Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant vascular disease, caused by mutations in endoglin (ENG), activin receptor-like kinase (ALK1), or SMAD4 genes. Major clinical features of HHT include recurrent epistaxis, telangiectasia, and arteriovenous malformations (AVMs) in multiple organs. An AVM is an abnormal tangled connection between arteries and veins without intervening capillaries, leading to dilated and tortuous vasculature. The aberrant high-pressure inflow of arterial blood into the veins results in serious health consequences such as epistaxis, anemia, stroke, heart failure, and death.
Despite current advances in diagnostics and management of the disease, treatment options remain limited. Our ultimate goal is to develop treatment options to cure AVMs via the understanding of the pathogenetic mechanisms of AVM formation. For this, we are focusing on the following projects with in vitro and in vivo models.