Connective Issues Fall 2025

 Louis Saddic, MD, PhD – UCLA Estrogen mitigates thoracic aneurysm development through a shift in macrophage identity $100,000 2-Year Career Development Award Research has shown that women tend to have less extreme forms of Marfan syndrome than men, a di ff erence thought to be linked to estrogen’s protective e ff ects. Estrogen may reduce vessel damage by blocking inflammation that weakens and enlarges vessel walls. Dr. Saddic’s team will study how estrogen influences macrophages, immune cells that can either drive or resolve inflammation, using a Marfan mouse model. They will test whether estrogen increases protective macrophages and whether adding these cells directly produces similar benefits. The team will also examine how macrophages signal to muscle cells in vessel walls, with the goal of strengthening these walls and lowering the risk of enlargement and tearing.

“As a scientist who studies Marfan syndrome from PhD to postdoctoral training, I am deeply humbled and honored to receive the prestigious Victor McKusick postdoctoral fellowship from the Marfan Foundation. The dedicated work of many brilliant scientists and the generous support from the patient community have drastically advanced our understanding of Marfan syndrome progress over the last few decades. Building on their contribution, my recent finding uncovered a novel metabolic contribution to Marfan aneurysm progression. With the support of the Victor McKusick fellowship, this finding could shed new light on novel and feasible therapeutic intervention in the future, as metabolic pathways can often be targeted with small molecules.” ~Dr. Rong-Mo Zhang

 Rong-Mo Zhang, PhD – Yale University Fibrillin-1-induced glucose metabolism maintains smooth muscle contractility and aortic homeostasis $100,000 2-Year Victor McKusick Fellowship

The goal of this study is to determine if the presence of a molecule that limits cells’ ability to consume sugar is the reason why the artery wall in people with Marfan syndrome doesn’t contract as easily as it should, leading to aneurysm development. Researchers will study if reducing the level of that molecule and allowing cells to consume more sugar and contract more strongly stabilizes the aorta. If successful, this work may inform future drug development.

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Help fund the next potential breakthrough! Give now to our Research & Education Campaign. To learn more about our Research Grant Program, including funded grants, visit Marfan.org/research .

Events Upcoming October 26 .........St. Louis Walk for Victory November 2 .......Team Victory: NYC Marathon November 11 .......UnCorked NYC November 14 ......Houston HeartWorks December 2 ......Giving Tuesday January21 ...........Webinar: Hearing Issues in Stickler Syndrome January24 ..........Fifth Annual Virtual Spanish-Language Summit January26 ..........Deadline for McKusick Fellowship Applications Ongoing Support Groups –weo ff er a variety of monthly support groups. There is no obligation – just pick the one right for your and join us to try it out at Marfan.org/virtual-support-groups .

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Marfan.org