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DMD2CURE

Correction of duplications in the DMD gene by a CRISPR/Cas9 approach

Total Cost €

0

EC-Contrib. €

0

Partnership

0

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 DMD2CURE project word cloud

Explore the words cloud of the DMD2CURE project. It provides you a very rough idea of what is the project "DMD2CURE" about.

technologies    introduce    diseases    muscle    molecular    disorder    10    restoring    exon       translation    uses    cardiac    model    male    deleted    strategy    necrosis    duplications    followed    expression    sequence    deletions    regions    duchenne    pathologies    inversion    tools    hold    exonic    represented    applicable    reported    recessive    editing    tandem    gene    skeletal    disease    frame    identical    incidence    frequent    crispr    dystrophin    occurs    dmd    almost    limited    linked    sequences    weakening       genome    nucleases    premature    muscular    feasible    wasting    promises    termination    therapies    grna    treatment    arena    dystrophy    contiguous    premises    removing    live    generally    births    sites    cas9    delayed    deletion    mutations    employ    revolutionizing    skipping    database    progressive    date    synthetic    chose    induce    mutation    milestones    intronic    fibrosis    motor    respiratory    exist    repair    alterations    pave    therapeutic    leiden    protein    despite    coding    therapy    duplication    500    shift   

Project "DMD2CURE" data sheet

The following table provides information about the project.

Coordinator
ASSOCIATION GENETHON 

Organization address
address: RUE DE L INTERNATIONALE 1 BIS
city: EVRY
postcode: 91002
website: www.genethon.fr

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 France [FR]
 Project website http://www.genethon.fr/en/
 Total cost 185˙076 €
 EC max contribution 185˙076 € (100%)
 Programme 1. H2020-EU.1.3.2. (Nurturing excellence by means of cross-border and cross-sector mobility)
 Code Call H2020-MSCA-IF-2015
 Funding Scheme MSCA-IF-EF-ST
 Starting year 2017
 Duration (year-month-day) from 2017-03-01   to  2019-02-28

 Partnership

Take a look of project's partnership.

# participants  country  role  EC contrib. [€] 
1    ASSOCIATION GENETHON FR (EVRY) coordinator 185˙076.00

Map

 Project objective

Duchenne muscular dystrophy is an X-linked recessive muscle-wasting disease, characterized by progressive weakening of skeletal, respiratory, and cardiac muscle followed by necrosis and fibrosis. DMD affects ~1:3,500 live male births and is associated with delayed motor milestones. DMD occurs as a result of mutations within the DMD gene that lead to premature termination of translation. The most frequent type of mutations are exonic deletions and duplications that induce a frame-shift in the protein-coding sequence. To date no effective treatment exist for this disorder. Duplications account for ~5–10% of all reported mutations in DMD in the Leiden database, although the incidence may be higher. Despite the limited number in DMD, duplications are widespread in almost all diseases and are generally neglected by therapeutic approaches. New molecular tools, now represented by genome-editing technologies that use synthetic nucleases in order to introduce targeted alterations at specific sites in the genome, hold great promises for revolutionizing the gene therapy arena. According to these premises, we propose a novel strategy based on the CRISPR/Cas9 system to repair tandem duplications by removing the mutation: compared to the exon deletions approach which uses two gRNA targeting two unique regions defining the sequence to be deleted, our approach will employ only one gRNA against a unique intronic sequence within the tandem duplication. This strategy will exploit the characteristic of tandem duplication (two identical contiguous sequences) and will result in the deletion or inversion of the mutation restoring the dystrophin expression. As a model we chose the exon 2 duplication which is the most frequent one in the DMD gene, but the same approach would be applicable to all tandem duplications. This study will pave the way for the development of therapies against duplications also in pathologies in which the exon skipping approach is not feasible.

 Publications

year authors and title journal last update
List of publications.
2017 Annalisa Lattanzi, Stephanie Duguez, Arianna Moiani, Araksya Izmiryan, Elena Barbon, Samia Martin, Kamel Mamchaoui, Vincent Mouly, Francesco Bernardi, Fulvio Mavilio, Matteo Bovolenta
Correction of the Exon 2 Duplication in DMD Myoblasts by a Single CRISPR/Cas9 System
published pages: 11-19, ISSN: 2162-2531, DOI: 10.1016/j.omtn.2017.02.004
Molecular Therapy - Nucleic Acids 7 2019-09-02

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