Grants & Giving

 

2009

$20,000

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


2012

$20,000

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


2013

$25,000

Dr. Bart Loeys

University of Antwerp

Topic: Creation of Loeys-Dietz syndrome Mutation Database


2017

$100,000

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.


2018

$100,000

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.