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7DUP

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

Total Cost €

0

EC-Contrib. €

0

Partnership

0

Views

0

 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.

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

Project "7DUP" data sheet

The following table provides information about the project.

Coordinator
UNIVERSIDAD POMPEU FABRA 

Organization address
address: PLACA DE LA MERCE, 10-12
city: BARCELONA
postcode: 8002
website: www.upf.edu

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 https://www.upf.edu/web/genetica/investigacio
 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

 Partnership

Take a look of project's partnership.

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

Map

 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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