Project

Human stem cell-derived models to unveil mechanisms of impaired myocardial function in Marfan Syndrome

Code
01J13919
Duration
01 October 2019 → 30 July 2024
Funding
Regional and community funding: Special Research Fund
Research disciplines
  • Medical and health sciences
    • Cardiology
Keywords
Marfan Syndrome human induced pluripotent stem cells cardiovascular diseases
 
Project description

Caused by mutations in the FBN1 gene (fibrillin-1), Marfan Syndrome (MFS) is multi-system disorder also affecting the cardiovascular system. Recent data suggest that cardiomyopathy may be a primary manifestation. In this proposal, we aim to analyze human models of MFS by coupling human induced pluripotent stem cells (hiPSC), with CRISPR gene editing, differentiation, detailed cardiomyocyte phenotyping and mechanistic interrogation.