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ZIDOMS SIGNED

Using Zebrafish as a novel tool to Improve the Diagnosis and Outcome of Marfan Syndrome

Total Cost €

0

EC-Contrib. €

0

Partnership

0

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 ZIDOMS project word cloud

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

mutations    fbn1    deleterious    lifelong    positive    symptoms    linked    expertise    precision    mfs    classification    biological    relies    advantage    zebrafish    efficient    backer    validate    syndrome    researcher    personal    cure    detection    quick    supportive    discovery    spectrum    of    personalized    patient    look    prevent    rare    synergy    aid    treatment    clinical    evaluation    recent    proposing    syndromic    fibrillin    predictive    drug    treatments    models    therapies    significance    morbidity    genetic    proof    exists    disorder    causal    mortality    nevertheless    identification    historical    unmet    prof    dr    screening    medicine    physiology    cardiovascular    patients    model    combination    diagnosis    variants    de    optimal    sips    unequivocally    tool    strategy    gene    disease    animal    leads    mutation    complications    marfan    supervisor    potentially    technological    libraries    clinic    classifications    definitive    classify    unknown   

Project "ZIDOMS" data sheet

The following table provides information about the project.

Coordinator
UNIVERSITEIT GENT 

Organization address
address: SINT PIETERSNIEUWSTRAAT 25
city: GENT
postcode: 9000
website: http://www.ugent.be

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 Belgium [BE]
 Total cost 172˙800 €
 EC max contribution 172˙800 € (100%)
 Programme 1. H2020-EU.1.3.2. (Nurturing excellence by means of cross-border and cross-sector mobility)
 Code Call H2020-MSCA-IF-2017
 Funding Scheme MSCA-IF-EF-RI
 Starting year 2018
 Duration (year-month-day) from 2018-09-01   to  2020-08-31

 Partnership

Take a look of project's partnership.

# participants  country  role  EC contrib. [€] 
1    UNIVERSITEIT GENT BE (GENT) coordinator 172˙800.00

Map

 Project objective

Recent technological advances have brought the implementation of personal and precision medicine in the clinic within reach. In this project, we are proposing to use zebrafish as a novel, efficient tool to improve the clinical diagnosis and treatment of Marfan Syndrome (MFS), a rare genetic disorder with a wide spectrum of clinical features. Since there is no definitive cure for MFS, patients need lifelong supportive treatment to prevent morbidity and mortality related to cardiovascular complications. Together with the detection of a number of syndromic symptoms, positive diagnosis of MFS relies on the identification of a deleterious mutation in the fibrillin-1 (FBN1) gene. Nevertheless, genetic testing often leads to the discovery of FBN1 variants which are not unequivocally linked to disease development. Current practice relies on the evaluation of historical and predictive parameters to classify variants of unknown significance as potentially causal mutations, but no biological model exists to efficiently validate the genetic classifications. This project aims to make optimal use of the combination of the know-how of the researcher, Dr. Sips, in the field of cardiovascular physiology and animal models of disease, with the clinical expertise of the supervisor, Prof. De Backer, in the diagnosis and treatment of MFS patients. The goal is to develop a zebrafish-based model that will allow for the quick classification of unknown variants in the FBN1 gene to aid in the diagnosis of MFS. In addition, the model will allow an efficient screening of drug libraries to look for potential new therapies, which might make it possible to find patient-specific treatments. Taken together, this project aims to take advantage of the synergy between the researcher and the supervisor in order to develop a novel strategy for a personalized approach to medicine. MFS is studied as a proof-of-concept clinical challenge with unmet needs in diagnosis and treatment.

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The information about "ZIDOMS" are provided by the European Opendata Portal: CORDIS opendata.

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