UTHealth Genomic Medicine Guidance App

The UTHealth Genomic Medicine Guidance app is designed for use as a point-of-care decision support tool by clinicians. The app contains genetic and clinical information about eight genes that cause heritable thoracic aortic disease: ACTA2, MYH11, MYLK, PRKG1, SMAD3, TGFB2, TGFBR1, and TGFBR2. 

After selecting curated pathogenic or likely pathogenic variants from a dropdown list, the app outputs gene and variant-specific recommendations for surveillance and clinical management.

Users can also submit information about novel variants. The overall goal of this app is to promote gene-based management of thoracic aortic disease in clinical practice.

After visiting the app, please complete the survey at the end of the output page, which allows you to enter comments and provide feedback.

To view a PowerPoint on the development of the app, click here.

Exploiting Advantages of the Zebrafish Model for the Study of Aortopathies Webinar

The GenTAC Alliance Basic and Translational Science Working Group hosted a webinar titled, “Exploiting Advantages of the Zebrafish Model for the Study of Aortopathies,” on January 18, 2023. 

In this webinar, speakers discussed recent progress with mutant zebrafish models, including their ability to provide clinically pertinent clues regarding true pathogenicity. 

Webinar speakers are: 

• John Elefteriades, MD (Yale University, USA)  
• Andrew Prendergast, PhD (Yale University, USA) 
• Mary Sheppard, MD (University of Kentucky, USA) 
• Jakub Famulski, PhD (University of Kentucky, USA)
• Patrick Sips, PhD (Ghent University, BE) 

Transcriptional and Epigenetic Factors in the Generation of Thoracic Aortic Disease Webinar

On December 1, 2022, four experts in the field of epigenetics and transcriptional mechanics of the ascending aorta discussed their research and its implications in the generation of thoracic aortic disease (TAD) in patients with a bicuspid aortic valve (BAV). 

Webinar speakers were:

• Evaldas Girdauskas, MD, PhD (University Hospital Augsburg, Augsburg, DE)
• Maria Grazia Andreassi, PhD (CNR Institute of Clinical Physiology, Pisa, IT)
• Steven Greenway, MD (University of Calgary, Calgary, CA)
• Calogera Pisano, MD (University of Tor Vergata, Rome, IT)

iPSC Models of Thoracic Aortopathies: Possibilities and Challenges

On October 26, 2022, a webinar titled, "iPSC Models of Thoracic Aortopathies: Possibilities and Challenges," provided state of the art examples of using induced pluripotent stem (iPS) cells for modeling thoracic aortic disease in Loeys-Dietz syndrome and Marfan syndrome. The talks highlighted how pathological mechanisms can be investigated, new drug treatments tested, and importantly, the challenges and pitfalls to be aware of for those new to this field.

Webinar speakers were:

• Dogukan Mizrak, PhD (University of Michigan)
• Hongorzul Davaapil, PhD (University of Cambridge)

Machine learning and cardiovascular disease: New tools for diagnosis and clinical risk prediction

On June 14, 2022, Dr. James Priest (Stanford University) and Dr. James Pirruccello (Massachusetts General Hospital) presented on recent advances related to the application of artificial intelligence (AI) to improve our understanding of aortic diseases.

Biomechanical Factors Driving Thoracic Aortopathies Webinar

On February 9, 2022, Jonathan Weinsaft, M.D. (Cornell Medical) and Chiara Bellini, Ph.D. (Northeastern Bioengineering) highlighted recent advances in medical imaging-based assessments in patients of the hemodynamic loads imparted on the thoracic aorta and assessments of associated consequences on aortic wall integrity in humans as well as in multiple mouse models of thoracic aortic aneurysms.

Translation of Therapeutics from Mice to Men Webinar

On November 10, 2021, Dr. Mark Lindsay (Massachusetts General Hospital) and Dr. Mary Sheppard (University of Kentucky) discussed selected therapeutic strategies and current challenges in the development of medicines for Marfan syndrome.

Advances in the Treatment of Aortic Dissection Webinar

The GenTAC Alliance’s Patients, Families, & Clinicians Education Working Group presented a webinar on Advances in the Treatment of Aortic Dissection on May 12, 2021. The featured speakers were Dr. Marc Moon and Dr. Westley Ohman, from Washington University School of Medicine and Barnes Jewish Hospital.

COVID Webinar

On April 26, 2021, GenTAC Chair Dr. Kim Eagle provided a COVID-19 update for the Marfan, Loeys-Dietz, and VEDS community. Dr. Eagle was joined by Senior White House Advisor Dr. Marcella Nunez-Smith, who is Chair of the DHHS COVID-19 Health Equity Task Force, and pulmonologist Dr. Enid Neptune, from Johns Hopkins.

Mouse Model Genetics: The Significance of Genetic Background on Aortopathy Phenotype Webinar Now Available

In this webinar, Dr. Hal Dietz (Johns Hopkins Medicine) discusses the impact of genetic background on the vascular phenotype in mouse models of Marfan syndrome and Vascular Ehlers-Danlos syndrome.

