Anthony’s Swim for HHT!

RECAP: 12th HHT International Scientific Conference

For the first time at an HHT Conference, voices were heard from six continents, motivating interest for those new to the field, and encouraging young researchers and clinicians to continue to build a career surrounding HHT. The attendance of young scientists was at an all-time high and the conference was buzzing with the excitement of knowledge and opportunity – a buzz that could literally be heard during breaks and mealtimes when researchers and clinicians stood together plotting the destruction of HHT.

 

 

195 HHT scientists, many new to the community, traveled from far and wide to Dubrovnik, Croatia – the “Pearl of the Adriatic” – for the 12th HHT International Scientific Conference. A strategic location choice; if the exciting new breakthroughs in HHT research wasn’t enough to lure scientists to Dubrovnik, then the vast beauty of mountains and sea most certainly would be. While enticing, this great beauty was not distracting, as scientific discussion of mechanisms, diagnosis, and treatment of the disease raged on, fueled by espresso and 6am dips in the Adriatic.

 

It was truly amazing to see the array of information presented at this meeting in the form of 8 invited speakers, 58 oral presentations, and 117 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. Enjoy these photos from the conference.

Oral Presentation Abstracts, Poster Presentation Abstracts and an Executive Summary of the talks and workshops will be published in the October 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, check out the Basic Science Summary Presentation presented by Dr. Carmelo Bernabeu and the Clinical Science Summary Presentation presented by Dr. Urban Geisthoff.

 

 

Cure HHT was honored to provide prizes for the best young scholar presentations. Congratulations to our winners!

HHT Young Scholar Travel Awardees

Clinical Oral Presentations

  1. Ali Tayebi-Meybodi, University of California San Francisco, USA
  2. Daniel DePietro, University of Pennsylvania, USA

Basic Science Oral Presentations

  1. Elisa Rossi, Université Paris Descartes, France
  2. Whitney Wooderchak-Donahue, University of Utah / ARUP Laboratory, USA

Clinical Poster Presentations

Anna Hosman, Netherlands

  1. Anthony Cannavicci, University of Toronto / St. Michael's Hospital, Canada
  2. Anna Hosman, St. Antonius Hospital, Netherlands

Basic Science Poster Presentations

  1. Sara Plumitallo, University of Pavia, Italy
  2. Melissa Hector-Greene, Duke University, USA

 

Thank You!

We'd like to give an enthusiastic thank you to everyone who contributed to this conference both scientifically and financially. Your dedication 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
  • Invited Speakers
  • Judges and Session Chairs
  • Patients and Volunteers
  • Sponsors and Exhibitors
  • Donors who support Cure HHT and all of our research and education activities

 

Conference Program Exec. Committee

Conference Program Committee

Invited Speakers

HHT Patients

Conference Sponsors & Exhibitors

 

 

HHT Global Awareness Day

Today is June 23, 2017 and it’s HHT Global Awareness Day! As a person who has HHT disease and the author of a new book called Living with HHT, I’m excited to be part of this special day devoted to HHT awareness—and I hope my book will contribute to HHT awareness every day.  If you’re like most people, you’re probably asking, what in the world is HHT? That’s because most people, including most doctors, have never heard of HHT. In fact, most people who have HHT don’t know that they have it! Which is precisely why awareness is critical to identifying and treating people who have this uncommon, but not-so-rare disease.

So what is it? HHT (Hereditary Hemorrhagic Telangiectasia) is a genetic blood vessel disorder, affecting approximately 1 in 5000 people, or 1.4 million people worldwide. HHT occurs in all ethnic and racial groups, and affects both men and women. If someone has HHT, each of their children has a 50% chance of inheriting the disease, which is caused by a mutation in one of several genes involved in blood vessel development. HHT results in some malformed blood vessels in which there is a direct connection between an artery and a vein, and normal capillaries (the smallest blood vessels) are missing. These abnormal blood vessels (called telangiectasias or arteriovenous malformations (AVMs)) can occur in the nose, gastrointestinal tract (gut), on the skin, or in the lungs, brain, or liver.

