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Contents:
  1. Epigenetics in Human Disease
  2. Epigenetic Influences and Disease
  3. Epigenetics in Human Disease : Trygve Tollefsbol :

Epigenetic gene regulation collaborates with genetic alterations in cancer development.


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The study of epigenetic principles and mechanisms as applied to human development, disease, diagnosis, and treatment. DNA methylation measurement in a cell, it may also be useful in improving early detection by measuring tumor DNA released into the blood.

Molecular biomarkers are used routinely in a clinical setting to assess the medical state of patients and in several other medical contexts, including clinical trial endpoints, pharmaceutical development, and basic science research. The clinical validation of epigenetic biomarkers to allow the accurate prediction of the outcome of cancer patients and their potential chemosensitivity to current pharmacological treatments.


  • Epigenetics and Human Disease.
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A clinical example of a biomarker is plasma glucose. Epigenetic therapy is a relatively new treatment that is related to gene therapy, as the treatment looks at changes in the DNA. However, unlike gene therapy, which works to alter the DNA sequence, epigenetic therapy focuses on changes in DNA expression. The understanding of the contribution of epigenetic changes to rare diseases provides useful principles for other common and complex disorders such as cancer, cardiovascular, type 2 diabetes, obesity, and neurological diseases and will hopefully provide us with better molecular tools for improved diagnosis, prognosis, and therapy for the patients in the future.

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Epigenetics in Human Disease

Track 1: Cancer Epigenetics. The completion of the Human Genome Project has advanced our understanding of the biological processes involved in health and disease.

The increasing amount of whole-genome sequencing data becoming available from healthy and affected individuals has pinpointed variations in the DNA sequence, like single-nucleotide polymorphisms SNPs , that may help to explain differences in phenotype, as well as in disease susceptibility and resistance. On the other hand, it is becoming increasingly apparent that the DNA-stored information alone cannot be the sole determinant of human variation and disease.

Epigenetic Influences and Disease

The epigenome shows far greater plasticity than the genome and contributes significantly to development and differentiation by responding to environmental stimuli. In this chapter, we describe known epigenetic mechanisms and discuss the aberrant epigenetic patterns that characterize several human diseases.

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Epigenetics in Human Disease : Trygve Tollefsbol :

Berdasco M, Esteller M Aberrant epigenetic landscape in cancer: how cellular identity goes awry. Berger SL The complex language of chromatin regulation during transcription.

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Eapen V Genetic basis of autism: is there a way forward? Esteller M Epigenetics in cancer.