Connective Issues Spring 2024

the fibrillin-1 gene. If there is a clearer understanding of the role these cells play, Dr. De Backer and her project team can gain insight into how tissue damage develops in the aorta of individuals with Marfan syndrome and test whether treatments aimed at these specific cells can help prevent further aortic damage and rupture. To improve the potential translation of these results to clinical practice, aortic samples from individuals with Marfan syndrome will be examined for evidence of the involvement of similar immune cells. In past studies using mouse models, Dr. De Backer and her collaborators have discovered that specific cells from the immune system can be found in the aortic wall of mice with Marfan syndrome, close to the regions of tissue damage. Di ff erent immune cell types were observed in mouse models with mild damage to the aorta when compared to those with severe damage to the aorta, suggesting that these immune cells are involved in the early stages of the development of tissue damage in the aorta before rupture occurs. This project relies on a strong, collaborative, interdisciplinary e ff ort between the research groups in Ghent, Belgium, led by Drs. De Backer and Patrick Sips, and Tsukuba, Japan, led by Dr. Hiromi Yanagisawa. The teams can also count on invaluable contributions from the groups of Dr. Lynn Sakai (Oregon Health & Science University), Dr. Bart Lambrecht (Ghent University), and Dr. Mitsuhiro Ebara (National Institute for Materials Science, Japan). THE FOUNDATION AWARDED DR. DE BACKER’S PROJECT, Contribution of immune cells to vascular wall damage and dissection in Marfan syndrome, $220,000 for one year, with the opportunity for additional years of funding based on annual milestone reviews by the Foundation’s scientific advisory board. Up to four years of funding for $880,000 is available for this study.

“Dr. De Backer and her team present an exciting investigative opportunity for patients with Marfan syndrome. While there is an increasing awareness that inflammation may underlie or exacerbate symptoms and risk in Marfan syndrome, little is known about the interplay of the immune system and Marfan mechanisms of disease. With the Everest Award, Dr. De Backer and colleagues will define foundational properties of immune cells in Marfan syndrome and set the stage for novel approaches to therapies.”

~Craig T. Basson, MD, PhD, Chair, Scientific Advisory Board, The Marfan Foundation

 Laboratory team of Hiromi Yanagisawa, MD, PhD (center) – Japan

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Spring 2024