Harald Jüppner, M.D.
Professor of Pediatrics
Massachusetts General Hospital and Harvard Medical School
Dr. Jüppner went to the Medical School Hannover, Germany. Subsequently, he trained in pediatrics at the same institution before joining the Endocrine Unit at the Massachusetts General Hospital, Boston, MA, USA, where he focused his research on the regulation of mineral ion homeostasis and bone metabolism. His primary interest has been the molecular cloning and characterization of PTH/PTHrP receptor and understanding its role in bone, kidney, and cartilage biology. He furthermore developed assays for measurement of parathyroid hormone (PTH) and fibroblast growth factor 23 (FGF23), and their utility for the assessment of patients with phosphate-wasting disorders and chronic kidney disease. In recent years, molecular genetic studies have been the main focus of his research. His laboratory identified the molecular defect of several inherited disorders, including pseudohypoparathyroidism type Ib, Jansen’s disease, infantile cortical hyperostosis, hypoparathyroidism, and several hypophosphatemic disorders. To explore the molecular basis of these and other inherited human disorders, he has collaborated with a large numbers of investigator and clinicians.
