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quarta-feira, 06 junho 2018 15:34

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

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Victor Faundez1, Ilario De Toma2, Barbara Bardoni3, Renata Bartesaghi4, Dean Nizetic 5, Rafael de la Torre6, Roi Cohen Kadosh7, Yann Herault8, Mara Dierssen9, Marie-Claude Potier10, Down Syndrome and Other Genetic Developmental Disorders ECNP Network

1
Department of Cell Biology, Emory University, Atlanta, GA, USA
2
Cellular and Systems Neurobiology, Center for Genomic Regulation, The Barcelona Institute of Science and Technology, Spain; Universitat Pompeu Fabra (UPF), Barcelona, Spain; Centro de Investigación Biomédica en Red CIBERER, Spain.
3
Université Côte d'Azur, INSERM, CNRS, Institute of Molecular and Cellular Pharmacology, Valbonne, France.
4
University of Bologna, Department of Biomedical and Neuromotor Sciences, Bologna, Italy.
5
Lee Kong Chian School of Medicine, Nanyang Technological University, Singapore; Barts and The London School of Medicine, Queen Mary University of London, United Kingdom.
6
Integrated Pharmacology and Neurosciences Systems Research Group, IMIM-Hospital del Mar Medical Research Institute, Barcelona, Spain; CIBEROBN, Madrid, Spain
7
Department of Experimental Psychology, University of Oxford, Oxford, United Kingdom.
8
Institut de Génétique et de Biologie Moléculaire et Cellulaire, Université de Strasbourg, Illkirch, France; Centre National de la Recherche Scientifique, UMR7104, Illkirch, France; Institut National de la Santé et de la Recherche Médicale, U964, Illkirch, France.
9
Cellular and Systems Neurobiology, Center for Genomic Regulation, The Barcelona Institute of Science and Technology, Spain; Universitat Pompeu Fabra (UPF), Barcelona, Spain; Centro de Investigación Biomédica en Red CIBERER, Spain. Electronic address: mara.dierssen@crg.eu.
10
Institut du Cerveau et de la Moelle épinière, CNRS UMR7225, INSERM U1127, UPMC, Hôpital de la Pitié-Salpêtrière, 47 Bd de l'Hôpital, Paris, France. Electronic address: marie-claude.potier@upmc.fr.

 

2018 Jun 28


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.


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