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Division Head, Pediatric Endocrinology & Diabetes Director, Center for Rare Bone Disorders Director, Albright Center; Director, Osteogenesis Imperfecta Center
Education: AB, Harvard University, 1981 MD, Johns Hopkins University School of Medicine, 1986 Residency: Pediatrics, Johns Hopkins Hospital, 1986-1989 Fellowship: Pediatric Endocrinology, Johns Hopkins University School of Medicine, 1989-1992
Professor of Pediatrics, University of Connecticut School of Medicine Adjunct Professor, Johns Hopkins University School of Medicine/Kennedy Krieger Institute
Dr. Germain-Lee has a distinguished history of caring for children and adults from around the world with all types of bone disorders, most notably Albright hereditary osteodystrophy (AHO), a condition including two subtypes termed pseudohypoparathyroidism type 1a and pseudopseudohypoparathyroidism.
Over the past two decades, she has built extensive clinical and research programs focused on AHO and currently follows the largest population of these patients worldwide. Her clinical and research interests also include other rare disorders leading to bone and/or endocrine abnormalities such as osteogenesis imperfecta, skeletal dysplasias, and Sturge-Weber Syndrome. Her goal is to develop new treatments to improve the overall health and quality of life for patients with these disorders and to translate scientific investigations in her laboratory into therapeutic applications.
Outside of Connecticut Children’s Medical Center and UConn Health, Dr. Germain-Lee serves as Vice President of the Human Growth Foundation to help children with growth disorders through advocacy, education, and research.
Germain-Lee EL, Ding CL, Deng Z, Crane JL, Saji M, Ringel MD, Levine MA. Paternal imprinting of Gαs in the human thyroid as the basis of TSH resistance in pseudohypoparathyroidism type 1a. Biochem Biophys Res Commun. 296:67-72, 2002. PMID 12147228
Germain-Lee EL, Groman J, Crane JL, Jan de Beur SM, Levine, MA. Growth hormone deficiency in pseudohypoparathyroidism type 1a: another manifestation of multihormone resistance. J Clin Endocrinol Metab. 88:4059-4069, 2003. Special Feature article (with accompanying editorial). PMID 12970262
Germain-Lee EL, Schwindinger W, Crane JL, Zewdu R, Huso DL, Zweifel L, Wand G, Motoyasu S, Ringel MD, Levine MA. A mouse model of Albright hereditary osteodystrophy generated by targeted disruption of exon 1 of the Gnas gene. Endocrinology. 146:4697-4709, 2005. PMID 16099856
Miller RS, Ball KL, Comi AM, Germain-Lee EL. Growth hormone deficiency in Sturge-Weber Syndrome. Arch Dis Child. 91:340-341, 2006. PMID 16551788
Germain-Lee EL. Short stature, obesity, and growth hormone deficiency in pseudohypoparathyroidism type 1a. Pediatr Endocrinol Rev. 3(2):318-327, 2006. PMID 16675931
View Dr. Germain-Lee’s full list of publications
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