Funded Research Grants

The following awards have been made possible through contributions from the Loeys-Dietz syndrome community. Donations for research play a vital role in discovering a cure for connective tissue disorders, including Loeys-Dietz syndrome. To contribute to research, click here.

Alternatively, explore opportunities to participate in research studies.

  • Principal Investigator: Leda Restrepo, PhD

    Institution: Johns Hopkins University

    Topic: Epigenetic determinants and mechanistic insights into the role of the long non-coding RNA Meg3 in the pathogenesis of aortic aneurysm,

    Abstract: A recurring issue for individuals affected by Loeys-Dietz syndrome is a progressive dilatation of the aorta, leading to aortic aneurysm. An increasing number of studies have suggested associations between non-coding RNA and a predisposition to develop aneurysms. To examine the molecular mechanisms of how specific long non-coding RNA regulates aneurysm pathogenesis in Loeys-Dietz syndrome, Dr. Restrepo’s team will perform in vitro and in vivo experiments with mice that repeat the clinical signs that individuals with LDS have, and they will test if this long non-coding RNA can modulate the progression of the aneurysm. This work could lead to the identification of a therapeutic agent for aortic aneurysm.

    Grant: $100,000 2-Year Victor McKusick Fellowship from The Marfan Foundation

  • Principal Investigator: Bart Loeys, MD, PhD

    Institution: University of Antwerp

    Topic: Exploration of a novel biomarker for thoracic aortic aneurysm and dissections

    Abstract: In this study Dr. Loeys’ team will investigate if serum levels of biomarkers in the mouse models of LDS and Marfan syndrome correspond to their thoracic aortic aneurysm severity and progression. They will gather evidence in serum samples of patients with thoracic aortic aneurysm and dissection to validate this biomarker also for thoracic aortic aneurysm and dissection in humans. Finally, in a stem cell derived model they will identify the cellular source of this biomarker in LDS and Marfan syndrome patients.

    If successful, the latter model can be used in future projects to test therapeutic compounds with the “simple” measurement of biomarker titers as the outcome parameter: compounds that decrease the biomarkers would be beneficial for the treatment of aortic aneurysm.

    Completion of this study holds the potential to help inform future research that will further explore whether this serum biomarker can detect asymptomatic thoracic aortic aneurysm, monitor disease progression, and predict aortic dissection. For more information, click here.

    Grant: $100,000 2-Year Innovators Award by The Marfan Foundation

  • Principal Investigator: Pamela Frischmeyer-Guerrerio MD, PHD

    Institution: 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.

    Amount: $100,000

  • Principal Investigator: Dr. Elena MacFarlane

    Institution: 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.

    Amount: $100,000

  • Principal Investigator: Dr. Bart Loeys

    Institution: University of Antwerp

    Topic: Creation of Loeys-Dietz syndrome Mutation Database

    Amount: $25,000

  • Principal Investigators: Dr. Hal Dietz, Juan Calderon

    Institution: 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

    Amount: $20,000

  • Principal Investigators: Dr. Hal Dietz, Pam Frischmeyer-Guerrerio, Anthony Guerrerio

    Institution: 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

    Amount: $20,000