Nosebleeds are the most common and visible symptom of HHT, affecting about 95% of people with the disorder. Bleeding from the nose or from the gut can cause iron deficiency and anemia, sometimes requiring blood transfusions. AVMs in the liver rarely cause problems, but in some people, result in liver or heart failure. AVMs in the lungs and brain are invisible and often cause no symptoms, but can lead to sudden, devastating medical events, including brain or lung hemorrhage (bleeding), stroke and brain abscess. People who don’t know they have HHT or have not been screened for AVMs are vulnerable to these tragic events. Yet with proper diagnosis and treatment, almost all of these medical events can be prevented. HHT awareness can prevent serious disability and even save peoples’ lives.

How I become AWARE of HHT: Although I've had daily nosebleeds for most of my life, I wasn’t diagnosed with HHT until my mid-30s, after becoming severely anemic from chronic blood loss. My doctor suspected HHT but knew little about it. But I called the HHT Foundation (now Cure HHT) and they referred me to the Yale HHT Center of Excellence (there are now 25 of these HHT specialty care centers in North America and more around the world) where my diagnosis was confirmed and I was treated for my lung AVM.  I was fortunate to get my diagnosis and get screened for AVMs (I had one in my lungs that needed treatment) before having any disabling medical events. Treatment for my lung AVM reduced my chance of a stroke, and iron pills improved my anemia and restored my energy. My mother, who was completely without symptoms at the time of my diagnosis, was screened for HHT because she had a few nosebleeds as a young adult, and the finding of small AVMs in her lungs confirmed her diagnosis. My children were also screened and one had laser treatment for nosebleeds. There is now a genetic test for HHT, making diagnosis much easier.

In 2002, when I attended my first HHT Foundation Patient and Family conference, I met other patients who were not as fortunate as I was; some had strokes or brain abscesses before they were diagnosed with HHT. After learning that many people with HHT around the world were suffering preventable medical complications due to lack of proper diagnosis, I was prompted to become a volunteer with the HHT Foundation. Over the past 15 years, I’ve participated in walks, runs, and other local fundraising and awareness events, co-led a regional support and education group for HHT patients, and been a legislative advocate during Capitol Hill Days. Currently, I’m a volunteer member of the Cure HHT Board of Directors.

Why I wrote a book about HHT: In my professional life as a rehabilitation psychologist, I’ve specialized in helping people live better lives with chronic illness and disability. I’ve co-authored several Johns Hopkins Press Health Books about the medical, emotional and social aspects of various disabilities.  I saw a unique opportunity to combine my professional expertise and my personal experience with HHT to help other patients. Several years ago, I began presenting lectures and small group discussions at HHT Patient and Family Conferences on the emotional and family impact of HHT. I also wrote some HHT fact sheets and created a webinar on managing the psychosocial aspects of HHT.

After years of interacting with people who have HHT,  I’ve learned that many patients—even after going to HHT conferences or specialized treatment centers—don’t fully understand what HHT is all about or how to take care of themselves and their families.  Families have a difficult time talking about HHT and understanding that if one person is diagnosed with HHT, multiple family members may be at risk. There’s a lot of denial and resistance to getting screened and treated, even in families who’ve already had tragic medical events. What’s more, the emotional effects of HHT, including sadness, anxiety, grief, stress and relationship problems have an impact on quality of life for most people with HHT, but there’s little professional guidance on how to manage them.

So I decided to write a book about HHT explaining the complex medical aspects of the disease in every day, non-medical language and addressing the emotional and family issues associated with HHT. The book is for people who have HHT (or think they might have it), for their families, and for health care providers who want to learn about HHT diagnosis, treatment and research.

I hope that Living with HHT: Understanding and Managing Your Hereditary Hemorrhagic Telangiectasia, will raise your awareness about HHT. Perhaps it will help you identify a friend or coworker who has HHT. If you’ve been diagnosed with HHT, I hope the book will teach you everything you need to know to manage and cope with your disease, get proper treatment, care for your family and live the healthiest life possible.

Happy HHT Global Awareness Day!

