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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.

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

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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