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DISMOD-HD SIGNED

Direct reprogramming for HD Disease Modelling

Total Cost €

0

EC-Contrib. €

0

Partnership

0

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 DISMOD-HD project word cloud

Explore the words cloud of the DISMOD-HD project. It provides you a very rough idea of what is the project "DISMOD-HD" about.

patients    milan    huntingtin    date    optimize    cag    msns    diseased    whereby    medium    vitro    cell    elena    temporal    generate    models    dependence    alter    incoordination    identification    pathogenic    tool    direct    exhibiting    newly    atrophy    fibroblasts    pathogenesis    devastating    disorder    striatal    allowed    she    caused    rare    amplification    gene    university    dominantly    htt    death    chorea    unknown    dramatic    hd    believe    degrees    inherited    gabaergic    mutated    obtain    healthy    protocol    cattaneo    vital    cure    al    victor    imsns    expansion    subjects    disease    symptoms    2014    published    codon    clinically    et    psychiatric    mechanisms    leads    neurons    clinical    pathophysiology    generation    human    reprogramming    prof    found    questions    spiny    perform    appropriatness    evolution    autosomal    motor    laboratory    repeat    conversion    progression    degeneration    function    huntington   

Project "DISMOD-HD" data sheet

The following table provides information about the project.

Coordinator
UNIVERSITA DEGLI STUDI DI MILANO 

Organization address
address: Via Festa Del Perdono 7
city: MILANO
postcode: 20122
website: www.unimi.it

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 Italy [IT]
 Total cost 180˙277 €
 EC max contribution 180˙277 € (100%)
 Programme 1. H2020-EU.1.3.2. (Nurturing excellence by means of cross-border and cross-sector mobility)
 Code Call H2020-MSCA-IF-2016
 Funding Scheme MSCA-IF-EF-ST
 Starting year 2017
 Duration (year-month-day) from 2017-05-15   to  2019-05-14

 Partnership

Take a look of project's partnership.

# participants  country  role  EC contrib. [€] 
1    UNIVERSITA DEGLI STUDI DI MILANO IT (MILANO) coordinator 180˙277.00

Map

 Project objective

Huntington’s disease (HD) is a rare and devastating autosomal dominantly inherited disorder caused by the amplification of the CAG codon in the huntingtin gene. The clinical symptoms of HD are chorea and motor incoordination as well as psychiatric symptoms. To date no cure has been found to alter the progression of the striatal atrophy due to the dramatic loss of GABAergic medium spiny neurons (MSNs) which eventually leads to death. Over the past years increasing knowledge around the function of huntingtin (HTT) has allowed the identification of number pathogenic mechanisms, however the specific processes whereby the mutated HTT leads to degeneration and their temporal evolution remains unknown. We believe it is of vital importance to develop disease-relevant human cell models from clinically characterized HD subjects in which to address questions related to pathogenic mechanisms and their dependence on the CAG repeats. For this reason the aim of the proposed project is to generate induced medium spiny neurons (iMSNs) from healthy or HD-diseased fibroblasts in order to generate a reliable disease modelling tool. The applicant will optimize an existing protocol for the generation of iMSNs from direct conversion of fibroblasts published by Victor et al (2014) to obtain healthy iMSNs in the laboratory of prof. Elena Cattaneo at the University of Milan. In a second step she will perform direct in vitro reprogramming of human fibroblasts derived from well characterized patients affected with HD exhibiting different degrees of CAG repeat expansion into induced HD-derived MSNs (HD-iMSNs). Finally, the newly generated HD-iMSNs will be analyzed, and their characteristics compared to those of the healthy iMSNs, in order to assess their appropriatness as a disease modelling tool to investigate the pathophysiology and pathogenesis of HD.

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The information about "DISMOD-HD" are provided by the European Opendata Portal: CORDIS opendata.

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