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Emily L. Germain-Lee, M.D.
Kennedy Krieger Institute
707 N. Broadway
Baltimore, MD 21205
Phone: (443) 923-2703
Dr. Emily Germain-Lee is the director of bone research and the associate director of the Osteogenesis Imperfecta Clinic at Kennedy Krieger Institute. She established the Albright Clinic at Kennedy Krieger for patients with Albright hereditary osteodystrophy and related conditions. Dr. Germain-Lee is an associate professor of pediatrics in the Division of Pediatric Endocrinology at the Johns Hopkins University School of Medicine.
Dr. Germain-Lee received her bachelor’s degree from Harvard University, graduating magna cum laude in biochemical sciences. She obtained her medical degree from the Johns Hopkins University School of Medicine and continued at Johns Hopkins for her internship and residency in pediatrics, as well as her fellowship in pediatric endocrinology. She has been on the faculty at the Johns Hopkins University School of Medicine since 1992 and is an associate professor of pediatrics in the Division of Pediatric Endocrinology. In 2010, Dr. Germain-Lee joined the Kennedy Krieger Institute as the director of bone research and associate director of the Osteogenesis Imperfecta Clinic in order to focus her clinical and research efforts on improving the lives of patients with genetic and metabolic bone disorders. She established the Albright Clinic at Kennedy Krieger Institute, which provides care for children and adults with Albright hereditary osteodystrophy from around the world for not only their medical issues but also their developmental disabilities.
Dr. Germain-Lee is the endocrinologist for the Greenberg Center for Skeletal Dysplasias in the Institute of Genetic Medicine at Johns Hopkins and for the Hunter Nelson Sturge-Weber Center at Kennedy Krieger Institute. She is the vice president of the Human Growth Foundation and is an active member of two Johns Hopkins Institutional Review Board (IRB) committees and of the Pediatric Protocol Review Committee of the Johns Hopkins Institute for Clinical and Translational Research. She recently completed a five-year term as an editorial board member of the Journal of Clinical Endocrinology and Metabolism.
March 4, 2011 -- ABC affiliate in Washington, DC broadcasts a story on Kennedy Krieger’s Albright Clinic featuring Dr. Emily Germain-Lee and a patient from the DC area.
December 28, 2010 -- Kennedy Krieger Institute Opens First Clinic for Albright Hereditary Osteodystrophy; Dr. Emily Germain-Lee Brings New Expertise and Research to the Institute
Dr. Germain-Lee’s clinical research and laboratory investigations are focused on Albright hereditary osteodystrophy (AHO) and Osteogenesis Imperfecta (OI). In addition to conducting clinical trials, she is examining mouse models of both conditions. By combining clinical and laboratory studies, her goal is to develop new treatments for patients with AHO and OI. Dr. Germain-Lee identified growth hormone deficiency to be common in patients with pseudohypoparathyroidism type 1a, a subtype of AHO, and she is evaluating the effects of growth hormone treatment on the overall health and quality of life of AHO patients in a large clinical trial. She is also examining the cognitive and behavioral disorders in this condition. A major focus of Dr. Germain-Lee’s research is to determine the mechanisms of abnormal bone formation in both AHO and OI. These investigations have broad implications for all types of bone disorders.
Germain-Lee EL, Groman J, Crane JL, Jan de Beur SM, and Levine, MA: Growth hormone deficiency in pseudohypoparathyroidism type 1a: another manifestation of multihormone resistance. Journal of Clinical Endocrinology and Metabolism 88:4059-4069, 2003. Special Feature article (with accompanying editorial).
Germain-Lee EL: Short stature, obesity, and growth hormone deficiency in pseudohypoparathyroidism type 1a. Pediatric Endocrinology Reviews Volume 3, Suppl 2: 318- 327, 2006.
Long DN, McGuire S, Levine MA, Weinstein LS, and Germain-Lee EL: Body mass index differences in pseudohypoparathyroidism type 1a versus pseudopseudohypoparathyroidism may implicate paternal imprinting of Gαs in the development of human obesity. Journal of Clinical Endocrinology and Metabolism, 92(3): 1073-1079, 2007. [Highlighted in Endocrine News, 32(3):8, 2007]
Plagge A, Kelsey G, and Germain-Lee EL: Physiological functions of the imprinted Gnas locus and its protein variants Gαs and XLαs in human and mouse. Journal of Endocrinology, 96(2): 193-214, 2008.
Long DN, Levine MA, and Germain-Lee EL: Bone mineral density in pseudohypoparathyroidism type 1a. Journal of Clinical Endocrinology and Metabolism 95(9): 4465-4475, 2010.
Joseph AW, Shoemaker AH, and Germain-Lee EL: Increased prevalence of carpal tunnel syndrome in Albright hereditary osteodystrophy. Journal of Clinical Endocrinology and Metabolism 96(7): 2065-2073, 2011.
Huso DL, Edie S, Levine MA, Schwindinger W, Wang Y, Jüppner H, and Germain-Lee EL: Heterotopic ossifications in a mouse model of Albright hereditary osteodystrophy. PLoS One, 6(6): e21755, 2011.