Image Sharing Using Trice Cloud Platform Webinar

In this webinar, Dr. Siddharth Prakash (UTHealth) introduces the cloud sharing platform, Trice, and explains how users can leverage Trice to exchange images, and conduct collaborative projects more quickly and easily across the GenTAC Alliance.

GenTAC Aortic Summit Highlights Webinar

Dr. Kim Eagle, chair of the GenTAC Alliance, and Dr. Josephine Grima, chief science officer of The Marfan Foundation, presented highlights of the GenTAC Aortic Summit 2020 at a webinar for the Marfan and related conditions community on November 19. The recording of the webinar is now available.

GenTAC Alliance Statement on FDA and PRAC Warning Concerning Fluoroquinolones

GenTAC Alliance Webinar: Trice Cloud Based Imaging Platform Overview and Q&A

Dr. Siddharth Prakash (Chair, Biospecimens and Data Working Group) hosted a webinar to explain Trice Imaging, a cloud-based platform that allows physicians to securely upload and share images/videos on collaborative research projects. Dr. Prakash described potential applications for GenTAC members as well as hosted a Q&A session.

GenTAC Alliance Honors Desvigne-Nickens, Pyeritz, and Tolunay

The GenTAC Alliance honored three giants in the field of aortic disease at the kick-off of the GenTAC Aortic Summit 2020 on October 8: H. Eser Tolunay, PhD, Patrice Desvigne-Nickens, MD, and Reed Pyeritz, MD, PhD.

Single Cell Sequencing Webinar

On May 12, 2020, Dr. Scott LeMaire (Baylor College of Medicine), Dr. Ying Shen (Baylor College of Medicine), Dr. George Tellides (Yale University), and Dr. Mo Wang (Yale University) delivered a webinar titled "Single Cell Sequencing."

GenTAC Alliance Clinical Science Vice Chair Sherene Shalhub continues collaborative research on Vascular EDS with support of PCORI Engagement Award!

We’re pleased to announce GenTAC Alliance Clinical Science Working Group Vice Chair, Sherene Shalhub’s receipt of two research awards.

Eugene Washington PCORI Engagement Award: Engaging Patients with Type B Aortic Dissections as Partners in Patient-Centered Outcomes Research.

With this two-year, $250,000 award, Dr. Shalhub is studying patients with type B aortic dissection (TBAD) who face complex decisions with regards to the management of their aortic dissection.  The objective of this initiative is to build a collaborative aortic dissection research infrastructure that will facilitate patient centered outcomes research training, support, and networking among patients with TBAD, surgeons, cardiologists,  researchers, industry stakeholders, and patient advocacy groups. The main outcome of this work is to assemble a broad network of patients with TBAD and stakeholders, who are well informed and who will guide the research prioritization in TBAD research.

Dr. Shalhub and her collaborators anticipate that as they work together, they will identify findings that are relevant to daily clinical practice and can be immediately adapted for wide dissemination and will identify TBAD related knowledge gaps that would benefit from patient centered outcomes research and comparative effectiveness research.  Creation of the community will also allow us to evaluate patients’ willingness to participate in future randomized TBAD related research studies which are very much needed for this disease process. 

The award time: 8/1/2019-7/31/2021

Vascular Ehlers-Danlos Syndrome Patient-Centered Research Conference award.

This is a one year $50,000 Eugene Washington PCORI Engagement Award that builds on the successful work of creating the Vascular Ehlers-Danlos Syndrome collaborative which was funded by the PCORI Tier A Pipeline to Proposal award in October 2017. The goal is to bring a much larger stakeholder group together (patients, advocacy organizations members, physicians, researchers, and industry) and review the questions feasibility to create feasible patient centered outcomes research (PCOR) and comparative effectives research (CER) projects eligible for funding.

This award time is 2/4/2019-2/3/2020

Website: https://www.vedscollaborative.org/

Update on Clinical Trials of Losartan With andWithout β-Blockers to Block Aneurysm Growth in PatientsWith Marfan Syndrome

New review by Marion A. Hofmann Bowman, MD, PhD; Kim A. Eagle, MD; Dianna M. Milewicz, MD, PhD on the the results of clinical trials using β-blocker, losartan potassium, and irbesartan in patients with Marfan syndrome and comments briefly on mechanisms of aortic remodeling, including fibrosis and transforming growth factor β signaling. 

Reflections from the ACC. 2019

Check out Dr. Kim Eagle’s presentation at American College of Cardiology Annual Scientific Sessions 2019 titled, “Acute Aortic Dissection: Lesson Learned from 9000 Patients Presentation. Dr. Eagle outlines how approaches to diagnosis, treatment, and outcomes of acute aortic dissection have changed over the last 25 years. He reflects on what we have learned and where we need to go in the next 25 years.