My group has a 30 year commitment to the care and study of patients with heritable vascular connective tissue disorders that predispose to vascular dissection and/or rupture. These disorders include Marfan syndrome (MFS; mutations in FBN1), Loeys-Dietz syndrome (LDS; mutations in TGFBR1, TGFBR2, SMAD3, SMAD2, TGFB2, TGFB3), vascular Ehlers-Danlos syndrome (vEDS; mutations in COL3A1) and Sphrintzen-Goldberg syndrome (SGS; mutations in SKI). 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. I lead a multidisciplinary clinic focused on the diagnosis and chronic management of heritable connective tissue disorders, with an age range spanning from birth to late old age and nearly 1,000 patient visits per year. My research integrates clinical care, disease gene identification, mechanistic studies in animal models, natural history studies and treatment trials. I have had the honor of mentoring over 50 graduate students and emerging physician scientists and have trained over a dozen clinicians in a wide variety of disciplines who have dedicated their careers to people with vascular connective tissue disorders.

Debbie has been doing the seemingly impossible task of scheduling everything the Dietz Lab needs smoothly and seamlessly for 12 years. She has a keen talent for cutting through the noise, and remains the most organized member of the lab. Debbie is undoubtedly one of the pillars of the Dietz lab, and the most capable person you'll find to judge any pie day contest. 

Sara Cooke has been working to manage the Dietz lab for over 15 years. Beyond providing essential knowledge of the inner workings of critical lab processes, she has been an endless source of moral and personal support to the many people who have come through the lab. At tea time, she likes talking about her 7 lb dog Rufio, lifting people's spirits with the latest roundboys video, and doing it all while sipping Diet Coke.

Jefferson Doyle, M.D., Ph.D., M.H.S. specializes in genetic eye disorders. He is a pediatric ophthalmologist whose clinical focus includes the ocular manifestations of connective tissue disorders, pediatric cataracts and ectopia lentis, pediatric glaucoma and anterior segment dysgenesis, and pediatric retinal dystrophies. His main research focus is elucidating the molecular mechanisms driving disease progression in Marfan syndrome and other causes of genetically-induced high myopia, with the goal of developing novel treatment approaches to translate into human trials. He also has an interest in modifier gene identification and leveraging this information for therapeutic benefit. He is a faculty member in the Wilmer Eye Institute, the Department of Genetic Medicine (DGM) and the Cellular and Molecular Medicine (CMM) graduate training program at Johns Hopkins, and greatly enjoys teaching in both clinical and research realms. Interests outside work include flying, sailing and the Baltimore symphony.

Shira G. Ziegler, M.D., Ph.D. is currently the Johns Hopkins Genetics chief resident. She graduated from the Johns Hopkins University School of Medicine MD-PhD program in 2018. Her graduate research in Hal Dietz's laboratory elucidated the mechanisms underlying rare disorders of ectopic and vascular calcification and identified new treatment strategies. She then pursued dual residency training in pediatrics and medical genetics. Shira is now back in the Dietz laboratory and continues to investigate rare calcific disorders. She plans to combine her bench-to-bedside research on rare genetic conditions with clinical care. She enjoys mentoring trainees and teaching medical students and residents. When not busy in clinic or the laboratory, she loves hiking and sailing, and cheering for the Ravens and the Orioles.

Nicole completed her PhD in the Dietz Lab in 2018. She loved it so much that she just couldn't leave and is still hanging around two years later. She loves running, cooking, the ocean, and hanging out with her big dog and two awesome daughters.

Emily Juzwiak is a 4th year Cellular and Molecular Medicine PhD candidate in the Dietz lab. Her work focuses on understanding sexual dimorphism and the role of androgens in vascular Ehlers-Danlos syndrome. Prior to graduate school, Emily received a BS in Genetics and Molecular Genomics from Michigan State University. During tea time, she likes talking about funny pet stories, weekend plans, and restaurant recommendations.

Cassie is an MD/PhD student in the Cellular and Molecular Medicine program, who is in her third year with the Dietz Lab studying genetic contributions to spinal CSF leaks and spontaneous intracranial hypotension. Cassie is originally from the Chicago suburbs and attended Washington University in St. Louis before doing a 2-year post-baccalaureate fellowship at the NIH. At tea time she likes to stretch because she's sore from weightlifting and show everyone pictures of her husky.

Gretchen MacCarrick is a board-certified genetic counselor in the Department of Genetic Medicine at the Johns Hopkins University. She has worked in the Cardiovascular Connective Tissue Clinic since 2001, with activities surrounding both patient care and clinical research initiatives. She is co-founder of the Loeys-Dietz Syndrome Foundation and passionate about resource access, education and advocacy for patients impacted by vascular conditions.  

Catherine Kashmer has been within the Johns Hopkins system for the past 13 years, initially as a cardiac sonographer. She graduated from Towson University's Physician Assistant program in 2018 with a Master of Science, and soon after stepped into her current role in the Connective Tissue Disorders clinic.