1. Executive summary of the 12th HHT international scientific conference.
- Author
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Andrejecsk JW, Hosman AE, Botella LM, Shovlin CL, Arthur HM, Dupuis-Girod S, Buscarini E, Hughes CCW, Lebrin F, Mummery CL, Post MC, and Mager JJ
- Subjects
- Activin Receptors, Type II genetics, Activin Receptors, Type II metabolism, Arteriovenous Malformations genetics, Arteriovenous Malformations metabolism, Arteriovenous Malformations pathology, Arteriovenous Malformations therapy, Croatia, Endoglin genetics, Endoglin metabolism, Epistaxis genetics, Epistaxis metabolism, Genetic Variation, Humans, Smad4 Protein genetics, Smad4 Protein metabolism, Telangiectasia, Hereditary Hemorrhagic genetics, Telangiectasia, Hereditary Hemorrhagic metabolism, Telangiectasia, Hereditary Hemorrhagic pathology, Telangiectasia, Hereditary Hemorrhagic therapy
- 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.
- Published
- 2018
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