Translational research in rare diseases with vascular involvement: from the lab to the patients

Our laboratory studies the gene expression, structure and function of the TGF-beta receptors endoglin and ALK1, in normal physiology and in the context f human pathology, with special emphasis in HHT. Both receptors are able to bind specifically the ligand BMP9, a member of the TGF-beta superfamily. Mutations in endoglin or ALK1 genes give raise to HHT1 or HHT2, respectively, which are associated with frequent epistaxis, gastrointestinal hemorrhages, cutaneous telangiectasis and arteriovenous malformations in lung, liver and brain. Most recently, other rare pathologies with vascular involvement, as von Hippel Lindau (VHL) syndrome have been also included in our research. VHL is an autosomal dominant disease as HHT characterized by the development of CNS hemangioblastomas. Moreover, the role of soluble endoglin, has been explored in pathologies as preeclampsia, angiogenesis and wound healing repair.