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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.

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

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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