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

摘要: Neurodevelopmental disorders represent a challenging biological and medical problem due to their genetic 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 clinical trial design is reliable molecular biomarkers. Presently, no objective markers exist evaluate most neurodevelopmental disorders. Here, discuss how systems biology "omic" approaches can address biomarker limitations in these afflictions. We present heuristic principles testing potential identify biomarkers example Rett syndrome, disorder caused by well-defined monogenic defect methyl-CpG-binding protein 2 (MECP2). propose such an approach not only aid monitoring severity but also provide measure target engagement trials. By deepening our "big picture" biology, this even help generate hypotheses drug development programs, hopefully resulting new treatments devastating conditions.