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…

Genetics: Unraveling Your DNA (recorded)

Jaime 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…

HHT Genetic Counseling Services

Your 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…

Genetic Testing and HHT

HHT Scientific Conference Summaries (recorded)

  Drs. 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…

Surgeon General’s My Family Health Portrait

Completing your family tree is a critical first step in identifying family members who may have inherited HHT. Provided by the Surgeon General, “My Family Health Portrait” is an internet-based tool that makes it easy for you to record your family hea…

Executive Summary – 12th HHT International Scientific Conference (2017)

Angiogenesis. 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…

Learn About HHT Genetic Testing

Genetic 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…

Family Ties: Genetic Testing

As 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…

Executive Summary – 11th HHT International Scientific Conference (2015)

Angiogenesis. Authors: Helen Arthur, Urban Geisthoff, James R. Gossage, Christopher C. W. Hughes, Pascal Lacombe, Mary E. Meek, Paul Oh, Beth L Roman, Scott O. Trerotola, Sebastiaan Velthuis, and Whitney Wooderchak-Donahue. This article can be purcha…

Hereditary Hemorrhagic Telangiectasia: Genetics and Molecular Diagnostics in a New Era

Frontiers in Genetics. Authors: Jamie McDonald, Whitney Wooderchak-Donahue, Chad VanSant Webb, Kevin Whitehead, David A. Stevenson and Pinar Bayrak-Toydemir. This article is available for public use and does not require purchase. Click to view the fu…

Genetic Testing for HHT

JCOM. Author: Barbara A. Bernhardt, MS, CGC. This article is available for public use and does not require purchase. Click to view the full article.

HHT: An Overview of Diagnosis, Management and Pathogenesis

Genetics in Medicine. Authors: Jamie McDonald, MS, Pinar Bayrak-Toydemir, MD, PhD, and Reed E. Pyeritz, MD, PhD. This article is available for public use and does not require purchase. Click to view the full article.