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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.

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

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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