Study of monogenic cutis laxa syndromes: paradigms for elastic fiber homeostasis

Cutis laxa syndromes are a heterogeneous group of rare connective tissue disorders clinically characterized by loose redundant skin folds, reflecting impaired elastic fiber homeostasis. We will further characterize the arterial tortuosity syndrome, apply exome sequencing to identify novel genes in selected families from the Ghent patient cohort, and investigate the pathomechanisms in genetically modified zebrafish models using CRISPR-CAS9 technology.