Department of Molecular Biology and Biochemistry, University of California Irvine, Irvine, CA, USA.
Department of Pulmonology, St. Antonius Hospital, Koekoekslaan 1, 3435 CM, Nieuwegein, The Netherlands.
Angiogenesis. 2018 Feb;21(1):169-181. doi: 10.1007/s10456-017-9585-2.
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.
遗传性出血性毛细血管扩张症是一种常染色体显性遗传疾病，约每 5000 人中就有 1 人患病。ENG、ACVRL1 或 SMAD4 基因中的致病性 DNA 序列变异可在大多数患者中发现。第十二届国际遗传性出血性毛细血管扩张症科学会议于 2017 年 6 月 8 日至 11 日在克罗地亚杜布罗夫尼克举行，会议旨在展示和讨论最新的科学成果，有 200 多名科学和临床研究人员参加。共接受了 174 份摘要，其中 58 份被选为口头报告。本文涵盖了基础科学和临床演讲，以及三个基于主题的研讨会的讨论。我们重点关注重要的新兴主题和未解决的问题。了解这些主题并回答这些问题将有助于确定 HHT 研究和治疗的未来方向，并最终使我们更接近治愈。
