Gent University

Study by P. Sips: Marfan syndrome is caused by pathogenic variants in fibrillin-1, and is associated with aortic wall damage. We use fibrillin-1 mutant mouse models to study the mechanisms leading to aortic disease. Using single-nuclear RNA sequencing and immunohistochemical staining we plan to identify changes in aortic cell populations in these models. We will also investigate cell type-specific molecular mechanisms. Our results are likely to lead to improved diagnosis and treatment options for aortic disease.