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Investigating the functional impact of neurodegeneration-causing rare variants in the teleost model zebrafish

Total Cost €


EC-Contrib. €






 INNERVATE project word cloud

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

patients    visibility    transfer    tools    onset    amenable    variants    mutants    endless    ospedale    bene    difficulty    brain    competence    neurodegeneration    line    neurobiology    forces    mature    paths    efforts    live    tbcd    suffer    teleost    phenotype    undescribed    rare    inaccessibility    host    disciplinary    vivo    model    deciphering    catalog    fish    genotype    circa    underlying    small    mechanisms    countries    pediatrico    vertebrate    diagnosis    dr    people    exome    monitor    editing    reproduce    ugrave    gene    zebrafish    undiagnosed    vitro    therapy    del    pathogenic    neurons    cellular    generation    primary    axons    physiology    million    expertise    skills    burden    bambino    disorders    maintenance    tubulin    causing    dynamics    mts    poorly    ges    france    cofactors    societal    italy    sequencing    human    life    elusive    microtubules    division    intensive    innervation    cure    precursor    opbg    cell    ideal    transparent    combine    alter    previously    tbce    models    tartaglia    genetics    motoneurons    diseases    rapid    investigation    cooperation    genetic    threatening    imaging   

Project "INNERVATE" data sheet

The following table provides information about the project.


Organization address
city: ROMA
postcode: 165

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 183˙473 €
 EC max contribution 183˙473 € (100%)
 Programme 1. H2020-EU.1.3.2. (Nurturing excellence by means of cross-border and cross-sector mobility)
 Code Call H2020-MSCA-IF-2018
 Funding Scheme MSCA-IF-EF-ST
 Starting year 2020
 Duration (year-month-day) from 2020-05-01   to  2022-04-30


Take a look of project's partnership.

# participants  country  role  EC contrib. [€] 
1    OSPEDALE PEDIATRICO BAMBINO GESU IT (ROMA) coordinator 183˙473.00


 Project objective

Circa 30 million people in Europe suffer from life-threatening rare diseases, which are poorly understood. This major societal burden forces patients into endless paths for a diagnosis often without cure. EU cooperation efforts between countries contribute to improve research and visibility of these diseases with a primary role of the ‘Ospedale pediatrico Bambino Gesù’ (OPBG, Italy). Here, via next generation sequencing technology, Dr. Tartaglia recently described new genetic variants, including some in the tubulin cofactors TBCE and TBCD which alter microtubules (MTs) dynamics (crucial for brain development and maintenance) and cause previously undescribed early onset neurodegeneration. Yet the underlying pathogenic mechanisms and impact on the brain physiology remain elusive. Given the difficulty to reproduce brain physiology in vitro and its general inaccessibility, a vertebrate model amenable to genetic and whole-brain in vivo investigation is necessary. With its rapid and transparent development and genetic and imaging tools improving continuously, the small teleost fish zebrafish is ideal. I will monitor live MTs behaviour and cellular processes (e.g. cell division, axons formation and innervation) in the precursor and mature neurons of zebrafish TBCE and TBCD mutants, focusing on motoneurons. To this aim, I will combine my expertise in fish neurobiology with the host’skills in human genetics (Dr. Tartaglia) and fish gene editing (Dr. Del Bene, France). In line with the current EU efforts, this work will advance our understanding on rare genetic variants causing neurodegeneration. Deciphering the role of MTs dynamics on brain physiology will be relevant also for common brain disorders and exome sequencing of undiagnosed patients will further contribute to a genotype-phenotype catalog. Via an intensive transfer of knowledge, the project will increase EU multi-disciplinary competence on rare disorders in general, providing new models for therapy development.

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

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