Connect Issues Winter 2022

Foundation Grants Critical to Research, Potential Cure

“Innovative and ground-breaking research in any field cannot be done without pilot funding to support early-stage exploratory studies capable of producing long-term advances that improve clinical care,” said Dr. Jonathan Weinsaft, a cardiologist, cardiovascular imager, and professor at Weill Cornell Medicine. “Large- scale federal research is important and ultimately necessary for this process, but it can't support the process in isolation. Funding from organizations such as The Marfan Foundation enables early-stage research to occur.” Pilot Funding Allows for Large Scale Research Based on Dr. Weinsaft’s experience, grants awarded for rare diseases can be inadequate since most funding is provided for larger-scale issues like stroke, arrhythmias, and atherosclerosis, which a ff ect millions of people. “The fact that Marfan is a relatively rare condition doesn't matter to that 18-year-old, 30-year-old, or 50-year-old who is a ff ected in a life-threatening man- ner,” Dr. Weinsaft stated. “Funding to support rare disease research for what is a significant and potentially clinically serious complication like dissection is critical in order to work towards a cure." According to Dr. Weinsaft, funding from organizations like The Marfan Foundation supports academic and intellectual curiosity that allows researchers to ask questions that they may not be able to in a large-scale manner that would be appropriate for federal funding or otherwise. Foundation-Funded Aortic Research Leads to Significant Findings Much of Dr. Weinsaft’s laboratory research focuses on using new imaging techniques to understand pathophysiology better, inform treatment, and ultimately improve outcomes for cardiovascular and aortic disease patients. In 2018, he was awarded a grant by The Marfan Foundation to study people with Marfan syndrome or other causes of aortic enlargement undergoing surgical graft replacement of the ascending thoracic aorta. The goal was to discover whether MRI (magnetic resonance imaging) predicted changes in the aorta before and after surgery, and if native aortic tissue properties and graft design synergistically contribute to changes in the downstream native aorta after proximal graft surgery. Through this study, Dr. Weinsaft and his multidisciplinary team collaboration with Drs. Leonard Girardi, Mary Roman, Richard Devereux, and Mario Gaudino at Weill Cornell, as well as international collaborators including Dr. Alberto Redaelli at Polytechnico (Milan, Italy), used new cardiac MRI and computational modeling methods to better understand the impact of proximal aortic graft surgery on the

p Dr. Jonathan Weinsaft (seated, with lab coat) with members of his research team.

downstream (native) aorta. “In the case of our lab, the Foundation funding was critical for us to build a research infrastructure to bring in patients with Marfan syndrome who were undergoing aortic graft surgery, so that we could do state-of-the- art emerging imaging methods using cardiac MRI,” said Dr. Weinsaft. “In addition, the funding allowed us to build a team of international leaders.” The grant allowed the researchers to generate important preliminary data on the e ff ects of aortic grafts on downstream native aortic physiology. The team has presented the results at leading cardiac surgery, cardiology, and imaging conferences and published three papers (another in preparation) related to the data. They continue to expand their scope of work on the initial study. “We wouldn't have been able to make this impact without the Foundation’s support of our work,” said Dr. Weinsaft. “It allowed us to take on the pilot study, generate the preliminary data and build upon it, and, ultimately, put together an international consortium that could then build the groundwork for larger scale research towards the goal of improved long-term clinical outcomes for people with Marfan syndrome undergoing proximal aortic graft replacement surgery.” To support research and education on Marfan and related conditions, please go to Marfan.org/impact.

Want to get involved in research? Several studies are seeking participants. Visit Marfan.org/research for details.

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Winter 2022