necrotic cells and damaged tissue, and initiate the necessary repair processes.Cardinal SignsAcute inflammation presents with classic signs. Redness results from vasodilation and increased blood flow. Heat is due to increased metabolism and circulation. Swelling results from the...
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...

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Related Experiment Video

Updated: May 7, 2026

Induction of Ocular Surface Inflammation and Collection of Involved Tissues
06:38

Induction of Ocular Surface Inflammation and Collection of Involved Tissues

Published on: August 4, 2022

Gene hunting in autoinflammation.

Ariane Standing1, Ebun Omoyinmi, Paul Brogan

  • 1Institute of Child Health, UCL, 30 Guilford Street, London WC1N 1EH, UK. ariane.standing@ucl.ac.uk.

Clinical and Translational Allergy
|September 28, 2013
PubMed
Summary

Over 16 years, 18 genes for monogenic autoinflammatory diseases have been identified using advanced genetic mapping and next-generation sequencing. This review details gene discovery methods for Mendelian disorders.

Area of Science:

  • Genetics
  • Immunology
  • Molecular Biology

Background:

  • Autoinflammatory diseases are genetic disorders characterized by inappropriate inflammation.
  • Significant advancements in understanding their genetic underpinnings have occurred over the last 16 years.
  • The discovery of the Familial Mediterranean Fever gene (MEFV) in 1997 marked a turning point.

Purpose of the Study:

  • To review gene hunting approaches used in identifying monogenic autoinflammatory disease genes.
  • To describe data analysis methods and technological platforms relevant to gene discovery.
  • To provide a resource for researchers in the field of Mendelian disorder gene discovery.

Main Methods:

  • Utilisation of various genetic mapping techniques.
  • Application of next-generation sequencing (NGS) platforms.

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  • Comprehensive review of published gene discovery studies.

    • Main Results:

    • Identification of 18 additional genes responsible for monogenic autoinflammatory diseases since 1997.
    • Demonstration of the effectiveness of modern genetic techniques in identifying disease-causing genes.
    • Consolidation of knowledge on gene discovery methodologies.

    Conclusions:

    • The field of monogenic autoinflammatory disease genetics has progressed substantially.
    • Advanced genetic technologies have been crucial for recent gene discoveries.
    • This review synthesizes key methodologies for future gene discovery efforts in rare genetic disorders.