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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.

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

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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