Connective Issues Winter 2018


PARTICIPATE IN RESEARCH Researchers need your help to advance scientific knowledge on Marfan syndrome and related disorders that could lead to better treatments. Although your family might not benefit from the results of the study, your participation will certainly help the greater community affected with the disorder, including future generations of your family. Evaluation of an Imaging Biomarker in Children and Young Adults with Aortopathy Researchers at Texas Children’s Hospital and Baylor College of Med- icine are measuring and observing an imaging biomarker over time which may help predict risk of dilation and changes in the aorta. You must be able to visit the Texas Children’s Hospital in Houston. Thoracic Aortic Aneurysm and Dissection Study Dianna Milewicz, MD, PhD, Director of the John Ritter Research Program in Aortic and Vascular Diseases at the University of Texas Health Science Center in Houston, is working with clinicians, scientists, and genetic counselors on a number of ongoing research studies to learn more about the genes that predispose people to thoracic aortic aneurysms and acute aortic dissections. Further identifi- cation of the genes that cause people to have these conditions will increase the ability to identify who is at risk and provide information on how to better diagnose and manage aortic and vascular diseases. More study information, along with enrollment criteria, is available at Among the studies currently seeking participants are:

2017 Research Grant Recipients

Victor A. McKusick Fellowship Grant James Foster, PhD Johns Hopkins School of Medicine $100,000 2-year grant Organ Specific Expression of the Short Isoform of ADAMTS2 and Its Role in Corneal Development Early Investigator Grants Gillian McLellan, BVMS, PhD, DACVO University of Wisconsin-Madison $75,000 2-year grant Delineating Pathology of the Aqueous Humor Outflow Pathways in Animals with LTBP2 Mutation Francesca Seta, PhD Boston University School of Medicine $75,000 2-year grant Preclinical Study to Test the Efficacy of Sirtuin-1 Against the Vascular Complica- tions of Marfan’s and Related Disorders Joseph Turek, MD University of Iowa $75,000 2-year grant A TRPC4-Dependent Amplification

Cardiovascular MRI Wall Stress Charac- terization for Prediction of Adverse Aortic Remodeling Following Surgical Aneurysm Repair Pascal Bernatchez, PhD University of British Columbia $100,000 2-year grant Endothelial Function in Marfan: A Target and Clinical Marker Juan Miguel Redondo-Moya, PhD Spanish National Cardiovascular Centre $100,000 2-year grant NO Signaling and ADAMTS1 Substrates in the Pathogenesis of Marfan Syndrome

Pathway Contributes to Aortic Aneurysm Progression in Marfan Syndrome

Clinical Research Grant James Hoekel, OD Washington University $100,000 2-year grant

“The Marfan Foundation award is instrumental in establishing our research program in a timely and competitive manner and will help us to increase our competitiveness in securing other sources of funding, such as the European Research Council-Advanced Grant.” – JUAN MIGUEL REDONDO-MOYA, PhD, SPANISH NATIONAL CARDIOVASCULAR CENTRE (MADRID), 2017 FACULTY GRANT RECIPIENT

Intraocular Lens Implant and Corneal Laser Surgery in Visually Impaired Children with Marfan Syndrome Faculty Grants Bettina Willie, PhD McGill University $100,000 2-year grant Osteocyte Mechanobiology in Marfan Syndrome

Jonathan Weinsaft, MD Weill-Cornell Medical College $100,000 2-year grant

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