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This year’s conference would not have been possible without the hard work and dedication of the Conference Program Executive Committee led by Beth Roman, PhD (University of Pittsburgh), Miles Conrad, MD (University of California, San Francisco), Paul Oh, PhD (Barrow Neurological Institute), and Andy White, MD (Washington University, St. Louis Children’s Hospital).

We'd like to give an enthusiastic thank you to everyone who contributed to this conference both scientifically and financially. Your commitment to this community had a direct impact on Cure HHT's ability to provide attendees with a rich and fulfilling experience. Your contributions are deeply appreciated by all!

Conference Program Executive Committee and Members
Sponsors and Exhibitors
Invited Speakers
Patients and Volunteers
Judges and Session Chairs
Donors who support Cure HHT and All Our Research Activities
Sponsor Logos

“These researchers are in the labs with mice and zebrafish trying everything to come up with cures and meds to help us. The 10 min presentations of lab studies and human studies showed their passion and their notetaking and asking questions revealed their dedication. To all presenters, thank you!

Alexia D.

Patient

“This was without a doubt the most stimulating and meaningful conference I have ever attended.”

Paul Freinkel, MD, PhD

South Africa

It was my first time at a scicon and it was truly mind blowing to see scientists, docs and patients from all over the world united in finding a cure for HHT--and having a lot of fun together in between teaching and learning! 

Sara Palmer, PhD

Patient, Clinical Psychologist, VP Cure HHT Board of Directors

This HHT meeting was an amazing experience. I really enjoyed it. I was able to meet HHT experts around the world that now will be my contacts for any questions about HHT for my patients. But more importantly, I have a new family and new friends. Thank you all for all the work you do!

Wilfredo DeJesus Rojas, MD

Puerto Rico

Introduction

The 2019 meeting brought together the world’s leading HHT experts in both basic research and clinical practice with a focus on translating findings between these fields. Over 200 voices were heard from six continents (21 countries), motivating interest for those new to the field, and encouraging young researchers and clinicians to continue to build a career surrounding HHT.

It was truly amazing to see the array of information presented at this meeting in the form of 10 invited speakers, 56 oral presentations, and 72 poster presentations, that all function to develop a greater global understanding of HHT. As always, this event continued to foster the opportunity for scientific collaboration, welcome young scholars to the community, and rekindle old friendships.

Oral Presentation Abstracts, Poster Presentation Abstracts and an Executive Summary of the talks and workshops will be published in the Fall issue of Angiogenesis. Cure HHT will also host a webinar this fall to review the highlights of the conference, with hopes that the knowledge gained from this meeting will spread and reach all corners of the HHT community. In the meantime, here are highlights of the clinical science summary presentation.

Scientific Conference Recap

Photos & Video

Conference Photo Gallery & Video

2019 HHT International Scientific Conference

Conference Summaries

Stay tuned!  The scientific conference summaries will be presented as a Cure HHT webinar this fall.

Clinical Science Summary

The 13th HHT International Scientific Conference provided an abundance of clinical research on current treatments as well as promising new therapies. Dr. Miles Conrad (UCSF) presented a summary (on behalf of Dr. Andy White, Washington University) of the clinical research presented in Puerto Rico.

  • Liver MR could be new direction in the assessment of hepatic AVM flow pre and post administration of antiangiogenics because it is reproducible. Phase contrast flow MRI and 4D flow are newer tools in liver imaging that will be useful in monitoring response to therapy.
  • Systemic treatments for HHT nosebleeds and anemia include good nasal hygiene, iron level maintenance, laser and/or sclerotherapy, doxycycline, tranexamic acid, bevacizumab, pazopanib, and thalidomide as a last resort
  • Pomalidomide is a potential new drug therapy; the pilot study results and the design of the first ever NIH sponsored clinical trial in HHT patients (PATH) was shared.
  • Much research was presented regarding pulmonary (lung) AVMs including the challenges of re-treating re-canalized PAVMs and cerebral complications of PAVM embolization
  • SMAD4 patients need head to pelvis imaging every 2 years
  • Precision medicine targeted therapy will be the future; genetic testing is key
  • Pazopanib pilot study showed positive results on patient outcomes and quality of life; Cure HHT is working with the FDA to conduct the first multi-center clinical trial

