Genetics
Resources about the importance of genetic testing and how to obtain genetic testing and counseling for patients and families.
Related Resources
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…
Direct LinkGenetics: 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…
MoreHHT 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…
MoreSurgeon General’s My Family Health Portrait
Brochure – 2017Completing 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…
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…
MoreLearn 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…
MoreFamily 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…
MoreExecutive Summary – 11th HHT International Scientific Conference (2015)
Scientific Literature – 2015Angiogenesis. 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…
MoreHereditary Hemorrhagic Telangiectasia: Genetics and Molecular Diagnostics in a New Era
Scientific Literature – 2015Frontiers 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…
MoreGenetic Testing for HHT
Scientific Literature – 2012JCOM. Author: Barbara A. Bernhardt, MS, CGC. This article is available for public use and does not require purchase. Click to view the full article.
MoreHHT: An Overview of Diagnosis, Management and Pathogenesis
Scientific Literature – 2011Genetics 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.
MoreHereditary Hemorrhagic Telangiectasia: Diagnosis and Management
Scientific Literature – 2010American Family Physician. Author: Scott E. Olitsky. This article is available for public use and does not require purchase. Click to view the full article.
MoreHHT: A Clinical and Scientific Review
Scientific Literature – 2009European Journal of Human Genetics. Authors: Fatima S. Govani and Claire L Shovlin. This article is available for public use and does not require purchase. Click to view the full article.
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HHT Continuing Education Program for medical professionals
We are excited to announce the launch of the HHT Continuing Education Hub, an online platform through which providers of all specialties can take courses on various HHT topics! Many medical providers…