Keynote Speakers


Here you will find the schedule of events, sessions, and workshops planned for the conference.
Please note that the agenda is subject to change, and we will continue to update this page with any modifications or additions.
We encourage you to check the hub regularly for the latest information.

Tuesday, October 15th

7:00pm – 10:00pm Registration & Welcome Reception 

Location: Royal Bay & Agora 

Wednesday, October 16th 

7:15am Poster Set-Up

Location: Iles ABC

Posters should be on display from Wednesday morning through Friday;
all posters remain on display for viewing both at the designated time with the authors (see below) and informally (without authors) at coffee breaks and lunch.

8:00am - 8:25am Welcome


Marianne Clancy, Cure HHT Executive Director

Patient Story

8:25am – 9:25am Session 1: Keynote Speaker


Dr. Carmelo Bernabeu

Spanish National Research Council

Margarita Salas Center for Biological Research

 9:25am – 9:40am Break 

9:40am – 11:45am Session 2: Molecular and Cellular Mechanisms


HHT genes in action: how endoglin facilitates ALK1-mediated BMP9 (and 10) signalling on endothelial cell surface

Dr. Wei Li

BHF Senior Basic Science Research Fellow, Victor Phillip Dahdaleh Heart & Lung Research Institute

University of Cambridge

Oral Presentations (10:20am – 11:45am)

Each oral presentation is 8 minutes followed by 3-4 minutes of discussion.

All speakers will be requested to adhere to the time limit.

10:20am – 10:32am
Non-Invasive Detection and Functional Characterization of Pericyte Dysfunction in Hereditary Hemorrhagic Telangiectasia using Super-Resolution Ultrasound-Identification of TGF-Beta as Potential Drug Target

Jérémy Thalgott, MSc

10:32am – 10:44am
Endothelial deletion of Hereditary Hemorrhagic Telangiectasia 2 (HHT2)/activin receptor-like kinase (Alk1) gene initiated arteriovenous malformations (AVM) from capillaries revealed by longitudinal live 2-photon imaging

Rong Wang, PhD

10:44am – 10:56am
ANG2 Blockade Diminishes Proangiogenic Cerebrovascular Defects Associated With Models of Hereditary Hemorrhagic Telangiectasia

Stryder Meadows, PhD

10:56am – 11:08am
Pre-clinical assessment of ANG2-VEGFA bispecific inhibitor on AVM formation in HHT mouse models.

Shreya Bavishi, MBBS

11:08am – 11:20am
Deciphering hepatic and cardiac BMP10 functions using tissue-specific Bmp10-KO mouse models

Léa Vialet, PhD

11:20am – 11:32am
Alk1/Endoglin signaling restricts vein cell size increases in response to hemodynamic cues and limits ribosomal biogenesis

Arndt Siekmann, PhD

11:32am – 11:45am
CDK6 controls endothelial cell proliferation and AVM pathology in HHT

Sima Qutaina, PhD

11:45pm – 1:00pm Lunch 

Royal Bay 

1:00pm – 2:50pm Session 3: Bleeding and Anemia


Women’s Issues and Chronic Bleeding Management

Dr. Annette von Drygalski

Director, Hemophilia and Thrombosis Treatment Center,

University of California, San Diego, USA

Oral Presentations (1:40pm – 2:35pm)

Each oral presentation is 8 minutes followed by 3-4 minutes of discussion.

All speakers will be requested to adhere to the time limit.

Antiplatelet and anticoagulant therapies in hereditary hemorrhagic telangiectasia: a large French prospective study (PROPLACOTEL)

Vincent Grobost, MD

Poor Adherence to International Guidelines for Intravenous Iron in U.S. Patients with Hereditary Hemorrhagic Telangiectasia

Hanny Al-Samkari, MD

Hereditary hemorrhagic telangiectasia may be the most morbid and clinically significant inherited bleeding disorder of women

Ellen Zhang, MD

A new peptide derived from Endoglin as a strategy to treat epistaxis in HHT patients

Elisa Rossi, PhD

2:30pm – 2:45pm Break

2:45pm – 3:25pm

Therapeutic Potential of ALK1 Activating Drugs in HHT Models

Dr. Philippe Marambaud

Professor, Institute of Molecular Medicine

Feinstein Institutes for Medical Research

3:25pm – 5:30pm Session 4: Diagnosis and Clinical Imaging


Oral Presentations (3:25pm – 5:30pm)

Each oral presentation is 8 minutes followed by 3-4 minutes of discussion.

