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Ann Moon
Professor, Department of Molecular and Functional Genomics, Weis Center for Research, Geisinger Clinic
Professor, Geisinger Commonwealth School of Medicine
Professor, Departments of Pediatrics and Human Genetics (adjunct), University of Utah

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

Anne Moon, MD, PhD

Research Interests

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.

Recent Publications

  • 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. Full Text
  • 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. Full Text
  • 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. Full Text
  • 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. Full Text
  • 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. Full Text


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