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Characterization of 7q11.23 reciprocal aneusomy syndromes: from patients to functional pathways (and back)

Total Cost €


EC-Contrib. €






 7DUP project word cloud

Explore the words cloud of the 7DUP project. It provides you a very rough idea of what is the project "7DUP" about.

originated    phenotypic    differentiated    reprogrammed    experimental    structural    basis    rearrangements    limited    cnvs    extensively    stem    limitations    wbs    appropriate    williams    alterations    communication    allowed    transcriptome    disorder    exhaustive    neuronal    cells    datasets    dysregulated    quantitative    functional    multidisciplinary    molecular    caused    collaborate    stages    area    patients    levels    patterns    models    microduplication    aneusomy    actively    therapeutic    rare    disorders    lack    neuron    sociability    variants    mechanisms    gene    human    beuren    omic    obtain    annotations    syndromes    technological    genomic    7q11    compile    reciprocal    brain    opposite    integrative    perform    little    vitro    alteration    identification    neurons    copy    model    systematic    individuals    subset    7dup    clinical    interaction    multiple    data    computational    overcome    generate    pluripotent    precluded    expression    unexplored    differentiation    syndrome    disease    protein    23    animal    disrupted    created    somatic    group   

Project "7DUP" data sheet

The following table provides information about the project.


Organization address
address: PLACA DE LA MERCE, 10-12
postcode: 8002

contact info
title: n.a.
name: n.a.
surname: n.a.
function: n.a.
email: n.a.
telephone: n.a.
fax: n.a.

 Coordinator Country Spain [ES]
 Project website
 Total cost 158˙121 €
 EC max contribution 158˙121 € (100%)
 Programme 1. H2020-EU.1.3.2. (Nurturing excellence by means of cross-border and cross-sector mobility)
 Code Call H2020-MSCA-IF-2014
 Funding Scheme MSCA-IF-EF-RI
 Starting year 2016
 Duration (year-month-day) from 2016-04-01   to  2018-03-31


Take a look of project's partnership.

# participants  country  role  EC contrib. [€] 
1    UNIVERSIDAD POMPEU FABRA ES (BARCELONA) coordinator 158˙121.00


 Project objective

Technological advances have allowed the identification of multiple rare rearrangements caused by structural and copy number variants (CNVs). The 7q11.23 microduplication syndrome (7dup) and Williams-Beuren (WBS) syndromes are originated by genomic reciprocal rearrangements that result in opposite phenotypic features in the area of communication and sociability. Although WBS has been extensively studied, there is lack of exhaustive studies of 7dup at the clinical and molecular levels. In this project, we aim to compile and characterize a large group of 7dup patients. Moreover, we will actively collaborate with a recently created 7dup support group. Little is known about the functional mechanisms disrupted by these aneusomy syndromes and the specific alterations caused during brain development. Limitations in the available animal models, lack of quantitative data and limited computational capabilities have precluded the identification of relevant molecular pathways involved in these disorders. This proposal aims to overcome these limitations by applying an integrative multidisciplinary approach involving experimental and computational methods. To generate human neuronal in vitro models, somatic cells from a defined subset of individuals with 7dup and WBS will be reprogrammed to obtain induced pluripotent stem cells and differentiated to neurons. To define neuron-specific alteration patterns in gene expression caused by these CNVs we will perform transcriptome analyses at multiple differentiation stages. Finally, the expression data will be integrated with protein interaction and other systematic gene annotations datasets to perform omic analyses to identify dysregulated pathways. Our results will help to better characterize at clinical and molecular level the unexplored 7dup disorder; to improve understanding of the functional basis involved in this reciprocal aneusomy syndromes; and to generate a disease model to test and determine appropriate therapeutic targets.

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The information about "7DUP" are provided by the European Opendata Portal: CORDIS opendata.

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