Etiopathogenetic study of inherited disorders of the connective tissue presenting with arterial malformations (3E00411)

This project assesses proper vascular development and maintenance through the study of inherited connective tissue diseases. We will (1) unravel the molecular basis by wich mutations un GLUT10 cause aberrant vascular development in a mouse model for arterial tortuosity syndrome; (2) search fot new genetic defects causing familial aortic aneurysms; (3) clinically and molecularly characterize patiens with cerebral aneurysms.