
Genetics
Resources about the importance of genetic testing and how to obtain genetic testing and counseling for patients and families.
Related Resources

Research Roundtable: An Inside Look at Exciting Clinical Trials
Webinar – 2023Delve 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…
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Heartland Regional Genetics Network
Español – 2022Heartland Regional Genetics Network ofrece materiales gratuitos en español para la comprensión de la genética y las enfermedades raras.
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A Comprehensive Guide to Managing Your HHT
Brochure, Fact Sheet, Patient Tool – 2022We’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…
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The Rare Genomes Project
Organization, Patient Tool, Provider Tool – 2022The 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…
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Bedside to Bench: How the HHT Community Drives Research Initiatives (Recorded)
Webinar – 2021In 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…
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International HHT Guidelines: Diagnosis
Webinar – 2021Dr. 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…
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International HHT Guidelines – Overview (Recorded)
Webinar – 2021Join 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…
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Diagnosis of HHT
Fact Sheet – 2021Companion 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.
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My HHT Care Checklist
Guidelines, Patient Tool – 2020The “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…
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The Science Behind the 2019 Scientific Conference (recorded)
Webinar – 2020Philippe 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…
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Genetic Information Nondiscrimination Act (GINA)
Government – 2020Afraid 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…
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IVF and Preimplantation Genetic Testing for HHT (recorded)
Webinar – 2019Katie 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…
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Genetics: Unraveling Your DNA (recorded)
Webinar – 2018Jaime Jessen, BSc, MSc, CGC, Certified Genetic Counselor and Medical Science Liaison at Impact Genetics and LabCorp, provides an informative presentation on the inheritance pattern of HHT, how to identify your family gene mutation and the benefits an…
MoreHHT Genetic Counseling Services
Brochure – 2018Your doctor may refer you to a genetic counselor to discuss your risk for HHT and your genetic testing options. The role of a genetic counselor is to help you better understand your genetic risks and the tests available to you. Most HHT Centers of Ex…
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