Understanding and repairing GNAQ-mutant blood vessels

Acronym : RepairQ

Call : CardInnov 2023

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Topic

Capillary malformations (CMs) are devastating congenital vascular diseases which affect 3 in 1000 newborns.

About 6% of children with cutaneous CMs also suffer from a neurocutaneous syndrome called Sturge-Weber syndrome (SWS), However, currently there is no specific target therapy to cure CM/SWS; this is primary due to the lack of understanding of the biology of its pathogenesis.

Our goal is to find a specific therapy for this vascular disease by (i) developing clinical guidelines for the diagnostic and management of SWS patients; (ii) identifying the cellular and molecular vulnerabilities of SWS; (3) implementing precision medicine using a new mouse model of SWS. For this, we will create unique tools and use state-of-the-art technology. Importantly, our studies will be crucial to move forward a clinical trial; thus, the outcome of this project will highly benefit the patients. 

 

  • Coordinator:

    Mariona GRAUPERA, Fundació Institut de Recercac contra la Leucèmia Josep Carreras (IJC), Badalona, Spain

  • Partners:
    • Stephan HUVENEERS, Academic Medical Center Amsterdam, The Netherlands
    • Eulàlia BASELGA, Fundació per a la Recerca i la Docència Sant Joan de Déu Esplugues de Llobregat · Barcelona, Spain
    • Ayal BEN-ZVI, The Hebrew University of Jerusalem Jerusalem, Israel
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