| Affiliation: | 1.Department of Molecular Biology and Biochemistry,University of California Irvine,Irvine,USA;2.Department of Pulmonology,St. Antonius Hospital,Nieuwegein,The Netherlands;3.Centro de Investigaciones Biológicas, Consejo Superior de Investigaciones Científicas (CSIC), and Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER),Madrid,Spain;4.Vascular Science, National Heart and Lung Institute,Imperial College London,London,UK;5.Institute of Genetic Medicine, Centre for Life,Newcastle University,Newcastle,UK;6.Hospices Civils de Lyon, Genetic Unit and HHT Reference Center, Bron, School of Medical and University Lyon 1,Lyon,France;7.Gastroenterology and Endoscopy Department, Reference Center for Hereditary Hemorrhagic Telangiectasia,Maggiore Hospital, ASST Crema,Crema,Italy;8.Einthoven Laboratory for Experimental Vascular Medicine, Department of Internal Medicine (Nephrology),Leiden University Medical Center,Leiden,The Netherlands;9.CNRS UMR 7587, INSERM U979, Institut Langevin, ESPCI,Paris,France;10.Department of Anatomy and Embryology,Leiden University Medical Center,Leiden,The Netherlands;11.Department of Cardiology,St. Antonius Hospital,Nieuwegein,The Netherlands |
| Abstract: | Hereditary hemorrhagic telangiectasia is an autosomal dominant trait affecting approximately 1 in 5000 people. A pathogenic DNA sequence variant in the ENG, ACVRL1 or SMAD4 genes, can be found in the majority of patients. The 12th International Scientific HHT Conference was held on June 8–11, 2017 in Dubrovnik, Croatia to present and discuss the latest scientific achievements, and was attended by over 200 scientific and clinical researchers. In total 174 abstracts were accepted of which 58 were selected for oral presentations. This article covers the basic science and clinical talks, and discussions from three theme-based workshops. We focus on significant emergent themes and unanswered questions. Understanding these topics and answering these questions will help to define the future of HHT research and therapeutics, and ultimately bring us closer to a cure. |
