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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.

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

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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