For more information on HHT, visit www.curehht.org

 

Sara Palmer, PhD, is a psychologist and an assistant professor in the Department of Physical Medicine and Rehabilitation at Johns Hopkins University School of Medicine. She is the coauthor of Spinal Cord Injury: A Guide for LivingWhen Your Spouse Has a Stroke: Caring for Your Partner, Yourself, and Your Relationship; and Just One of the Kids: Raising a Resilient Family When One of Your Children Has a Physical Disability. Her latest book, Living with HHT: Understanding and Managing Your Hereditary Hemorrhagic Telangiectasia, comes out this December.

HHT Research Update

5 Cure HHT Grants Fund Research Breakthroughs

Research is the answer to curing HHT, and it is Cure HHT’s highest priority. Our Young Researchers program attracts the best and brightest to HHT research early in their careers, resulting in continued dedication to the cause. Preventing this disease in the next generation means securing breakthroughs now.

Cure HHT was able to award $30,000 grants to the following young scholars with your support. Here is what they have been up to over the last year!

 

Hongyu Tian, PhD with Duke University

Goal: To determine endoglin's role in regulating the biology of vascular smooth muscled cells, the cells responsible for stabilization of blood vessels, during developmental angiogenesis and its relation to HHT.

Update: Using CRISPR technology, the study found important new information about the weakening of blood vessels during development.

Next Steps: The study will expand into mice models and the same steps will then be repeated using HHT cells.

 

Wan Zhu, PhD with the University of California, San Francisco

Goal: To treat brain AVMs in HHT patients through gene therapy using a noninvasive strategy injecting a viral vector into the localized site to bind VEGF and inhibit VEGF pathogenic effects, and to extend this treatment for AVMs in other organs.

Update: The findings of this study have been submitted for publication in the Journal of Stroke. Once the findings are publically presented, more details will be made available.

Next Steps: Testing will continue in mice models to develop a groundbreaking treatment.

 

 

Chadwick Davis, PhD with University of Utah and Recursion Pharmaceuticals

Goal: To discover a known drug to be repurposed to successfully treat HHT by characterizing ENG, ACVRL1 and SMAD4 deficient cell lines using RNAi and identifying known drugs that fully or partially ameliorate the HHT phenoprint.

Update: After analyzing 700 quantified features, a screenable phenotype associated with SMAD4 was identified.

Next Steps: Recursion will perform a drug screen of their entire compound library to search for additional targets in ENG and ACVRL1.

 

Simon Tual-Chalot, PhD with Newcastle University

Goal: To investigate how endothelial endoglin maintains adult vasculature to protect against high output heart failure in mice models as it is associated with HHT.

Update: The study provided new, important discoveries about how mechanism procedures affect heart failure in HHT.

Next Steps: Understanding the relationship between endoglin function and VEGF signaling will be a major focus moving forward.

 

Whitney Wooderchak-Donahue, PhD with University of Utah and ARUP Laboratories

Goal: To identify additional genetic modifiers in HHT to determine if the variability of HHT is caused by mutations in additional genes or genetic modifiers critical to vascular development.

Update: More than 160 samples have been collected from two families with ACVRL1 mutation spanning eight generations, including relatives as distant as 13th degree. The access to distant relatives’ RNA facilitates identification of genetic modifiers that may influence development of AVMs in certain family members.

Next Steps: Select patients will undergo transcriptome sequencing, and data will be compared against controls to identify genetic modifiers of AVMs in HHT. This data will be used to guide subsequent experiments in which RNA will be evaluated and analyzed to identify new genes and genetic modifiers.

*Please note a more detailed report will be made available once each researcher presents or publishes their findings. The good news is four of them will be presenting in June at the HHT International Scientific Conference!*

Take Action: Protect Your Insurance

Take Steps to Block the American Health Care Act in the Senate!

The American Health Care Act (HR 1628) was passed in the House on May 4th, and will now be moving to the Senate for final consideration. This bill would eliminate insurance protections for those with pre-existing conditions - including genetic diseases like HHT.

Cure HHT is banning together with fellow advocacy groups to make sure this bill is voted NO in the Senate.

We need you to join the fight and tell your representatives to vote NO on the AHCA!

The need for action has never been more urgent!

Take Action - Contact Your Representatives

Call, email or write your representatives using this template letter as a guide.


