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My laboratory focuses on skeletal development, leveraging insights from developmental biology to better understand skeletal diseases and identify potential new treatments.
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Early in my career, I cloned the human PTH/PTHrP receptor and its gene, uncovering that gain-of-function mutations in this receptor are responsible for Jansen Metaphyseal Chondrodysplasia—a severe form of short-limbed dwarfism associated with hypercalcemia. Using mouse models carrying these mutations, I contributed to defining the PTH/PTHrP receptor's critical role in skeletal biology.
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Subsequently, I pioneered the concept that oxygen gradients regulate tissue morphogenesis during skeletal development. Beyond serving as a key metabolic substrate in enzymatic reactions such as mitochondrial respiration, oxygen also functions as a regulatory signal. My laboratory investigates how hypoxia and hypoxia-driven pathways influence skeletal development, aiming to uncover novel mechanisms of cellular adaptation to low oxygen levels and identify therapeutic targets for cartilage and bone diseases.
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To achieve these goals, we employ genetically modified mouse models and a wide array of in vivo, ex vivo, and in vitro approaches to analyze phenotypes and elucidate the underlying biology.
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Selected Publications
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Höppner J, Firat D, Parvez-Khan M, Reyes M, Hanna P, Yadav PS, Dean T, Ramos-Torres KM, Brugarolas P, Collins MT, Wein MN, Liu S, Gellman SH, Schipani E, Kronenberg HM, Gardella TJ, Jüppner H.: A mouse model of Jansen's metaphyseal chondrodysplasia for investigating disease mechanisms and candidate therapeutics. Proc Natl Acad Sci U S A 122: e2500176122, Jun 2025.
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Lanzolla G, Sabini E, Beigel K, Khan MP, Sherry Liu X, Wang D, Laslow B, Taylor D, Bellido T, Giaccia A, Schipani E.: Pharmacological inhibition of HIF2 protects against bone loss in an experimental model of estrogen deficiency. Proc Natl Acad Sci U S A 121: e2416004121, Dec 2024.
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Khan MP, Sabini E, Beigel K, Lanzolla G, Laslow B, Wang D, Merceron C, Giaccia A, Long F, Taylor D, Schipani E.: HIF1 activation safeguards cortical bone formation against impaired oxidative phosphorylation. JCI Insight 9: e182330, Aug 2024.
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Sabini E, Schipani E.: The hypoxia signature across skeletal progenitor cells. J Bone Miner Res 39: 373-374, May 2024.
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Lanzolla G, Merceron C, Khan MP, Sabini E, Giaccia A, Schipani E.: Osteoblastic erythropoietin is not required for bone mass accrual. JBMR Plus 8: ziae052, Apr 2024.
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Schipani E, Carmeliet G.: Cell metabolism and bone cells. Bone Rep 19: 101719, Sep 2023.
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Reyes M, Firat D, Hanna P, Khan M, Bruce M, Shvedova M, Kobayashi T, Schipani E, Gardella TJ, Jüppner H.: Substantially Delayed Maturation of Growth Plate Chondrocytes in "Humanized" PTH1R Mice with the H223R Mutation of Jansen's Disease. JBMR Plus 7: e10802, Aug 2023.
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Warren A, Porter RM, Reyes-Castro O, Ali MM, Marques-Carvalho A, Kim HN, Gatrell LB, Schipani E, Nookaew I, O'Brien CA, Morello R, Almeida M.: The NAD salvage pathway in mesenchymal cells is indispensable for skeletal development in mice. Nat Commun 14: 3616, Jun 2023.
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Sabini E, Arboit L, Khan MP, Lanzolla G, Schipani E.: Oxidative phosphorylation in bone cells. Bone Rep 18: 101688, May 2023.
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Oranger A, Zerlotin R, Buccoliero C, Sanesi L, Storlino G, Schipani E, Kozloff KM, Mori G, Colaianni G, Colucci S, Grano M.: Irisin Modulates Inflammatory, Angiogenic, and Osteogenic Factors during Fracture Healing. Int J Mol Sci 24: 1809, Jan 2023.
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Last updated: 08/20/2025
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The Trustees of the University of Pennsylvania
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