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Translating molecular advances in Down syndrome and Fragile X syndrome into therapies

Down Syndrome and Other Genetic Developmental Disorders ECNP Network, Faundez, V., De Toma, I., Bardoni, B., Bartesaghi, R., Nizetic, D., de la Torre, R., Cohen Kadosh, R., Herault, Y., Dierssen, M. & Potier, M-C., Jun-2018, In : European Neuropsychopharmacology. 28, 6, p. 675-690 16 p.

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  • Translating molecular advances in Down syndrome and Fragile X syndrome into therapies

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DOI

  • Down Syndrome and Other Genetic Developmental Disorders ECNP Network
  • Victor Faundez
  • Ilario De Toma
  • Barbara Bardoni
  • Renata Bartesaghi
  • Dean Nizetic
  • Rafael de la Torre
  • Roi Cohen Kadosh
  • Yann Herault
  • Mara Dierssen
  • Marie-Claude Potier

Ongoing treatments for genetic developmental disorders of the central nervous system are mostly symptomatic and do not correct the genetic cause. Recent identification of common mechanisms between diseases has suggested that new therapeutic targets could be applied across intellectual disabilities with potential disease-modifying properties. The European Down syndrome and other genetic developmental disorders (DSG2D) network joined basic and clinical scientists to foster this research and carry out clinical trials. Here we discuss common mechanisms between several intellectual disabilities from genetic origin including Down's and Fragile X syndromes: i) how to model these complex diseases using neuronal cells and brain organoids derived from induced pluripotent stem cells; ii) how to integrate genomic, proteomic and interactome data to help defining common mechanisms and boundaries between diseases; iii) how to target common pathways for designing clinical trials and assessing their efficacy; iv) how to bring new neuro-therapies, such as noninvasive brain stimulations and cognitive training to clinical research. The basic and translational research efforts of the last years have utterly transformed our understanding of the molecular pathology of these diseases but much is left to be done to bring them to newborn babies and children to improve their quality of life.

Original languageEnglish
Pages (from-to)675-690
Number of pages16
JournalEuropean Neuropsychopharmacology
Volume28
Issue number6
Publication statusPublished - Jun-2018

    Keywords

  • MENTAL-RETARDATION PROTEIN, EMBRYONIC STEM-CELLS, DIRECT-CURRENT STIMULATION, TS65DN MOUSE MODEL, RANDOM NOISE STIMULATION, NONINVASIVE BRAIN-STIMULATION, TRANSCRANIAL ELECTRICAL-STIMULATION, MAGNETIC-RESONANCE-SPECTROSCOPY, NEURAL STEM/PROGENITOR CELLS, ALTERED SYNAPTIC PLASTICITY

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