Connective Issues Winter 2023

Foundation Announces Largest Research GRANT Total research currently funded by the Foundation is $1.285 million The Marfan Foundation has awarded $620,000 in new grants to physicians/scientists as part of its Research Grant program bringing the total current funding to $1,285,500. The new grants include a one-year Everest award and four, two-year grants including one Career Development Award, and three Innovators Awards. “Research funding from the Foundation has provided critical seed money to established scientists and has successfully enhanced the pipeline of researchers who are interested in genetic aortic and vascular conditions,” said Craig T Basson, MD, PhD, chair of the Foundation’s Scientific Advisory Board. “We are now at a crucial juncture where we can more strategically focus on transformational science and aim for cures for these conditions. The Everest Award was designed to promote longer, multi-disciplinary, collaborative grants that will help us reach these goals.” This is the largest grant mechanism initiated by the Foundation. It can provide up to four years of funding for a total of $880,000 if yearly milestone goals are met based on evaluation by the Scientific Advisory Board. First Everest Award Recipient The Foundation presented the first Everest Award to Joseph W. Turek, MD, PhD, MBA, an academic pediatric cardiac surgeon at Duke University. Since 2017, Dr. Turek has served as chief of pediatric cardiac surgery and Other New Grant Recipients ★ CAREER DEVELOPMENT AWARD - $100,000 Marie Billaud, PhD, Brigham and Women’s Hospital Mitochondria – ECM crosstalk in aortic SMCs of Marfan Patients ★ INNOVATORS AWARD - $100,000 Enid Neptune, MD, Johns Hopkins University Defining Alveolar Epithelial Phenotype in Marfan Lung Disease ★ INNOVATORS AWARD - $100,000 Delphine Gomez, PhD, University of Pittsburgh Alteration of H34Kme2 in Marfan syndrome: A driver of aortic dilation ★ INNOVATORS AWARD - $100,000 Bart Loeys, MD, PhD, University of Antwerp Exploration of a novel biomarker for thoracic aortic aneurysm and dissections (See page 12 for details) To view all past grant recipients, visit Marfan.org/research/funded-grants.

p Joseph W. Turek, MD, PhD, MBA

executive co-director of Duke Children’s Pediatric & Congenital Heart Center. The Foundation awarded his project, TRPC4/ATR1 Dual Antagonism Blocks Marfan Aortopathy, $220,000 for one year. Current medical therapies slow the rate of aortic growth in people with Marfan syndrome, but they do not eliminate the need for surgery. In preliminary work, Dr. Turek and his team demonstrated that a novel pathway is involved in aneurysm formation in people with Marfan. In animal studies, when a critical protein in this pathway is blocked with medication, these aneurysms do not form. Moreover, this critical protein is found in abundance in the aorta of people with Marfan who require surgery, underscoring its relevance to aneurysm formation. The Marfan Foundation Everest Award will allow Dr. Turek and his team to more specifically characterize this pathway, discover drugs that can e ff ectively block the critical protein preventing aneurysms, and identify biomarkers found in the blood that can evaluate the e ff ectiveness of the drug. Ultimately, Dr. Turek hopes this results in better medical treatment for this devastating

complication of Marfan and that people with Marfan can one day avoid surgery altogether. To support research and progress on Marfan, LDS, and VEDS, please scan the QR code or visit Marfan.org/ donate.

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Winter 2023