Research Recruitment




Dr. Hal Dietz, Pam Guerrerio, and Anthony Guerrerio

Johns Hopkins University

Topic: Loeys Dietz GI and Allergy Study

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



Paul Sponseller and Eric Tan                    

Johns Hopkins University

Topic: Loeys Dietz syndrome Musculoskeletal Study                              

Publication: Increased fracture risk and low bone mineral density in patients with loeys-dietz syndrome. Tan EW, Offoha RU, Oswald GL, Skolasky RL, Dewan AK, Zhen G, Shapiro JR, Dietz HC, Cao X, Sponseller PD. Am J Med Genet A. 2013 Aug;161A(8):1910-4. doi: 10.1002/ajmg.a.36029. Epub 2013 Jul 4.           



Paul Sponseller and Thomas Kim 

Johns Hopkins University

Topic: Loeys-Dietz syndrome foot study



The Center of Genomics and Policy, University of McGill, Montreal

Topic: CARE for RARE focus groups on WES impact on rare diseases



Jennifer Habashi and Melissa Russo       

Johns Hopkins University

Topic: Pregnancy in Connective Tissue Disorders



Richard Spritz and Sheri Riccardi

University of Colorado

Topic: International Study of Genetic Syndromes that Include Facial Abnormalities (creation of 3D facial photograph database)



R.T. Collins and Y.A. Zarate

University of Arkansas

Topic: neurodevelopmental issues in Loeys-Dietz syndrome

Publication: Parental-reported neurodevelopmental issues in Loeys-Dietz syndrome. Collins RT 2ndFlor JM  Tang XBange JMZarate YARes Dev Disabil.2018 Dec;83:153-159. doi: 10.1016/j.ridd.2018.08.003. Epub 2018 Sep 10. 



Gretchen MacCarrick and Joann Bodurtha

Johns Hopkins University

Bullying in genetic syndromes



Helen O’Neill

Institute of Women’s Health, University of Warwick

Patient attitudes to genome editing for prevention of heritable disorders: Social and Ethical Implications.