Agenda

Day 1
07 Jun 2017

Welcome Reception

Join us at the Sunset Pool for a beautiful view of the Adriatic sea, music, food and friends. The perfect way to start our time together!
Day 2
08 Jun 2017

Poster Set-Up

Posters should be on display from Thursday morning through Friday evening, but it is recommended that all posters remain on display through Sunday so they are available for viewing both at the designated time with the authors and informally (without authors) at coffee breaks and lunch.

Session 1: Mechanisms of HHT

Invited Speaker: Dr. Anne Eichmann (8:30am – 9:15am) Vascular Mispatterning in HHT Disease   Oral Presentations 9:15am – 9:30am Endoglin prevents vascular malformation by regulating flow-induced cell migration and specification Jakobsson L, Jin Y, Muhl L, Burmakin M, Wang Y, Duchez AC, Betsholtz C, Arthur H   9:30am – 9:45am Arterial-venous malformation form through canonical SMAD4 Signaling Ola R, Eichmann A   9:45am – 10:00am Identification of TGF-Beta downstream effectors: a SMAD4 directed approach reveals a link between angiopoietin signaling and HHT Meadows S, Crist A   10:00am – 10:15am Cardiosphere derived cells require endoglin to promote paracrine-mediated angiogenesis. Arthur...
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Anne Eichmann, Ph.D.

Session 2: Treatment of HHT

Invited Speaker:  Dr. Luca Jovine  (10:30am – 11:15am) What the Human Endoglin-BMP9 Complex Looks Like and What Does It Tell Us   Oral Presentations 11:15am – 11:30am Effect of systemic bevacizumab on invasive cardiac hemodynamics among patients with hereditary hemorrhagic telangiectasia and high output heart failure. Allred C, Johnson K, Whitehead K   11:30am – 11:45am Intravenous bevacizumab for the management of transfusion dependent blood-loss anemia in hereditary hemorrhagic telangiectasia A standardized treatment protocol of Intravenous Bevacizumab for refractory HHT related epistaxis and gastrointestinal bleeding Iyer V, Apala D, Pannu B, Kotecha A, Brinjikji W, Leise M, Kamath P, Misra S,...
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Luca Jovine, Ph.D.

Session 3: Diagnosis of HHT

Invited Speaker:  Dr. Rosemary Akhurst  (1:45pm – 2:30pm) Genetic Variants Modify TGFb/BMP Signaling and Clinical HHT Phenotypes   Oral Presentations 2:30pm – 2:45pm Clinical, radiographic, and genetic findings of a cohort of 39 patients with hereditary hemorrhagic telangiectasia and brain vascular malformations Kalani MYS, Joyce E, Eli I, Park, M, Taussky P, Schmidt R, McDonald J, Whitehead K   2:45pm – 3:00pm Comparison of MRI and digital subtraction angiography for detection of cerebral arteriovenous malformations in hereditary hemorrhagic telangiectasia Hetts S, Vella M, Alexander M, Mabray M, Dickey M   3:00pm – 3:15pm Vitamin D levels are associated with decreased...
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Rosemary Akhurst, Ph.D.

Session 4: Workshop

  Impact of Inflammation and Injury on Vessels in HHT Co-Chairs: Luisa-Maria Botella, Ph.D. and Claire Shovlin, Ph.D., M.A., F.R.C.P.

Research Poster Session

  Posters 1-40                                                                                      Soderini Ballroom Pre-Function Area Antiangiogenic Therapy Brain Manifestations of HHT Clinical Manifestations of HHT Epistaxis and GI Bleeding Genetics   Posters 41-116                                                                  ...
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Day 3
09 Jun 2017

Session 5: Treatment of HHT

Invited Speaker:  Dr. Charles Theuer  (8:00am – 8:45am) Treatment Manifestations of an Endoglin Antibody   Oral Presentations 8:45am – 9:00am Effect of bevacizumab nasal spray on epistaxis duration in hereditary hemorrhagic telangiectasia: a randomized clinical trial Dupuis-Girod S, Ambrun A, Decullier E, Fargeton AE, Roux A, Bréant V, Colombet B, Rivière S, Cartier C, Lacombe P, Chinet T, Blivet S, Blondel JH, Gilbert-Dussardier B, Dufour X, Michel J, Harle JR, Dessi P, Faure F   9:00am – 9:15am Embolotherapy of pulmonary arteriovenous malformations with the MVP micro vascular plug: technical success and intermediate-term follow up Ishaque B, Hetts S, Kerlan...
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Charles Theuer, M.D., Ph.D.