View the full Clinical Science Summary presentation

Basic Science Summary

Novel and interesting findings were reported by Dr. Phillipe Marambaud (The Feinstein Institute for Medical Research) at the 13th HHT International Scientific Conference. Insert photo Dr Marambaud

  • BMP10 is the most relevant physiological ligand of endothelial ENG-ALK1 signaling and thus has therapeutic potential in HHT
  • First evidence that biallelic loss of ENF or ALK1 can trigger lesion development in HHT.
  • Unique somatic mutations were found on different lesions from the same patient, suggesting that they are seeded by unique mutation events
  • Involvement of new causing mutations in non-coding genetic regions that lead to splicing changes were identified; inclusion of these regions in genetic testing might improve HHT diagnostic sensitivity
  • RNAseq and CHIPseq prioritized about 200 genes that are deregulated in the retina of an endothelial cell specific SMAD4 iKO mouse model; anti-angiopoietin 2 antibody prevented and reversed vascular pathology
  • Clonal endothelial cell expansion of ALK1 mutant cells (ALK1 KO) was demonstrated in a brain AVM model
  • Drug repurposing strategies: Longitudinal studies were performed and lesion formations were followed over time; some drug therapies showed changes in the pattern of AVM formation

Young Scholars

Young Scholars are the Future of HHT

The Young Scholar Research Program, launched by Cure HHT in 2015, was designed to attract new researchers into the field of HHT. The program was carried over into the HHT International Scientific Conference by funding travel awards that allowed a group of 21 young scientists / fellows to attend the event in Puerto Rico. In addition, eight young scholars received recognition, along with a monetary award, for their outstanding presentations at the conference. This year, Cure HHT is proud to support Young Scholars from Argentina, Canada, France, Japan, Latvia, Netherlands, Spain and the United States.

Young Investigator Travel Award Recipients

Cure HHT is excited to announce that we were able to grant twenty-one (21) Travel Awards for fourteen (14) abstract oral presenters and seven (7) abstract poster presenters to attend the 13th HHT International Scientific Conference due to the generosity of three donor families and one corporate sponsor. Award recipients were selected based upon their abstract score; each awardee will receive $750.00 (US) upon arrival at the conference to apply toward their travel and hotel costs.

Hanny Al-Samkari, MD

Anthony Anzell, BS, PhD Student

Nobuhiko Arai, MD

Shreyas Bhave, PhD

Teresa Capasso, BS, PhD Student

Hyunwoo Choi, PhD

Lucas Cusumano, MD, MPH

Juan Manuel Diaz, MD

Cristina Egido-Turrion, MS

Jennifer Fang, PhD

Ruben Hermann, MD

Naum David Hlebin, MD

Yong Hwan Kim, PhD

Steven Kroon, MD

Tarun Kukkadpu, MBBS

Aakanksha Rathor, MD

Dustin Roberts, Medical Student

Sonali Shaligram, PhD

Daniel Snellings, BS, PhD Student

Jeremy Thalgott, PhD Student

Carolina Vazquez, MD

Conference Presentation Awards

Congratulations to our Conference Presentation Awardees and all of the young scholars who presented their research at this years’ HHT International Scientific Conference. The HHT community is grateful for your contribution toward advancing a cure for this disease.

Throughout the four-day event, young scholar (defined as Residents, Postdoctoral/Clinical Fellows, PhD Candidates or Early Stage Investigators) presentations were judged by 32 seasoned researchers and clinicians. Judges scored each presentation based on originality, research methods, scientific impact and presentation. Outstanding Oral Presentation and Poster Awards were presented to eight recipients at the conclusion of the conference; these individuals received a certificate and monetary award for first place ($300) and second place ($200) in each category.