All speakers will be requested to adhere to the time limit.

The value of transthoracic contrast echocardiography after pulmonary arteriovenous malformation embolization

Josefien Hessels. MD

Evolution of Pediatric Pulmonary AVMs (PAVMs) in HHT

Paul Kirkpatrick, MD

Pulmonary Arteriovenous Malformation Recurrence in Patients with Pulmonary Hypertension

Adam Fish, MD

Reperfusion of pulmonary arteriovenous malformations treated by catheter embolization

Bianca Gulich

Screening of patients diagnosed with HHT (hereditary hemorrhagic telangiectasia) or their first-degree relatives for disease expression in brain, liver and lung by Magnetic Resonance Imaging

Günther Schneider, MD, PhD

Microvascular Plug Embolization of the Distal Feeding Artery versus Coil Embolization of the Nidus and Feeding Artery: Which Technique is More Effective for Pulmonary Arteriovenous Malformations?

Shanmukha Srinivas, MD

4:40pm – 5:00pm Poster Blitz


Two Minutes will be given to each presenter as a mini oral presentation to encourage the audience to attend your poster presentation during the sessions.

Poster Blitz

4:40pm – 4:42pm
A Novel Mouse Model for Investigating the Influence of Second Hits on AVM Development and Bleeding in Hereditary Hemorrhagic Telangiectasia (HHT)

Adella Guidroz, BS

4:42pm – 4:44pm
Impact of heterozygous ALK1 mutations on the transcriptomic response to BMP9 and BMP10 in endothelial cells from Hereditary Hemorrhagic Telangiectasia and Pulmonary Arterial Hypertension donors

Sabine Bailly, PhD

4:44pm – 4:46pm
MEK 1 inhibition and bleeding in hereditary haemorrhagic telangiectasia

Claire Shovlin, PhD, FRCP

4:46pm – 4:48pm
Emerging factors affecting diagnostic delay in HHT: preliminary questionnaire-based results from a cohort of Italian patients

Luigi Rizzi, MD

4:48pm – 4:50pm
Association between systemic inflammation and severity of epistaxis in patients with hereditary hemorrhagic telangiectasia (HHT)

Luis Adrian Viteri-Noel, MD

4:50pm – 4:52pm
Ultrafast doppler ultrasound for non-Invasive assessment of microvascular dysfunction inside the body

Finn Timmermans, MSc

4:52pm – 4:54pm
New insights on 5’UTR variants altering upstream Open Reading Frames in ENG and their impact on Hereditary Hemorrhagic Telangiectasia

Omar Soukarieh, PhD

4:54pm – 4:56pm
Pulmonary ArterioVenous Malformation EMBOlotherapy using SHApe memoRy Polymer (PAVM-EMBO-SHARP): A prospective registry study

Sjors Klompmaker, MD, MS, PhD

4:56pm – 4:58pm
Investigating Opposing Roles of Pro- and Anti-Angiogenic Connexins in Vascular Malformation

Edward Looker, BA

4:58pm – 5:00pm
Contributions of Alk1 signaling loss and hemodynamic force to endothelial cell behaviors that underlie AVM development in acvrl1 mutant zebrafish

Anthony Anzell, PhD

5:00pm – 7:30pm Research Poster Session

Iles ABD 

Odd # Posters:  5:30-6:30

Even # Posters: 6:30-7:30

Wine and Cheese will be served during the research poster session. 

Thursday, October 17th

8:00am – 8:15am Welcome


Patient Story

8:15am – 10:20am Session 5: Pre-Clinical and Clinical Trials


Eric Duhaime

SVP Finance & Corporate Development

Diagonal Therapeutics

Oral Presentations (9:05am – 10:20am)

Each oral presentation is 12 minutes followed by 3-4 minutes of discussion.

All speakers will be requested to adhere to the time limit.

