Executive summary of the 12th HHT international scientific conference.
Jillian W AndrejecskAnna E HosmanLuisa Maria BotellaClaire L ShovlinHelen M ArthurSophie Dupuis-GirodElisabetta BuscariniChristopher C W HughesFranck LebrinChristine L MummeryMarco C PostJohannes J MagerPublished in: Angiogenesis (2019)
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.
Keyphrases
- end stage renal disease
- newly diagnosed
- ejection fraction
- genome wide
- chronic kidney disease
- peritoneal dialysis
- public health
- small molecule
- epithelial mesenchymal transition
- transforming growth factor
- circulating tumor
- working memory
- gene expression
- single molecule
- patient reported outcomes
- transcription factor
- signaling pathway
- patient reported
- bioinformatics analysis