The Marfan Foundation has granted its second Everest Award to a team of researchers led by Julie De Backer, MD, PhD, a cardiologist and clinical geneticist at Ghent University in Belgium who actively provides care to individuals with Marfan syndrome and supervises clinical research of the condition. If successful, Dr. De Backer’s project may lead to the development of new treatment options for the prevention of aortic dissection in people with Marfan syndrome, potentially reducing the need for surgical repair.
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. The Foundation’s generous supporters help make research funding possible.
“For years, we have understood that inflammatory processes play a crucial role in aortic disease in Marfan syndrome, yet the complex roles of specific immune cells remain a mystery,” said Dr. De Backer. “Through this esteemed Everest Award, our collaborative global research will leverage cutting-edge techniques to unravel these intricate processes. This project not only promises to explore options to implement immunotherapy for Marfan syndrome but also exemplifies the pivotal role of The Marfan Foundation’s support in paving the way for these innovations. Together, we are very eager to explore new pathways to treatment that could transform the lives of people affected by Marfan syndrome and related (heritable) thoracic aortic diseases.”
Dr. De Backer’s Everest project will further investigate the specific immune cells associated with tissue damage in the wall of the aorta of mouse models with defects in 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.
“Dr. De Backer and her team present an exciting investigative opportunity for patients with Marfan syndrome,” said Craig T. Basson, MD, PhD, Chair, Scientific Advisory Board, The Marfan Foundation. “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.”
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. Different 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 effort 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).
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The Everest Award is the Foundation’s largest grant designed to “reach the summit” on a critical path to a breakthrough in basic or translational science that has direct relevance to human health. To learn more about the Foundation’s research impact including how to get involved, view previously funded grants, and offer support, visit marfan.org/research.
The Marfan Foundation is a nonprofit organization that saves lives and improves the quality of life of individuals with genetic aortic and vascular conditions including Marfan, Loeys-Dietz, and Vascular Ehlers-Danlos syndromes. Our vision is a world in which everyone with genetic aortic and vascular conditions can live their best life.