Intravenous bevacizumab in HHT: A French Multicenter Real-world data study

Sophie Dupuis-Girod, MD, PhD

Low-dose Tacrolimus for Epistaxis in Hereditary hemorrhagic Telangiectasia: Phase II Open Label Trial

Marie Faughnan, MD

Sirolimus for Epistaxis in Hereditary Hemorrhagic Telangiectasia: A Phase II Open-Label Trial

Negar Bagheri, MSc

Effectiveness and safety of continuous long-term antifibrinolytic therapy in patients with Hereditary Hemorrhagic Telangiectasia

Raj Kasthuri, MBBS

Trial-in-Progress Update: A Phase II/III randomized, placebo-controlled, double-blind study to evaluate the effects of low-dose pazopanib on hereditary hemorrhagic telangiectasia-related epistaxis and anemia

Jim Gossage, MD

10:20am – 10:35am Break 

10:35am – 12:30pm Session 6: New Drugs and Procedural Treatments


From a Single Patient to a US FDA‐approved Drug: The Story of a Drug Repositioning for a Rare Disease

Dr. Guillame Canaud

Professor, Translational Medicine and Targeted Therapies Unit

Necker Enfants Malades Hospital

Oral Presentations (11:15am – 12:30pm)

Each oral presentation is 8 minutes followed by 3-4 minutes of discussion.

All speakers will be requested to adhere to the time limit.

Towards the development of safe analogues of pomalidomide preserving vascular integrity to treat Hereditary Haemorrhagic Telangiectasia

Franck Lebrin, PhD

Engineered BMP2/BMP7 extracellular vesicles as an anti-angiogenic strategy for Hereditary Hemorrhagic Telangiectasia (HHT)

Humberto De Vitto, MSc, PhD

RV Remodeling in High Output Heart Failure in HHT Patients with Liver AVMs

Lawrence Young, MD and Katherine Clark, MD, MBA

Outcomes of Stereotactic Radiosurgery for Brain AVM in HHT patients: Japanese Multicenter Retrospective Study (JLGK-2302)

Takenori Akiyama, MD

Novel use of haemostatic gel (PuraStat) after laser ablation for HHT-related epistaxis

Joanne Rimmer, MBBS, MA(Hons), FRCS(ORL-HNS), FRACS

Quantitative Hepatic Artery Flow Assessment as a Potential Screening Study for Development of High-Output Heart Failure (HOHF) in Hereditary Hemorrhagic Telangiectasias (HHT) Patients with Hepatic Arteriovenous Malformations (AVMs)

Nirmal Vijayavel, MD

12:30pm – 1:20pm Networking Lunch

Royal Bay


Molecular approaches for the regulation of the TGF-beta signaling pathway in disease 

Dr. Maria Macias 

Group Leader, Mechanisms of Disease Unit 

IRB Barcelona 

2:00pm – 3:30pm Session 7: Pro/Con Debates


Thirty minutes will be given for debate topics as a way to cordially discuss some potentially contentious topics in the basic science and clinical treatment realms of HHT.

Friday, October 18th

8:00am – 8:15am Welcome 


Patient Story

8:15am – 9:55am Session 8: Psychology and Quality of Life


Oral Presentations (8:15am – 9:25am)

Each oral presentation is 8 minutes followed by 3-4 minutes of discussion.

All speakers will be requested to adhere to the time limit.

Overcoming barriers to change: the promise of web-mediated counseling for the management and treatment of Hereditary Haemorrhagic Telangiectasia

Giuseppe Marano, PsyD

Unanticipated Consequences of HHT Guidelines Bubble Filter Recommendation for Patients with PAVM

Kimberly Wei, BS

Assessment of Knowledge of HHT Care in a Dental Setting

Zachary Tigani, MPH

Characterizing Self-Reported Epistaxis Measures in Hereditary Hemorrhagic Telangiectasia

Christopher Tarulli, BSc

Clinical Characteristics and Tolerability of Treatment for Obstructive Sleep Apnea (OSA) in Patients with Hereditary Hemorrhagic Telangiectasia (HHT)

Akash Mathavan, MD

Family planning, intimacy and contraception in hereditary hemorrhagic telangiectasia: a European survey study

Josefien Hessels, MD

9:30am – 10:00am Group Photo / Break 


10:00am – 12:00pm Session 9: Workshop Sessions


Workshop Sessions

Workshop Session A
Moderators: Murali Chakinala, MD and Nicholas Morrell, ScD

HHT and Pulmonary Hypertension/Pulmonary Arterial Hypertension

Workshop Session B
Moderators: Jamie McDonald, MS, LGC and Sabine Bailly, PhD

What is HHT? Explore the evolving definition of HHT with advancements in genetic testing and diagnosis, variant curation, and implications for clinical care.

