Methods and Molecular Biomarkers for Common Diseases

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Unmet Need:
The "epigenome" is an equivalent to the word "genome", and refers to the overall epigenetic state of a cell.  It is an associated set of biochemical reactions that turn genes on and off, are affected by the environment, are passed down through cell generations, but do not cause changes in genetic sequences.  Epigenetic changes are now known to be the direct cause of some diseases and as such, drugs are being developed that target these changes.  Therefore, the epigenome/epigenetics represents the key and thus far missing link between genetics, disease and the environment that is generally thought to play an important role in the cause of most human diseases.  By mapping the epigenome and connecting it with genomic and health information, researchers will be able to develop new methods to predict, diagnose and treat disease on a personalized level.  Specifically, there is a need in personalized medicine to detect disease early and predict how an individual would respond to drugs.
Technical Overview:
In an effort to resolve the relationship between evolution, developmental biology, and epigenetics, JHU and Icelandic Heart Association researchers have developed methods and molecular biomarkers related to variable methylated regions (VMRs) and their association with disease risk. An unbiased genome-scale, gene-specific analysis of DNA methylation in 74 individuals over time was performed to identify a personalized epigenomic signature that correlates with common genetic disease.  227 regions were found that showed extreme inter-individual variability [variably methylated regions (VMRs)] across the genome.  These regions are enriched for developmental genes indicating a role for epigentic regulation in development. Furthermore, half of these VMRs were stable within individuals over an average of 11 years, and these VMRs defined a personalized epigenomic signature. Four of these VMRs showed covariation with body mass index consistently at two study visits and were located in or near genes previously implicated in regulating body weight or diabetes. This work outlines an epigenetic strategy for identifying patients at risk of common disease.
Advantages include:
  • Epigenetic methods to diagnose, and predict risk of common diseases
  • Newly identified molecular biomarkers and therapeutic targets for common disease
    • Obesity related disorders
  • Novel gene targets available for the development of lead compounds for the treatment of disease
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Nakisha Holder
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