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Anne Moon, MD, PhD

Associate of Pediatrics

Senior Scientist, Weis Center for Research
Adjunct Professor, Department of Pediatrics, University of Utah
Adjunct Professor, Department of Pediatrics, Mt. Sinai School of Medicine


Weis Center for Research
100 North Academy Avenue
Danville, PA 17822
Phone: 570-214-6984
Fax: 570-271-6701


MD, Washington University School of Medicine in St. Louis, 1986-1992
PhD, Washington University School of Medicine in St. Louis, 1986-1992


Cardiovascular Sciences, Cell Signaling, Cellular Regulation, Genetics, Protein-Protein Interaction


Molecular genetics, developmental biology, cardiovascular development and disease, mouse models of human disease, Pediatric intensive care


Research in my laboratory is devoted to understanding the mechanisms of normal and pathologic cardiac, limb and lung development with a focus on the role of Fibroblast Growth Factors, particularly FGF8, and Tbx transcription factors in these processes. We have generated novel mouse models of several human birth defect syndromes, including human 22q11 deletion syndromes such as DiGeorge syndrome, Ulnar-mammary syndrome and congenital arrhythmia syndromes. Our studies are providing new insight into the cellular events and molecular programs that are disrupted in these syndromes. This is allowing us to identify new candidate genes for human malformations that are being tested by our collaborators in Human Genetics.  We are dissecting the molecular events that occur in response to FGF signaling in vivo, and also developing the tools necessary to study how a cell integrates complex converging inputs from multiple intercellular signaling pathways in order to generate the developmentally "correct" response in the context of a specific morphogenetic event. We are discovering new functions of the Tbx3 protein in cardiac conduction system and structural development in mice, and how mutations in human TBX3 result in the complex features of Ulnar-mammary syndrome.

Figure 1


Moon AM, Stauffer AM, Schwindinger WF, Sheridan K, Firment A, Robishaw JD. (2014, Mar). Disruption of G- Protein y5 Subtype Causes Embryonic Lethality in Mice . PLoS One , 9(3):e90970 .   

Kumar PP, Franklin S, Emechebe U, Hu H, Moore B, Lehman C, Yandell M, Moon AM . (2014, March). TBX3 Regulates Splicing In Vivo: A Novel Molecular Mechanism for Ulnar-Mammary Syndrome. PLoS Genetics , 10(3):e1004247.   

Kumar PP, Emechebe U, Smith R, Franklin S, Moore B, Yandell M, Lessnick SL, Moon AM . (2014, May). Coordinated control of senescence by lncRNA and a novel T-box3 co-repressor complex. eLife , Epub ahead of print.   

Frank DU, Emechebe U, Thomas KR, Moon AM . (2013, July). Mouse Tbx3 Mutants Suggest Novel Molecular Mechanisms for Ulnar-Mammary Syndrome. PLoS One , 8(7): e67841.   

Frank DU, Carter K, Thomas KR,Burr RM, Bakker M, Cotzee W, Tristani-Firouzi M, Bamshad MJ, Christoffels VM, Moon AM . (2012, Jan). Lethal arrhythmias in Tbx3-deficient mice reveal extreme dosage-sensitivity of cardiac conduction system function and homeostasis. Proc Natl Acad Sci USA , 109(3):E154-63.   

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