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GENOMIA SIGNED

Genomic Modifiers of Inherited Aortapathy

Total Cost €

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EC-Contrib. €

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Partnership

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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.

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

Project "GENOMIA" data sheet

The following table provides information about the project.

Coordinator
UNIVERSITEIT ANTWERPEN 

Organization address
address: PRINSSTRAAT 13
city: ANTWERPEN
postcode: 2000
website: www.ua.ac.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 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

 Partnership

Take a look of project's partnership.

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

Map

 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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