Grants & Giving




Dr. Hal Dietz, Pam Frischmeyer-Guerrerio, Anthony  Guerrerio

Johns Hopkins University

Topic: Allergy and Immunity research in Loeys-Dietz syndrome

Publication: TGFβ receptor mutations impose a strong predisposition for human allergic disease. Frischmeyer-Guerrerio PA, Guerrerio AL, Oswald G, Chichester K, Myers L, Halushka MK, Oliva-Hemker M, Wood RA, Dietz HC. Sci Transl Med. 2013 Jul 24;5(195):195ra94. doi: 10.1126/scitranslmed.3006448



Dr. Hal Dietz, Juan Calderon

Johns Hopkins University       

Topic: Genetic Modifiers of Cardiovascular Phenotypes in Mouse Models of Connective Tissue Disorders

Publication: TBD;  2013 ASHG abstract

Other: ASHG/Charles J. Epstein Trainee Award for Excellence in Human Genetics Research.  Winner, 63rd Annual Meeting of The American Society of Human Genetics, Boston MA, 2013



Dr. Bart Loeys

University of Antwerp

Topic: Creation of Loeys-Dietz syndrome Mutation Database



Dr. Elena MacFarlane

Johns Hopkins University

Topic: to Investigate the genetic, epigenetic and biochemical mechanisms that account for lineage-specific susceptibility to signaling perturbations, with particular focus on how lineage-of-origin influences the effects of TGF-β signaling perturbations on vascular development and homeostasis.

Publication: ASHG 2015 abstract ,Lineage-specific events underlie aortic root aneurysm pathogenesis in Loeys-Dietz syndrome. MacFarlane EG, Parker SJ, Shin JY, Kang BE, Ziegler SG, Creamer TJ, Bagirzadeh R, Bedja D, Chen Y, Calderon JF, Weissler K, Frischmeyer-Guerrerio PA, Lindsay ME, Habashi JP, Dietz HC. J Clin Invest. 2019 Feb 1;129(2):659-675. doi: 10.1172/JCI123547. Epub 2019 Jan 7.



Pamela Frischmeyer- Guerrerio MD, PhD

National Institute of Allergy and Infectious Disease 

Topic:  Patients with Loeys-Dietz syndrome (LDS) are more likely to develop nearly all forms of allergic disease, including food allergy, asthma, eczema and eosinophilic esophagitis (EOE), a condition characterized by increased numbers of eosinophils in the esophagus that can lead to difficulty swallowing, abdominal pain/vomiting and poor growth. The goal of the proposed research project is to understand how the alterations in TGF-B signaling that occur in patients with Loeys-Dietz syndrome (LDS), lead to forms of allergic disease, and how we can use this information to develop better treatments.