Physician Investigator (Cl) Endocrine Division, Mass General Research Institute

Associate Professor of Medicine Harvard Medical School

Associate Physician Medicine-Endocrinology, Massachusetts General Hospital

Affiliate Faculty Harvard Stem Cell Institute

MD Friedrich Schiller University 1991

diphtheria toxin; fanconi syndrome; fasciola hepatica; fibroblast growth factors; genes, dominant; glucose transporter type 2; gtp-binding protein alpha subunits; hajdu-cheney syndrome; hormone replacement therapy; hyperparathyroidism, primary; hypoparathyroidism; hypophosphatemia, familial; osteogenesis imperfecta; osteomalacia; parathyroid glands; parathyroid hormone; parathyroid neoplasms; parathyroidectomy; phosphates; receptors, parathyroid hormone

Parathyroid glands produce parathyroid hormone (PTH), which is necessary for calcium regulation and bone health. In families with insufficient parathyroid gland activity (hypoparathyroidism), we have identified mutations in genes that are important for the development and function of parathyroid glands.

The characterization of these mutations will help improve our understanding of parathyroid-gland biology.

Dr. Mannstadt is also principal investigator for clinical trials involving the use of PTH in hypoparathyroidism.