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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.
Bachur C, Comi A, Germain-Lee EL. (2015). Partial hypopituitarism in patients with Sturge-Weber syndrome. Pediatric Neurology. In Press.
DiGirolamo DJ, Singhal V, Chang X, Lee S-J, Germain-Lee EL. (2015). Administration of soluble activin receptor 2B increases bone and muscle mass in a mouse model of osteogenesis imperfecta. Bone Research, 3, 14042. doi:10.1038/boneres.2014.42.
Lin MH, Numbenjapon N, Germain-Lee EL, Pitukcheewanont P. (2015). Progressive osseous heteroplasia, as an isolated entity or overlapping with Albright hereditary osteodystrophy. Journal of Pediatric Endocrinology & Metabolism. doi: 10.1515/jpem-2014-0435.
Wolf DS, Golden WC, Hoover-Fong J, Applegate C, Cohen BA, Germain-Lee EL, Goldberg MF, Crawford TO, Gauda EB. (2015). High-dose glucocorticoid therapy in the management of seizures in neonatal incontinentia pigmenti: a case report. Journal of Child Neurology, 30(1), 100-106.
He L, Meng S, Germain-Lee E, Radovick S, Wondisford FE. Potential biomarker of metformin action. The Journal of Endocrinology, 221(3), 363-369. (One of 5 top journal articles selected by Society for Endocrinology for 2014.)
Shapiro JR, Germain-Lee EL. (2013). Rare bone disease research – future directions: a symposium devoted to a discussion of rare bone diseases. Seminars in Arthritis and Rheumatism, 42(5), 545-550.
Muniyappa R, Warren MA, Zhao X, Aney SC, Courville AB, Chen KY, Brychta RJ, Germain-Lee EL, Weinstein LS, Skarulis MC. (2013). Reduced insulin sensitivity in adults with pseudohypoparathyroidism type 1a. The Journal of Clinical Endocrinilogy and Metabolism, 98(11), E1796-1801.
Siddique L, Sreenivasan A, Comi AM, Germain-Lee EL. (2013). Importance of utilizing a sensitive free thyroxine assay in Sturge-Weber syndrome. Journal of Child Neurology, 28(2), 269-274.
Germain-Lee EL, DiGirolamo DJ, Plotkin H. (2013). Growth and growth hormone use in osteogenesis imperfecta. In Shapiro JR, Byers PH, Glorieux F, Sponseller PD, Osteogenesis Imperfecta: A Translational Approach to Brittle Bone Disease: First Edition (pp-267-276). Elsevier Press.
DiGirolamo DJ, Germain-Lee EL. Effects of aging on bone: Chapter 3. In Kauffman TL, Scott R, Barr JO, Moran ML (eds): A Comprehensive Guide to Geriatric Rehabilitation, 3rd edition; London, Elsevier Press, 2014:14-18.
Shapiro JR, Germain-Lee EL. (2012). Osteogenesis imperfecta: effecting the transition from adolescent to adult medical care. Journal of Musculoskeletal & Neuronal Interactions, 12(1), 24-27.
Huso DL, Edie S, Levine MA, Schwindinger W, Wang Y, Jüppner H, Germain-Lee EL. (2011). Heterotopic ossifications in a mouse model of albright hereditary osteodystrophy. PLoS One, 6(6), e21755.
Joseph AW, Shoemaker AH, Germain-Lee EL. (2011). Increased prevalence of carpal tunnel syndrome in albright hereditary osteodystrophy. The Journal of Clinical Endocrinilogy and Metabolism, 96(7), 2065-2073.
Leung DG, Germain-Lee EL, Denger BE, Wagner KR. (2011). Report on the Second Endocrine Aspects Of Duchenne Muscular Dystrophy Conference December 1-2, 2010, Baltimore, Maryland, USA. Neuromuscular Disorders, 21(8), 594-601.