How The AHCA Will Affect You

  • Individual states would be allowed to define “Essential Health Benefits,” meaning many of the basic services covered by the ACA -- such as prescription drugs, maternity care, mental health, emergency services, hospitalization – may no longer be covered.
  • Because annual and lifetime limits apply only to essential health benefits, insurers could put a cap on how much care one receives, but not on how much people owe. Treatment costs for major diseases are incredibly expensive and could easily bankrupt those in need.
  • Because treatments and medications for the HHT community can be very expensive, the elimination of essential health benefits essentially renders meaningless the ACA’s protections against insurance discrimination for those with “pre-existing medical conditions.”
  • Even if you get your health insurance through an employer, the new legislation could dramatically increase your costs while also reducing benefits.

Hetts Receives Young Clinician Award

 

Dr. Steven Hetts

Co-Director of University of California at San Francisco HHT Center

Associate Professor in Residence of Radiology and Biomedical Engineering

"The care I provide for patients with HHT is inspiring to me and a highlight of my career. An award associated with a true pioneer in the field of HHT is humbling and deeply meaningful to me."

Cure HHT is honored to present the Robert I White Jr. Young Clinician Award to Dr. Steve Hetts, a driven, intelligent asset to the HHT medical team. Not only was he instrumental in starting the HHT Center of Excellence at UCSF, he has continued to educate the HHT community as a whole at family conferences as well as the medical community at HHT-related seminars.

When he's not in the doctor's office, he can be found in the lab, developing novel image-guided endovascular devices and techniques for the treatment of stroke, tumors, vascular malformations  and other conditions accessible through the blood vessels or skin.

He has been the principal investigator on an NIH-sponsored project to develop remote-controlled endovascular catheters for use in interventional MRI. This could revolutionize outside stroke treatment, allowing doctors to visualize living versus dead brain tissue in real-time during their surgeries!

"He lit the spark and aided by his creativity, perseverance and serious academic interest in vascular malformations, he helped focus a large quorum of passionate individuals at UCSF who want to make HHT a disease of the past. And, he made it look easy."

- Dr. Miles Conrad, Co-Director UCSF

"Dr. Hetts brings a dedicated passion to his treatment of HHT patients and participation in the Cure HHT mission. He is always invigorating peers and mentees in various projects, championing ideas and following through. We are lucky to have him on our team!"

- Marianne Clancy, Executive Director Cure HHT

Cure HHT Needs You!

Top 5 Ways Your Donation Matters

#HHTFamCon 2016

More than 200 people attended the HHT National Patient and Family Conference in Boston, representing seven countries with people traveling from as far as Sweden, Japan, England and Australia. They attended more than 20 educational sessions led by experts in HHT treatment and research during the three-day event. Together, they generously raised more than $75,000 toward the Cure HHT mission.

But the 18th HHT National Patient and Family Conference was so much more than a listing of numbers. It was a whole weekend dedicated to connecting the different parts of our HHT community – bringing researchers, doctors and patients together to continue toward a HHT-free future.

Patients were able to chat one-on-one with doctors over breakfast; researchers volleyed theories during the poster sessions to improve projects; young scholars sat with mentors between session discussing HHT science; and kids with HHT met others their age for the first time.

Thank you for making the 2016 #HHTFamCon one of the best Cure HHT conferences. We can’t wait to do it again in two years! Click here to see the top 100 photos from #HHTFamCon.

Conference Breakthroughs

HHT Mobile App – A team from University of Michigan is working to develop an interactive mobile HHT app that includes education resources, patient checklist for appointments and test results, self-monitoring, customized notifications and patient-provider communication.

Beyond Avastin - Clinical and basic science researchers are looking at a variety of FDA approved drugs (anti-inflammatory and MTOR inhibitors) to be repurposed for use in HHT to keep AVMs from developing or reversing AVMs that already exist.

Cancer & HHT- Patients with HHT and certain kinds of cancer show slower onset and progression of the cancer and better survival outcome due to the inability of their tumors to vascularize and grow. The survival benefit of HHT status across multiple cancer may present a new therapeutic line of investigation for these cancers.

