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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.

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

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

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 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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