Session 6: Diagnosis of HHT

Oral Presentations 10:05am – 10:20am Can graded contrast echocardiography be used for post-treatment surveillance of pulmonary arteriovenous malformations? DePietro D, Ferrari V, Pyeritz R, Trerotola S   10:20am – 10:35am Diagnostic yield of rescreening adults for pulmonary arteriovenous malformations Iyer V, Brinjikji W, Latino G, Gauthier A, Pantalone R, Vitor Yamaki D, Prabhudesai P, Cyr V, Chartrand-Lefèbvre C, Faughnan M   10:35am – 10:50am Optimizing shunt quantification in hereditary hemorrhagic telangiectasia screening for pulmonary arteriovenous malformations Whitehead K, Johnson K, McDonald J, O’Hara R, Carlisle J, Bradbury N   10:50am – 11:05am Gastrointestinal affection in HHT patients: cross sectional study...
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Session 7A: Workshop (basic science)

  Alk1 and Endoglin Signaling in HHT     Co-Chairs: Helen Arthur, Ph.D. and Franck Lebrin, Ph.D.

Session 7B: Workshop (clinical)

  State of the Art Management of Refractory Liver AVMs in HHT Co-Chairs: Elisabetta Buscarini, M.D. and Sophie Dupuis-Girod, M.D., Ph.D.

Enjoy Leisure Activities

You have the option of purchasing an afternoon leisure activity with the other conference attendees. This is a separate fee from conference registration. The shuttle boat will depart for the group from the hotel’s marina at 03:30 pm. Boat Ride – 45 minute boat ride to Old Town Dubrovnik. Enjoy a leisure afternoon exploring old city centre on your own and take a shuttle bus back to the resort. Shuttle boat 11,00€ (per person, each way); Shuttle bus 6,00€ (per person, each way). Guided Tour by Boat & Cable Car – The 2 hour tour starts with a boat ride to...
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Day 4
10 Jun 2017

Session 8: Translational Aspects of HHT

Invited Speaker:  Dr. Aravind Asokan  (8:00am – 8:45am) Towards a Gene Therapy Approach for Vascular Disorders   Oral Presentations  8:45am – 9:00am Evaluation of stop codon read through as a therapy for HHT Aldred M, Sadler T, Shovlin C   9:00am – 9:15am Mice lacking endoglin in macrophages show an impaired immune response. Botella L, Arthur H, Bernabeu C, Ojeda-Fernández L   9:15am – 9:30am Mosaicism involving non-blood tissue: implications for genetic testing in HHT families McDonald J, Wooderchak-Donahue W, Paul E, Morris A, Bayrak-Toydemir P   9:30am – 9:45am Endoglin antibody therapy produces the small vessel manifestations of HHT-1...
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Aravind Asokan, Ph.D.

Session 9: New Perspectives in HHT

Oral Presentations  10:05am – 10:20am VASCERN HHT priority evaluations 2016-2017  (European Reference Network on Rare Multisystemic Vascular Diseases) Shovlin CL, Botella L, Geisthoff U, Kjeldsen A, Mage JJ, Pagella F, Sabbà C, Buscarini E, Dupuis Girod S on behalf of the VASCERN-HHT Working Group   10:20am – 10:35am Narratives describing the impact of living with HHT: a qualitative study Bogwitz M, Taylor J, Sexton A, Gargan B, Winship I   10:35am – 10:50am Assessment of an age-related threshold of nasal, oral and cutaneous telangiectasia number for diagnosis of hereditary hemorrhagic telangiectasia: HHT Paris Center experience in 832 genotyped HHT patients. El...
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Session 10: Mechanisms of HHT

Invited Speaker:  Dr. Philippe Marambaud  (1:30pm – 2:15pm) Therapeutic Potential of ALK1 Activating Drugs in HHT Models   Oral Presentations 2:15pm – 2:30pm Decreased expression of VEGFR1 contributes to the pathogenesis of Hereditary Hemorrhagic Telangiectasia type 2 Lebrin F, Thalgott J, Dos-Santos-Luis D, Hosman AE, Martin S, Bracquart D, Srun S, Lamandé N, Carette MF, Oh SP, Westermann CJ, Snijder RJ, Mager JJ, Mummery CL, Rabelink TJ, Raymond K   2:30pm – 2:45pm Nitric oxide synthase inhibition attenuates Notch-mediated brain arteriovenous malformation    Wang R, Huang L   2:45pm – 3:00pm Overexpression of alk1 in endothelial cells suppresses development of arteriovenous...
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Philippe Marambaud, Ph.D.

