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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.

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

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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