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The HHT International Scientific Conference is held every other year. It is the premier conference on HHT, and over 250 basic and clinical researchers from around the world attend and present their work. The 12th HHT International Scientific Conference was held from June 8-11, 2017 in Dubrovnik.

Dr. Raj Kasthuri, Director of the UNC HHT Center of Excellence, was one of the invited speakers at the conference, and his talk was titled “Towards a Gene Therapy Approach for Vascular Disorders.” Dr. Kasthuri and Dr. Aravind Asokan, Associate Professor in the Department of Genetics and the UNC Gene Therapy center, are involved in research evaluating gene therapy based approaches for treatment of HHT, and their work was presented. Results from a recent drug trial titled “Pazopanib reduces bleeding in HHT” were also presented at the meeting. Pazopanib is an antiangiogenic drug that is currently approved for the treatment of certain solid organ cancers. Given its ability to inhibit blood vessel development, it was explored in a phase 1/2 clinical trial in HHT patients, and the results were encouraging. Dr. Kasthuri was involved in development of this trial and was a co-author of this presentation. He also presented a poster at the meeting titled “Presentation and Outcomes of Venous Thromboembolism in adults with HHT.”

Dr. Kristy Pahl, pediatric hematology and oncology fellow at UNC, has a particular interest in vascular malformation disorders. She has been working closely with Dr. Kasthuri over the last two years on various clinical research projects. Dr. Pahl presented her work at the meeting in an oral presentation titled “Applicability of the Curacao criteria in the diagnosis of HHT in children and young adults.” The diagnosis of HHT in children and young adults is challenging as the disease takes time to manifest even though it is a genetic disorder. The Curacao diagnostic criteria were developed and validated in adults but have not been evaluated in children thus far. Dr. Pahl conducted a multicenter study evaluating these criteria in ~ 300 children and young adults, and her results were presented. Dr. Pahl also had a poster presentation at the meeting titled “Causes and Severity of Anemia in HHT.” This again is a multicenter study in over 500 patients with HHT evaluating the prevalence and severity of anemia. Dr. Pahl also evaluated the ability of various clinical characteristics, such as severity of nose and GI bleeding, type of HHT mutation, and presence of internal organ involvement, to predict the severity of anemia in HHT.