Connective Issues Fall 2023

“These promising research studies could lead to advancements in new diagnostics and treatment options for those living with Marfan, Loeys-Dietz, VEDS, and other genetic aortic conditions,” said Josephine Grima, PhD, chief science o ffi cer for the Foundation. “By investing in researchers, we invest in the lives of our community and their future.”

Thanks to the generosity of our supporters, the Foundation awarded five new research grants. These two-year grants include two Innovator Awards and three Victor McKusick Fellowship Awards. The research projects focus on aortic dissection and thoracic aortic aneurysms. About our grant recipients and their research: FOUNDATION ANNOUNCES $500,000 IN NEW RESEARCH GRANTS

 Bert Callewaert, MD, PhD – Ghent University An appraisal of the contribution of neural crest lineages in a zebrafish model for aortic dissection $100,000 2-Year Innovators Award Previous studies using human cells have indicated that dysregulation of neural crest cells (cells that arise early in embryonic development) contributes to thoracic aortic aneurysm in Marfan syndrome, Loeys-Dietz syndrome, and bicuspid aortic valve. Since several signaling molecules are important for neural crest cell development and have been implicated in the pathogenesis of these syndromic forms of aortic dilatation, Dr. Callewaert’s team will

investigate how dysregulation of these pathways alters neural crest cell behavior and contributes to aortic root widening in a living zebrafish model. If successful, this could help identify future therapeutic targets that could be valuable for the treatment of a ff ected individuals.

 Ketan Ghaghada, PhD – Baylor College of Medicine Prediction of aortic dissection and rupture in Marfan

syndrome using nano-radiomics $100,000 2-Year Innovators Award

Non-invasive diagnostic methods that enable early detection and prediction of aortic disease progression leading to dissection and rupture is an unmet need for individuals with Marfan syndrome. Using an established mouse model, Dr. Ghaghada and the study team will investigate a novel imaging method for prediction of aortic dissection and rupture in Marfan syndrome. This work is significant, because it focuses on the understanding and prevention of

life-threating cardiovascular disease. Early diagnosis and improved prognosis would aid in the development of new ande ff ective medications to prevent the progression of fatal aortic disease and save the lives of individuals with Marfan syndrome.

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