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Direct reprogramming for HD Disease Modelling

Total Cost €


EC-Contrib. €






 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.

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

Project "DISMOD-HD" data sheet

The following table provides information about the project.


Organization address
address: Via Festa Del Perdono 7
city: MILANO
postcode: 20122

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


Take a look of project's partnership.

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


 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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