Available for Purchase

img_7352

img_7257

img_7495

img_7534

img_7827

Special Thanks To:

Silver Sponsors: Burroughs Wellcome Fund, Olitsky Family Foundation
Bronze Sponsors: Actelion, B. Braun CeGaT, Cook Medical, Massachusetts General Hospital, NewYork-Presbyterian/Columbia University Irving Medical Center, Silber and Weissel Families
HHT Center of Excellence Sponsors: ARUP Laboratories, Cincinnati Children’s Medical Center, Yale University
Unique Program Sponsors: Anonymous Donor Family, Nancy Padgett
Exhibitors: Actelion, Bon-nare, Invitae, Medtronic, Stanford Medicine
Give Aways: BleedCEASE, Massachusetts General Hospital
Scholarship Fund Donors: This support allowed seven adults and three children to attend.
Volunteers: Charles Bukauskas, Angela Carlisle-Brown, Brittney Conger, Lindsey Conger, Sam Current, Art Gutkowski, Frank Linke, Marijo McCune, Jody Nissan, Annette Sercombe and Roz Youngert

Scientific Conference Registration

logo-hht_12th_scientific_conference

Get Early Bird Prices While They Last!

Discounted Hotel Rates Available:

Single Occupancy €179
Double Occupancy €189

Early Bird Registration Expires
April 15:

Save $75 on registration costs!

Advances in HHT treatment and therapies are impossible without the collaboration of researchers and clinicians like you.

Join us at the largest scientific HHT meeting in the world!

This is your chance to be part of major breakthroughs inspired by cross-disciplinary presentations and discussions at the HHT International Scientific Conference.

Dates: June 8-11, 2017 (June 7th Welcome Reception)
Book Your Hotel Now: Radisson Blue Resort & Spa, Dubrovnik Sun Gardens, Croatia

Agenda         Pricing        Hotel

Have questions? Contact Nicole Schaefer at [email protected] or 410-357-9932.

 

Cure HHT Launches 25th Center in 25 Years

cin-childrens

Cincinnati HHT Center of Excellence

Cincinnati Children's Hospital and University of Cincinnati Medical Center

Medical Director: Adrienne Hammill, MD, PhD
Associate Director: Manish Patel, DO
Patient Coordinator: Melissa Morris
Make an Appointment: 513-636-2084

“This new center is an expert clinical and research center that has true compassion for HHT patients as well as the comprehensive care necessary to treat the disease,” said Cure HHT Executive Director Marianne Clancy. “We are very excited to have them as part of our treatment network and partners in research.”

The Cure HHT organization is celebrating 25 years of research, advocacy, education and awareness with the launch of its 25th HHT Center of Excellence. The Cincinnati HHT Center of Excellence includes specialists from Cincinnati Children’s Hospital and University of Cincinnati Medical Center to provide complete care for HHT patients of all ages.

The Cincinnati team, led by Dr. Adrienne M. Hammill, is equipped to offer all-inclusive level of care for those with HHT, from initial evaluation, diagnosis and genetic testing to the development of a treatment plan and management of that plan. The adult and pediatric interventional teams work in tandem to provide for seamless care across the lifespan, with particular expertise in treating children with brain and lung AVMs.

 cchmc_rgb_digital

 

cin-uni

Following an initial evaluation, the HHT team will develop a comprehensive treatment plan with the family.  Our adult and pediatric interventional teams work in tandem to provide comprehensive care for patients across the lifespan, with particular expertise in treating children with brain and lung AVMs.

adrienne-hammill

 

Dr. Adrienne Hammill is trained in pediatrics and hematology/oncology with an interest in bringing new medical therapy options to the treatment of vascular anomalies. She specializes in vascular malformations affecting the brain through her collaboration with the Cerebrovascular Clinic housed in Neurosurgery, and has worked tirelessly to bring a HHT Center of Excellence to Cincinnati. She currently serves as Medical Director of the Hemangioma and Vascular Malformations Center. Dr. Hammill earned her MD and PhD degrees at the University of Texas Southwestern Medical Center and completed her residency and fellowship at Cincinnati Children’s Hospital Medical Center.

Specialties at the Cincinnati HHT Center of Excellence

Cardiology        Dentist/Oral Surgeon        Dermatology        Genetics/Genetic Counseling        Gastroenterology
Hematology        Interventional Radiology        Neurology        Neurointerventional Radiology        Neuroradiology
Neurosurgery        Oncology        Otolaryngology (ENT)        Pulmonology