Best ORAL Clinical Presentation

  1. Dustin Roberts, Medical Student, David Geffen School of Medicine at UCLA
  2. Steven Kroon, MD, St. Antonius Hospital

Best ORAL Basic Science Presentation

  1. Daniel Snellings, BS, CMB/MGM Graduate Student, Duke University School of Medicine
  2. Jennifer Fang, PhD, University of California - Irvine

Best POSTER Clinical Presentation

  1. Aakanksha Rathor, MD, Stanford Healthcare
  2. Hanny Al-Samkari, MD, Massachusetts General Hospital

Best POSTER Basic Science Presentation

  1. Shreyas Bhave, PhD, Tufts Medical Center
  2. Desi DeMille, PhD, ARUP Laboratories

Patient Stories

Patients are the Key to Science

 


Basic research is the engine that drives the discovery of new drugs and therapies, but it relies on constant input and feedback from clinicians. Results of clinical research provides new insights in the best ways to diagnose and treat HHT. BUT, none of this would be possible without the patient.

This year, the Conference Executive Committee designed the program to start each day with a patient story. Adding a “human element” to a scientific conference gives meaning to why HHT research is so important. The HHT patient and their family are the reason why thousands of scientists, doctors and nurses do what they do every day. We are grateful for the dedicated professionals and for the patients who are willing to participate in research and share their story!

HHT Awareness In Puerto Rico

Raising HHT Awareness in Puerto Rico

In recent years, an underlying mission of the HHT International Scientific Conference is to choose a venue that raises awareness in an underserved area of the world. Prior to choosing Puerto Rico to host the 2019 Scientific Conference, Cure HHT was not aware of any doctors or patients on this Caribbean island. But, thanks to Dr. Miles Conrad, Conference Executive Committee Co-Chair and one of his Residents, the foundation was able to connect with a doctor from the University of Puerto Rico Medical Campus who was treating four pediatric HHT patients. Dr. Wilfredo DeJesus Rojas became our “feet on the ground” and through his efforts we were able to present HHT Grand Rounds to over 30 HHT doctors, residents and medical students. In addition, Revista Medicina y Salud Publica, a medical publication in Puerto Rico, attended the Scientific Conference and will publish an article about the event in their next edition while Mayra Acevedo, a Hispanic journalist, interviewed Dr. DeJesus (University of Puerto Rico), Nicole Schaefer (Cure HHT) and Dr. Miles Conrad (UCSF) through live streaming.

Outcome: Since our first meeting with Dr. DeJesus his HHT practice has grown significantly, in fact, he was contacted by several new patients just during the Facebook Live broadcast. During the conference, Cure HHT connected Dr. DeJesus with Dr. Marcelo Serra, HHT Center Director in Argentina, to provide advice for organizing an HHT Center in Puerto Rico and to share Spanish resources for patients. Dr. DeJesus and his team are fully committed to HHT and hope to plan future HHT awareness activities on the island.

Medical Grand Rounds at the University of Puerto Rico was sponsored by Gerber Medical

“This HHT meeting was an amazing experience. I really enjoyed it. I was able to meet HHT experts around the world that now will be my contacts for any questions about HHT for my patients. But more importantly, I have a new family and new friends. Thank you all for all the work you do!”

- Wilfredo DeJesus Rojas, MD, University of Puerto Rico

Young Clinician Award

Cure HHT Presents Robert I. White, Jr. Young Clinician Award

 

"Dr. Iyer mentors residents, fellows and junior staff and, like Dr. Bob White, Dr. Iyer has demonstrated leadership, scholarship, dedication, collaboration and is a compassionate Champion for HHT. We are grateful for all that he does for the HHT community”

- Marianne Clancy, Cure HHT Executive Director

 

Cure HHT is honored to present the Robert I White Jr. Young Clinician Award to Dr. Vivek Iyer, a compassionate and dedicated clinician devoted to improving HHT care and quality of life for his patients. In addition to providing stellar leadership at the Mayo Clinic HHT Center of Excellence over the last 5 years, Dr. Iyer has collaborated on various research projects, presented at several Cure HHT conferences and his clinical treatment of bleeding for HHT patients has not only been effective but his publications have provided much needed clinical evidence of experience other HHT Center can rely on.

The RIW Award was established in 2004, in recognition of Dr. Robert I. White Jr.’s outstanding contribution to HHT care and to the mentoring of other clinicians in HHT development and research.  This award is given annually to a clinician who embodies Dr. White’s qualities as a compassionate and dedicated clinician, devoted to improving HHT care.