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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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Chemical Equilibria: Redefining Equilibrium Constant01:20

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Hydronium and hydroxide ions are present both in pure water and in all aqueous solutions, and their concentrations are inversely proportional as determined by the ion product of water (Kw). The concentrations of these ions in a solution are often critical determinants of the solution’s properties and the chemical behaviors of its other solutes. Two different solutions can differ in their hydronium or hydroxide ion concentrations by a million, billion, or even trillion times. A common means of...
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Diploid organisms inherit genetic material through chromosomes from both parents. Copies of the same gene are known as alleles. In most cases, both alleles are simultaneously expressed and allow various cellular processes to function optimally. If one of the alleles is missing or mutated, the expression of the other allele can compensate; however, this is not true for all genes.
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Redefining the IBDs using genome-scale molecular phenotyping.

Terrence S Furey1,2, Praveen Sethupathy3, Shehzad Z Sheikh4,5

  • 1Center for Gastrointestinal Biology and Disease, Department of Genetics, University of North Carolina, Chapel Hill, NC, USA. tsfurey@email.unc.edu.

Nature Reviews. Gastroenterology & Hepatology
|February 22, 2019
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Summary
This summary is machine-generated.

Inflammatory Bowel Diseases (IBDs), like Crohn's disease and ulcerative colitis, exhibit significant heterogeneity. Molecular profiling reveals distinct IBD subtypes, paving the way for personalized treatments and improved clinical trial design.

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Area of Science:

  • Gastroenterology and Immunology
  • Genetics and Molecular Biology
  • Personalized Medicine

Background:

  • Inflammatory Bowel Diseases (IBDs), including Crohn's disease and ulcerative colitis, are chronic gastrointestinal disorders.
  • These conditions arise from aberrant immune responses to gut microbiota in genetically susceptible individuals.
  • Current classifications inadequately predict disease progression and treatment response due to high heterogeneity.

Purpose of the Study:

  • To review recent advances in identifying molecularly distinct subtypes of IBD.
  • To explore the association between these subtypes and specific clinical phenotypes.
  • To highlight the potential of molecular phenotyping for advancing IBD understanding and management.

Main Methods:

  • Review of studies profiling genome-wide gene expression, epigenomic features, and gut microbiota.
  • Analysis of data from both adult and pediatric patient cohorts.
  • Integration of genetic association studies (GWAS) findings with molecular signatures.

Main Results:

  • Identification of distinct molecular signatures defining IBD subtypes, including within Crohn's disease and ulcerative colitis.
  • Association of certain molecular subtypes with specific clinical presentations and disease characteristics.
  • Over 240 risk loci for IBD identified, though mechanisms remain largely unknown.

Conclusions:

  • Genome-scale molecular phenotyping offers a powerful approach to understanding IBD's diverse molecular etiologies.
  • Subtyping IBD based on molecular profiles can improve clinical trial design.
  • This approach holds promise for developing personalized disease management and treatment strategies for IBD patients.