Understanding and repairing GNAQ-mutant blood vessels
Acronym : RepairQ
Call : CardInnov 2023
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