Research Summary
Dr. Dietz and his laboratory team are interested in the development and homeostasis of the arterial wall, and other diseases of the connective tissue.
One goal is to understand genetic factors that predispose to aortic aneurysm, a condition accounting for 1-2 percent of deaths in industrialized countries. Their initial approach has been to study Marfan syndrome (MFS), a genetic disease that includes aortic aneurysm as part of the condition and that is caused by mutations in a single gene. It is anticipated that a comprehensive understanding of the cause, progression, and modulation of MFS will promote a greater understanding of vascular wall biology.
Other vascular disorders currently being studied include vascular Ehlers-Danlos Syndrome, and an aggressive aneurysm phenotype called Loeys-Dietz syndrome. We have shown that the multisystem pathogenesis of each of these disorders relates to crosstalk between the transforming growth factor b (TGFb), angiotensin II (AngII) and mitogen-activated protein kinase pathways. These pathways can be targeted carefully in mouse models to provide a strong scientific basis for therapeutic intervention in humans with these diseases.
A second major interest of the laboratory is to understand the mechanism of nonsense-mediated mRNA decay; to evaluate its basic biologic purpose; and to assess its role as a potent modulator of disease severity in a wide variety of genetic disorders.
Lab
Lab Website: Dietz Lab
Selected Publications
View all on PubMed
The Extracellular Matrix in Homeostatic, Autoimmune and Fibrotic Disease. Northwestern Lectures in Life Sciences, Northwestern University, Chicago, IL, January 2015.
Found in Translation: New Insights into the Pathogenesis and Treatment of Marfan Syndrome and Related Disorders. Laennec Clinician/Educator Lecture, American Heart Association Scientific Sessions, Chicago, IL, November 2014.
Found in Translation: New Insights into the Pathogenesis and Treatment of Marfan Syndrome and Related Disorders. Stevenson Lecture, University of Western Ontario, London, Ontario, November 2014.
Found in Translation: New Insights into the Pathogenesis and Treatment of Marfan Syndrome and Related Disorders. Centro de Biología Molecular “Severo Ochoa” Consejo Superior de Investigaciones Científicas Madrid, Spain, October 2014.
Conditional Provocations in a Knock-In-Mouse Model of Marfan Syndrome” (Basic Science Session), New Therapeutic Opportunities in MFS and LDS as Revealed by Modifier Studies in Patients and Mouse Models.” (Mechanisms and Options for Therapeutic Interventions Session), 9th International Research Symposium on Marfan Syndrome and Related Disorders, The Marfan Foundation, Paris (France), September 2014.
Marfan & Loeys-Dietz. 5th Annual New England Symposium on Marfan Sydrome & Related Disorders. Ambrey Genetics, Marfan Foundation, MA Chapter and the NH/VT Network of the Marfan Foundation, Manchester, NH, September 2014.
Found in Translation: New Insights into the Pathogenesis and Treatment of Marfan Syndrome and Related Disorders. American Heart Association, BCVS Meeting (Basic Cardiovascular Sciences), Las Vegas, NV, July, 2014
Found in Translation: New Insights into the Pathogenesis and Treatment of Marfan Syndrome and Related Disorders. Charles R. Ross Memorial, Student Research Celebration, Upstate Medical University, Syracuse, NY, April 2014.
The Extracellular Matrix in Homeostatic, Autoimmune and Fibrotic Disease Process. Christian J. 2014 Lambertsen Honorary Lecture, University of Pennsylvania, Perelman School of Medicine, Philadelphia, PA, April 2014.
The Extracellular Matrix in Homeostatic, Autoimmune and Fibrotic Disease Processes. Robert Berliner Professorship, Yale University, New Haven, CT, April 2014.
New Insights Regarding the Pathogenesis and Modification of Marfan Syndrome and Related Disorders. 78th Annual Scientific Meeting of the Japanese Circulation Society, Tokyo, Japan, March 2014.
