Board of Medical Advisors

Harald Jüppner, MD

Massachusetts General Hospital, Harvard Medical School, Boston, MA

BACKGROUND: Dr. Jüppner¹s research focuses on the regulation of mineral ion homeostasis and bone metabolism. His primary interest has been the PTH/PTHrP receptor and understanding its role in bone, kidney and cartilage biology. He is, furthermore, interested in parathyroid hormone (PTH) and fibroblast growth factor 23 (FGF23), particularly their role in 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, infantile cortical hyperostosis, and some hypophosphatemic disorders. To explore the molecular basis of these and other inherited human disorders, he has collaborated with a large number of investigators and clinicians.

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