Publication

Molecular Systems Biology of Neurodevelopmental Disorders, Rett Syndrome as an Archetype

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Last modified
  • 05/21/2025
Type of Material
Authors
    Victor Faundez, Emory UniversityMeghan Wynne, Emory UniversityAmanda Crocker, Middlebury CollegeDaniel Tarquinio, Emory University
Language
  • English
Date
  • 2019-07-17
Publisher
  • Frontiers Media
Publication Version
Copyright Statement
  • © 2019 Faundez, Wynne, Crocker and Tarquinio.
Final Published Version (URL)
Title of Journal or Parent Work
ISSN
  • 1662-5145
Volume
  • 13
Start Page
  • 30
End Page
  • 30
Grant/Funding Information
  • MW is supported by the NIH Training Grant T32 GM08605.
  • VF is supported by grants from the Rett Syndrome Research Trust and NIH 1R56MH111459. DT is supported by grants from the Rett Syndrome Research Trust.
  • AC is supported by an Institutional Development Award (IDeA) from the National Institute of General Medicine of the National Institutes of Health under grant number P20GM103449.
Abstract
  • Neurodevelopmental disorders represent a challenging biological and medical problem due to their genetic and phenotypic complexity. In many cases, we lack the comprehensive understanding of disease mechanisms necessary for targeted therapeutic development. One key component that could improve both mechanistic understanding and clinical trial design is reliable molecular biomarkers. Presently, no objective biological markers exist to evaluate most neurodevelopmental disorders. Here, we discuss how systems biology and “omic” approaches can address the mechanistic and biomarker limitations in these afflictions. We present heuristic principles for testing the potential of systems biology to identify mechanisms and biomarkers of disease in the example of Rett syndrome, a neurodevelopmental disorder caused by a well-defined monogenic defect in methyl-CpG-binding protein 2 (MECP2). We propose that such an approach can not only aid in monitoring clinical disease severity but also provide a measure of target engagement in clinical trials. By deepening our understanding of the “big picture” of systems biology, this approach could even help generate hypotheses for drug development programs, hopefully resulting in new treatments for these devastating conditions.
Author Notes
Keywords
Research Categories
  • Biology, Neuroscience
  • Biology, Cell

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