The Role of Genetics in HHT (for patients)

For people who suspect that they might have HHT, this brochure provides an overview of the signs, symptoms, and genetics of HHT and outlines the importance of getting genetic testing to either confirm or rule out an HHT diagnosis. If you suspect that…

Uncovering Your Roots: Decoding Genetic Testing

Discover the power of genetic testing as we uncover the roots of HHT! Join us for an enlightening online education opportunity with Theodore Drivas, MD, PhD, University of Pennsylvania HHT Center of Excellence, and Genetic Counselor, Zahra Girnary, U…

Research Roundtable: An Inside Look at Exciting Clinical Trials

Delve into the exciting clinical research projects underway in HHT! Cassi Friday, PhD will provide an overview of what goes into a clinical trial. Dr. Marie Faughnan (Brain AVM Study), Dr. Keith McCrae (PATH Study), Dr. James Gossage (Pazopanib Trial…

Heartland Regional Genetics Network

Heartland Regional Genetics Network ofrece materiales gratuitos en español para la comprensión de la genética y las enfermedades raras.

A Comprehensive Guide to Managing Your HHT

We’ve taken the International HHT Guidelines and distilled them into easily readable factsheets and checklists that can be filled out and given to your physicians. The result is a beautifully bound and curated 48-page publication, A Comprehensive Gui…

FREE Genetic Testing for Rare Diseases: Rare Genomes Project

The Rare Genomes Project is a patient-driven research project through the Broad Institute that performs full genome sequencing on families with suspected rare disease who do not have a genetic diagnosis. The goal of their project is two-fold: (1) pro…

Bedside to Bench: How the HHT Community Drives Research Initiatives (Recorded)

In March 2020, Cure HHT was 1 of 30 organizations selected to participate in the Chan Zuckerberg Initiative (also known as CZI) Rare is One Project. This ambitious project is lifting up the work that patient communities are doing to accelerate resear…

International HHT Guidelines: Diagnosis

Dr. Justin McWilliams, Co-Director, UCLA HHT Center of Excellence and Katie Wusik, Genetic Counselor for the Cincinnati Children’s Hospital HHT Center of Excellence discuss diagnosing HHT. Dr. McWilliams and Ms. Wusik walk the audience through how a…

International HHT Guidelines – Overview (Recorded)

Join Dr. Marie Faughnan, Director, Toronto HHT Centre of Excellence as she provides an overview of the newly updated International HHT Guidelines and how they are used to set the standard of care globally for the diagnosis and treatment of HHT. Dr. F…

Diagnosis of HHT

Companion factsheet to the My HHT Care Checklists patient resources, and based upon updates from the Second International HHT Guidelines published in the Annals of Internal Medicine in 2020.

My HHT Care Checklist

The “My HHT” checklists are a series of checklists by topic area for people with HHT to self-manage their care and bring to their doctor. These checklists are based on the care recommended in the HHT Guidelines. Start with the “Checklist for My HHT C…

Understanding Your Positive SMAD4 Genetic Result

The Science Behind the 2019 Scientific Conference (recorded)

Philippe Marambaud, PhD and Andy White, MD discuss important advances in HHT research which were presented at the 2019 HHT International Scientific Conference in Puerto Rico. Learn about advancements in drug therapies for bleeding, screening and trea…

Genetic Information Nondiscrimination Act (GINA)

Afraid of genetic discrimination? You are protected by GINA, a federal law that protects individuals from genetic discrimination in health insurance and employment. Genetic discrimination is the misuse of genetic information. This resource provides a…

IVF and Preimplantation Genetic Testing for HHT (recorded)

Katie Wusik Healy, LGC, MS, Genetic Counselor at the Cincinnati HHT Center of Excellence, talks about pre-implantation genetic testing (PGT), including what you might consider before pursuing PGT. In addition, options for determining if a child has H…