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Genomic Modifiers of Inherited Aortapathy

Total Cost €


EC-Contrib. €






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 GENOMIA project word cloud

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

completely    tgfbeta    coming    familial    decade    aortopathy    last    taad    dissection    muscle    contribution    largely    family    individualize    dozens    smooth    characterization    protocols    identification    strategies    altered    discover    deciphering    quite    asymptomatic    technologies    genes    world    aneurysm    individuals    mother    innovative    age    modifiers    aortic    treatment    families    mutation    culprits    human    thoracic    cell    inter    variation    significantly    carefully    syndromic    identical    nature    forms    signaling    primary    patho    sequencing    young    precise    modifies    contractility    owing    modifying    disease    extracellular    clinical    dysregulated    mutations    advent    penetrance    additional    medicine    straightforward    consequently    anticipate    leads    death    spectrum    history    matrix    sudden    mortality    variability    true    functional    precision    members    genetic    disturbed    causes    mouse    morbidity    varies    positive    mechanisms    homeostasis    therapeutic    western    generation    20    underlying    elusive   

Project "GENOMIA" data sheet

The following table provides information about the project.


Organization address
address: PRINSSTRAAT 13
postcode: 2000

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 1˙987˙860 €
 EC max contribution 1˙987˙860 € (100%)
 Programme 1. H2020-EU.1.1. (EXCELLENT SCIENCE - European Research Council (ERC))
 Code Call ERC-2017-COG
 Funding Scheme ERC-COG
 Starting year 2019
 Duration (year-month-day) from 2019-01-01   to  2023-12-31


Take a look of project's partnership.

# participants  country  role  EC contrib. [€] 
1    UNIVERSITEIT ANTWERPEN BE (ANTWERPEN) coordinator 1˙987˙860.00


 Project objective

Thoracic aortic aneurysm and dissection (TAAD) is an important cause of morbidity and mortality in the western world. As 20% of all affected individuals have a positive family history, the genetic contribution to the development of TAAD is significant. Over the last decade dozens of genes were identified underlying syndromic and non-syndromic forms of TAAD. Although mutations in these disease culprits do not yet explain all cases, their identification and functional characterization were essential in deciphering three key aortic aneurysm/dissection patho-mechanisms: disturbed extracellular matrix homeostasis, dysregulated TGFbeta signaling and altered aortic smooth muscle cell contractility. Owing to the recent advent of next-generation sequencing technologies, I anticipate that the identification of additional genetic TAAD causes will remain quite straightforward in the coming years. Importantly, in many syndromic and non-syndromic families, significant non-penetrance and both inter- and intra-familial clinical variation are observed. So, although the primary genetic underlying mutation is identical in all these family members, the clinical spectrum varies widely from completely asymptomatic to sudden death due to aortic dissection at young age. The precise mechanisms underlying this variability remain largely elusive. Consequently, a better understanding of the functional effects of the primary mutation is highly needed and the identification of genetic variation that modifies these effects is becoming increasingly important. In this project, I carefully selected four different innovative strategies to discover mother nature’s own modifying capabilities in human and mouse aortopathy. The identification of these genetic modifiers will advance the knowledge significantly beyond the current understanding, individualize current treatment protocols to deliver true precision medicine and offer promising new leads to novel therapeutic strategies.

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

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