dc.contributor.author | Faundez, V | en_US |
dc.contributor.author | De Toma, I | en_US |
dc.contributor.author | Bardoni, B | en_US |
dc.contributor.author | Bartesaghi, R | en_US |
dc.contributor.author | Nizetic, D | en_US |
dc.contributor.author | de la Torre, R | en_US |
dc.contributor.author | Cohen Kadosh, R | en_US |
dc.contributor.author | Herault, Y | en_US |
dc.contributor.author | Dierssen, M | en_US |
dc.contributor.author | Potier, M-C | en_US |
dc.contributor.author | Down Syndrome and Other Genetic Developmental Disorders ECNP Network | en_US |
dc.date.accessioned | 2020-01-23T13:11:38Z | |
dc.date.available | 2018-03-12 | en_US |
dc.date.issued | 2018-06 | en_US |
dc.identifier.uri | https://qmro.qmul.ac.uk/xmlui/handle/123456789/62509 | |
dc.description.abstract | 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. | en_US |
dc.description.sponsorship | Funding for this review was provided by the program ‘Investissements d'avenir’ ANR-10-IAIHU-06, ANR-10-IDEX-0002-02, ANR-10-LABX-0030-INRT, ANR-10-INBS-07 PHENOMIN, by the “Fondation Jerome Lejeune”, “Fondazione Generali e Assicurazione Generali”, “Fondazione del Monte”, grants from DIUE de la Generalitat de Catalunya (2014SGR 680) and Spanish Ministry of Economy (SAF2016-79956-R), by the Emory Catalyst Award and from the National Institutes of Health NS088503. | en_US |
dc.format.extent | 675 - 690 | en_US |
dc.language | eng | en_US |
dc.language.iso | en | en_US |
dc.relation.ispartof | Eur Neuropsychopharmacol | en_US |
dc.rights | All rights reserved | |
dc.subject | Brain stimulation | en_US |
dc.subject | Down syndrome | en_US |
dc.subject | Fragile X syndrome | en_US |
dc.subject | Intellectual disabilities | en_US |
dc.subject | Neuroplasticity | en_US |
dc.subject | iPS cells | en_US |
dc.subject | Animals | en_US |
dc.subject | Cognitive Behavioral Therapy | en_US |
dc.subject | Deep Brain Stimulation | en_US |
dc.subject | Down Syndrome | en_US |
dc.subject | Fragile X Syndrome | en_US |
dc.subject | Humans | en_US |
dc.subject | Intellectual Disability | en_US |
dc.subject | Quality of Life | en_US |
dc.title | Translating molecular advances in Down syndrome and Fragile X syndrome into therapies. | en_US |
dc.type | Article | |
dc.rights.holder | 2018 Elsevier B.V. and ECNP. | |
dc.identifier.doi | 10.1016/j.euroneuro.2018.03.006 | en_US |
pubs.author-url | https://www.ncbi.nlm.nih.gov/pubmed/29887288 | en_US |
pubs.issue | 6 | en_US |
pubs.notes | Not known | en_US |
pubs.publication-status | Published | en_US |
pubs.volume | 28 | en_US |
dcterms.dateAccepted | 2018-03-12 | en_US |
rioxxterms.funder | Default funder | en_US |
rioxxterms.identifier.project | Default project | en_US |