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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.

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

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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