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Related Concept Videos

Autoimmune Disorders01:29

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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.
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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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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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Functional genomics in autoimmune diseases.

James Ding1, Antonios Frantzeskos1, Gisela Orozco1,2

  • 1Centre for Genetics and Genomics Versus Arthritis, Division of Musculoskeletal and Dermatological Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, The University of Manchester, Manchester M13 9LJ, UK.

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Summary
This summary is machine-generated.

Understanding autoimmune disease genetics requires identifying causal variants and their downstream effects. Functional genomics integrates diverse data to reveal gene targets and pathways, improving disease etiology insights.

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Area of Science:

  • Genomics
  • Immunology
  • Molecular Biology

Background:

  • Genetic associations with autoimmune diseases are known, but mechanistic insights are lacking.
  • Identifying causal variants and their downstream effects is crucial for patient benefit.
  • Most risk loci affect non-coding regulatory elements, necessitating identification of target genes and pathways.

Purpose of the Study:

  • To review recent advances in functional genomics for autoimmune diseases.
  • To highlight novel techniques and datasets for understanding autoimmune disease etiology.
  • To emphasize the integration of multi-omics data for a comprehensive view.

Main Methods:

  • Review of recent literature in autoimmune disease functional genomics.
  • Discussion of techniques including transcription analysis, regulatory activity, chromatin accessibility, and conformation.
  • Integration of functional experimental readouts like genome editing and reporter assays.

Main Results:

  • Functional genomics approaches are essential for pinpointing causal variants and their effects.
  • Consolidating diverse data types (genomics, epigenomics, functional assays) provides a more accurate picture.
  • Studying disease-relevant cell types and conditions is critical for understanding etiology.

Conclusions:

  • Advances in functional genomics are crucial for translating genetic findings into clinical applications for autoimmune diseases.
  • Integrating multi-modal data is key to deciphering the functional impact of genetic variants.
  • Future research should focus on disease-relevant contexts to improve understanding and treatment.