Workshop Session C
Moderator: Marianne Clancy, MPA

Funding opportunities at the US NIH and US DoD
Invited Speakers: Andrei Kindzelski, MD, PhD and Mark Vieth

12:00pm-1:00pm Lunch 

Royal Bay

1:00pm – 2:00pm Session 10: Plenary Randomized Clinical Trials Session


Oral Presentations (1:00pm-2:00pm)

Each oral presentation is 15 minutes followed by 5 minutes of discussion.

All speakers will be requested to adhere to the time limit.

PATH-HHT, A Multicenter, Double-Blind, Randomized, Placebo-Controlled Trial in Hereditary Hemorrhagic Telangiectasia Demonstrates that Pomalidomide Reduces Epistaxis and Improves Quality of Life

Keith McCrae, MD

Novel allosteric AKT inhibitor for the treatment of HHT

Hans-Jurgen Mager, MD, PhD

Oral nintedanib and epistaxis in hereditary hemorrhagic telangiectasia The EPICURE national multicenter randomized double-blind clinical trial

Ruben Hermann, MD, PhD

2:00pm-2:30pm Expert Case


Proceedings of the International Expert Case Conference 2023-2024

2:30pm – 2:45pm Break

2:45pm – 5:00pm Session 11: Genetics and Gene Therapy in HHT


Exploring Non-Canonical Regulation of Endoglin: Molecular and Clinical Insights from the analysis of rare and common Variants

Dr. David-Alexandre Trégouët

Head of the department of Molecular Epidemiology of Vascular and Brain Disorders

Bordeaux Population Health Research Center

Oral Presentations (3:25pm-5:00pm)

Each oral presentation is 8 minutes followed by 3-4 minutes of discussion.

All speakers will be requested to adhere to the time limit.

Somatic mutations in hereditary hemorrhagic telangiectasia arteriovenous malformations

Evon Debose-Scarlett, BS

Development of a functional cellular test for the characterization of SMAD4 variants in HHT

Agnes Desroches-Castan, PhD

Mutations causing premature termination codons discriminate clinical variability in three cohorts with HHT haemorrhage

Claire Shovlin, PhD, FRCP

Somatic activating mutation in Phosphoinositide 3-kinase in a plexiform lesion of an Endoglin mutation carrier with hereditary hemorrhagic telangiectasia (HHT) and pulmonary arterial hypertension (PAH)

Katharina Schimmel, PhD

Identification and validation of a novel pathogenic variants in GDF2 (BMP9) responsible for hereditary hemorrhagic telangiectasia

Sabine Bailly, PhD

Genetic Modifiers for Disease Severity in Hereditary Hemorrhagic Telangiectasia

Shantel Weinsheimer, PhD

Discovery of Biallelic Loss of Heterozygosity in Brain Arteriovenous Malformation (AVM): Somatic Second Hit Mutations Drive AVM Formation in HHT

Pinar Bayrak-Toydemir, MD, PhD, FACMG

7:00pm Gala Dinner

Saturday, October 19th

9:30am – 9:45am Welcome


Patient Story

9:45am – 11:40am Session 12: Molecular and Cellular Mechanisms



Dr. Karen Hirschi

Director, Developmental Genomics Center

University of Virginia

Oral Presentations (10:25am - 11:40am)

Each oral presentation is 8 minutes followed by 3-4 minutes of discussion.

All speakers will be requested to adhere to the time limit.

Exploring vascular heterogeneity in HHT2 brain AVM model

Alexandre Dubrac, PhD

AAV mediated overexpression of Alk1 in brain endothelial cells alleviates the severity of bAVM in Alk1 deficient mice

Hua Su, MD

Shared and Distinct Circulating microRNome in Hereditary Hemorrhagic Telangiectasia with Brain Arteriovenous Malformations and Familial Cerebral Cavernous Malformations, Sturge-Weber Syndrome, and Cerebral Microbleeds

Romuald Girard, PhD

Biosynthesis of ALK1 ligands, BMP9 and BMP10

Beth Roman, PhD

11:13am – 11:25am
A new Cleavage site of Membrane Endoglin mediated by thrombin: Implications in Endothelial Dysfunction

Divina El Hamaoui, MSc

11:25am – 11:37pm
The higher specificity of BMP10 towards the ALK1 receptor compared to BMP9 may explain BMP10’s primary role in forming the proper arteriovenous network

Yong Hwan Kim, PhD

12:15pm – 2:45pm Awards and Closing