
Genetics
Resources regarding the HHT-associated genes and how to facilitate genetic testing and counseling for patients and families.
Related Resources

Patient Symptom & Care Checklists
Provider Tool – 2020Download and distribute “My HHT Care Checklists” to patients to complete and return to you, including: HHT Care, HHT Diagnosis, Anemia, Brain VMs, Pediatric, Teen Years, Nosebleed, GI Bleeding, Liver VMs, Pregnancy & Delivery, and Pulmonary AVMs….
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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…
MoreAbstracts – 13th HHT International Scientific Conference (2019)
Scientific Literature – 2019Angiogenesis. This article can be purchased directly from the publisher. Click to view the article description and purchase options.
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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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HHT Scientific Conference Summaries (recorded)
Webinar – 2018Drs. Hughes, Faughnan and Andrejecsk provide a first hand synopsis of the HHT science presented in Dubrovnik, Croatia where over 200 voices were heard from 23 countries. They reviewed the 12th HHT International Conference Executive Summary of…
MoreAbstracts – 12th HHT International Scientific Conference (2017)
Scientific Literature – 2017Angiogenesis. This article can be purchased directly from the publisher. Click to view the article description and purchase options.
MoreExecutive Summary – 12th HHT International Scientific Conference (2017)
Scientific Literature – 2017Angiogenesis. Authors: Jillian W. Andrejecsk, Anna E. Hosman, Luisa M. Botella, Claire L. Shovlin, Helen M. Arthur, Sophie Dupuis-Girod, Elisabetta Buscarini, Christopher C. W. Hughes, Franck Lebrin, Christine L. Mummery, Marco C. Post, and Johannes…
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Learn About HHT Genetic Testing
Article – 2017Genetic testing is a critical component of your HHT journey and family history. Get answers to the most commonly asked genetic testing questions. Specifically, it is useful in confirming a diagnosis of HHT and identifying family members who may have…
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Family Ties: Genetic Testing
Fact Sheet – 2016As a hereditary disease, HHT has the potential to devastate families if not identified and treated. Some of the most easily identifiable symptoms of HHT don’t manifest until adolescence or adulthood. Be proactive and identify affected family members…
MoreRelated News

International HHT Guidelines: Overview & My HHT Care
International HHT Guidelines Webinar Series Topic: Guidelines Overview & My HHT Care Wed., March 3th | 7 p.m. (ET) Join Dr. Marie Faughnan, Director, Toronto HHT Centre of Excellence…

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