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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.

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

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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