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Genetics
Resources regarding the HHT-associated genes and how to facilitate genetic testing and counseling for patients and families.
Related Resources
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The Role of Genetics in HHT (for providers)
Brochure – 2023This brochure gives healthcare providers an overview of the signs, symptoms, and genetics of HHT and outlines the important role that genetic testing plays in the HHT patient journey. Through sharing this brochure with healthcare providers unfamiliar…
MoreAbstracts – 14th HHT International Scientific Conference (2022)
Scientific Literature – 2023Angiogenesis. This article is open access and free for a certain period of time; otherwise, it is available for purchase directly from the publisher. Click to view resource.
MoreExecutive Summary – 14th HHT International Scientific Conference (2022)
Scientific Literature – 2023Angiogenesis. This article is open access and free for a certain period of time; otherwise it is available for purchase directly from the publisher. Click to view resource.
More![](https://curehht.org/wp-content/uploads/2022/05/Heartland-Genetics-Services-Network-300x75.jpg)
Heartland Regional Genetics Network
Español – 2022Heartland Regional Genetics Network ofrece materiales gratuitos en español para la comprensión de la genética y las enfermedades raras.
More![](https://curehht.org/wp-content/uploads/2021/06/RGP-Logo-PNG-300x151.png)
No-Cost Genetic Testing for HHT and Other Rare Diseases: 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 singe gene disorders who do not have a genetic diagnosis. The goal of their project is two-fold:…
More![](https://curehht.org/wp-content/uploads/2021/10/CHRN-Data-Analysis-2021-300x227.jpg)
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…
More![](https://curehht.org/wp-content/uploads/2021/02/Guidelines-Series-1-Faughnan-01-300x254.jpg)
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…
More![](https://curehht.org/wp-content/uploads/2020/12/My-HHT-Care-Checklist_image2-300x183.jpg)
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….
More![](https://curehht.org/wp-content/uploads/2019/11/SciCon-2019-PowerPoint-Slide-1-300x169.jpg)
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…
More![](https://curehht.org/wp-content/uploads/2017/11/gina-300x254.png)
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.
More![](https://curehht.org/wp-content/uploads/2019/07/IVF-Cover-Slide-1-300x223.png)
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 Link![](https://curehht.org/wp-content/uploads/2018/05/Cover-Slide-Copy-300x232.jpg)
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…
MoreRelated News
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A Monumental $128 Million Step Forward for HHT Research
Today is a monumental day for HHT. The new biotechnology company, Diagonal Therapeutics, officially launched and we wanted to share more about why this is news you simply can’t miss! In short, Diagona…
![](https://curehht.org/wp-content/uploads/2021/01/Cure-HHT-RN-Logo_RGB-scaled-wpv_150x100_center_center.jpg)
Cure HHT Research Network: Clinician and Scientist Surveys
January 29, 2021![Independent-IE-Ireland](https://curehht.org/wp-content/uploads/2020/02/Woods-Katie-from-Independent-IE-Ireland.-wpv_150x100_center_center.jpg)
HHT in the News: “I have the same rare disease that killed my brother”
February 25, 2020![](https://curehht.org/wp-content/uploads/2017/12/Living_With_HHT_Book_Cover-e1515597149440-wpv_150x100_center_center.jpg)
Comprehensive HHT Resource: Living with HHT Book
January 17, 2019![](https://curehht.org/wp-content/uploads/2018/11/safe_image-wpv_150x100_center_center.jpeg)