Dr. Harald Jueppner
Massachusetts General Hospital & Harvard Medical School
Chief of Pediatric Nephrology at Massachusetts General Hospital and Professor of Pediatrics at Harvard Medical School.
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He has had a long-standing interest in the regulation of calcium and phosphate homeostasis as well as the mechanisms contributing to bone growth and turnover. He and his colleagues were the first to isolate cDNAs encoding the PTH/PTHrP receptor (PTHR1), which allowed the search for human disorders caused by mutations in this gene.
Instead, Dr. Jueppner's group identified several different, activating mutations in Jansen's metaphyseal chondrodysplasia (JMC), which is characterized by severe and crippling bone deformities, short-limbed dwarfism, and hypercalcemia.
Together with Dr. Gardella, Dr. Jueppner now explores in vitro and in vivo the role of inverse agonists at the PTHR1 for the treatment of growth plate and bone abnormalities observed in the currently available transgenic mouse JMC models.