Session 11A: HHT Around the World  

Oral Presentations  (3:35pm – 4:35pm) 3:35pm – 3:50pm Clinical Analysis of 200 Japanese HHT patients Komiyama M, Terada A, Ishiguro T, Morisaki H, Miyatake S, Matsumoto N   3:50pm – 4:05pm Hereditary hemorrhagic telangiectasia (HHT)—a retrospective study of ten patients Ivic M, Radic B, Kusec R, Pejsa V, Grgurevic I, Mitrovic Z   4:05pm – 4:20pm The relevance of HHT Europe (Federation of Patient Organizations) in improving patients centered activities and patient involvement in outcomes for HHT Crocione C, Grabowski C, Muñoz B, Topaz Druckman K (Patient Advocates)   4:20pm – 4:35pm HHT—a South African perspective on diagnosis, management and...
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Session 11B: Genetics and HHT

Oral Presentations 3:35pm – 3:50pm Are there any further HHT genes to be discovered?—an exome sequences study Tørring PM, Brusgaard K, Kjeldsen AD, Pinheiro R, Ousager LB   3:50pm – 4:05pm Variants in endoglin and non-HHT phenotypes Brilliant M, Hoch B, Ye Z, Mayer J, Hebbring S   4:05pm – 4:20pm Next generation sequencing in HHT genetic diagnosis Giraud S, Auboiroux C, Chambe, Dupuis-Girod S, Riviere S, Harle JR, Gerard M, Astudillo L, Mohamed S, Lesca G, Calender A   4:20pm – 4:35pm Two interesting cases of molecular diagnosis for HHT: low-level mosaicism and abnormal splicing of ACVRL1 Trevors C,...
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Honorary Lecture

Honorary Speaker:  Dr. Karel ter Brugge   A Perspective on HHT: AVMs and Interventional Radiology  
Karel ter Brugge, M.D., FRCPC

Cocktails / Gala Dinner

7:00pm – 7:30pm     Cocktails 7:30pm – 11:00pm   Dinner and Dancing Let’s celebrate the discoveries, collaborations, friendships, and new opportunities with a traditional Croatian dinner All conference attendees and their registered adult guests are invited to attend. A DJ will provide popular music from all genres. Plan to dance the night away!
Day 5
11 Jun 2017

Session 12: Mechanism of HHT    

Invited Speaker:  Dr. Arndt Siekmann  (8:00am – 8:45am) Endoglin Controls Blood Vessel Diameter Through Endothelial Cell Shape Changes   Oral Presentations  8:45am – 9:00am Isogenic induced pluripotent stem cells (IPSCS) derived from mosaic hereditary hemorrhagic telangiectasia type 1 (HHT1) patient Orlova V, Cao X, Freund C, Sánchez-Duffhues G, Hawinkels L, Petrus-Reurer S, van den Hil FE, Disch F, Snijder RJ, Westermann CJJ, Mager JJ, ten Dijke P, Ploos van Amstel JK, Mummery CL   9:00am – 9:15am Telangiectasia-on-a-chip: an in vitro model of hereditary hemorrhagic telangiectasia incorporating perfused vessels Andrejecsk JW, Hughes CCW   9:15am – 9:30am Somatic ALK1 gene...
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Arndt Siekmann, Ph.D.

Session 13: Treatment of HHT  

Oral Presentations 10:05am – 10:20am Long-term outcomes for radiosurgical management of brain arteriovenous malformations in patients with hereditary hemorrhagic telangiectasia Surgical treatment versus non-surgical treatment for brain arteriovenous malformations in patients with hereditary hemorrhagic telangiectasia: a retrospective multicenter consortium study Tayebi Meybodi A, Kim H, Nelson J, Hetts S, Krings T, ter Brugge K, Faughnan M, Lawton M, and the Brain Vascular Malformation Consortium HHT Investigator Group   10:20am – 10:35am Systemic to pulmonary arteriovenous malformations (SPAVM): a distinct entity from HHT PAVMS clinically, on imaging, and for embolization, with whole genome analysis Mitchell S, Terry P, Ringel R, Sobreira...
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Conference Summary / Awards

Basic Science Summary – Carmelo Bernabeu, PhD Clinical Science Summary – Urban Geisthoff, MD Presentation Awards – Hans-Jurgen Mager, MD, PhD and Christine Mummery, PhD
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