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.

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 Vice President of the Human Growth Foundation, an Editorial Board member of the Journal of Clinical Endocrinology & Metabolism, and an active member of the Institutional Review Board (IRB) for the Johns Hopkins Medical Institutions.

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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, Levine MA. "Growth hormone deficiency in pseudohypoparathyroidism type 1a: another manifestation of multi-hormone resistance." Journal of Clinical Endocrinology and Metabolism 88:4059-4069, 2003. (Feature Article with accompanying editorial)

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 (11): 4697-4709, 2005.

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, 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.

Plagge A, Kelsey G, Germain-Lee EL. "Physiological functions of the imprinted Gnas locus and its protein variants Gαs and XLαs in human and mouse." Journal of Endocrinology 196 (2): 193-214, 2008.

Crane JL, Shamblott MJ, Axelman J, Hsu S, Levine MA, Germain-Lee EL. Imprinting status of Gαs, NESP55, and XLαs in cell cultures derived from human embryonic germ cells. Clinical and Translational Science, 2 (5): 355-360, 2009.

Emily L. Germain-Lee, M.D.
Osteogenesis Imperfecta Clinic
Albright Clinic
Kennedy Krieger Institute
707 North Broadway
Baltimore, MD 21205
Phone: 443-923-2703
Fax: 443-923-2705
germainlee@kennedykrieger.org