Myllylä RM, Haapasaari KM, Palatsi R, Germain-Lee EL, Hägg PM, Ignatius J, Tuukkanen J. (2011). Multiple miliary osteoma cutis is a distinct disease entity: four case reports and review of the literature. The British Journal of Dermatology, 164(3), 544-552.
Germain-Lee EL. (2011). A new culprit in osteogenesis imperfecta. Journal of Bone and Mineral Research, 26(12), 2795-2797.
Long DN, Levine MA, Germain-Lee EL. (2010). Bone mineral density in pseudohypoparathyroidism type 1a. The Journal of Clinical Endocrinilogy and Metabolism, 95(9), 4465-4475.
Lietman SA, Germain-Lee EL, Levine MA. (2010). Hypercalcemia in children and adolescents. Current Opinion in Pediatrics, 22(4), 508-515.
Crane JL, Shamblott MJ, Axelman J, Hsu S, Levine MA, Germain-Lee EL. (2009). Imprinting status of Galpha(s), NESP55, and XLalphas in cell cultures derived from human embryonic germ cells: GNAS imprinting in human embryonic germ cells. Clinical and Translational Science, 2(5), 355-360.
Comi AM, Bellamkonda S, Ferenc LM, Cohen BA, Germain-Lee EL. (2008). Central hypothyroidism and Sturge-Weber syndrome. Pediatric Neurology, 39(1), 58-62.
Plagge A, Kelsey G, Germain-Lee EL. (2008). Physiological functions of the imprinted Gnas locus and its protein variants Galpha(s) and XLalpha(s) in human and mouse. The Journal of Encrinology, 196(2), 193-214.
Hsu SC, Groman JD, Merlo CA, Naughton K, Zeitlin PL, Germain-Lee EL, Boyle MP, Cutting GR. (2007). Patients with mutations in Gsalpha have reduced activation of a downstream target in epithelial tissues due to haploinsufficiency. The Journal of Clinical Endocrinology and Metabolism, 92(10), 3941-3948.
Long DN, McGuire S, Levine MA, Weinstein LS, Germain-Lee EL. (2007). Body mass index differences in pseudohypoparathyroidism type 1a versus pseudopseudohypoparathyroidism may implicate paternal imprinting of Galpha(s) in the development of human obesity. The Journal of Clinical Endocrinology and Metabolism, 92(3), 1073-1079.
Long DN, Probst, Kelley DE, Germain-Lee EL. (2007). Diabetes. In Kauffman TL, Barr J, Moran M, Geriatric Rehabilitation Manual: Second Edition (pp 307-313). London: Elsevier Press.
Germain-Lee EL, Checovich MM, Smith EL, Lundon K. (2007). Effects of aging on bone. In Kauffman TL, Barr J, Moran M, Geriatric Rehabilitation Manual: Second Edition (pp 13-15). London: Elsevier Press.
Schulze KJ, Cutchins C, Rosenstein BJ, Germain-Lee EL, O'Brien KO. (2006). Calcium acquisition rates do not support age-appropriate gains in total body bone mineral content in prepuberty and late puberty in girls with cystic fibrosis. Osteoporosis International, 175(5), 731-740.
Miller RS, Ball KL, Comi AM, Germain-Lee EL. (2006). Growth hormone deficiency in Sturge-Weber syndrome. Archives of Disease in Childhood, 91(4), 340-341.
Germain-Lee EL. (2006). Short stature, obesity, and growth hormone deficiency in pseudohypoparathyroidism type 1a. Pediatric Endocrinology Review, 3(Suppl 2), 318-327.
Germain-Lee EL, Schwindinger W, Crane JL, Zewdu R, Zweifel LS, Wand G, Huso DL, Saji M, Ringel MD, Levine MA. (2005). A mouse model of albright hereditary osteodystrophy generated by targeted disruption of exon 1 of the Gnas gene. Endocrinology, 146(11), 4697-4709.
Schulze KJ, O'Brien KO, Germain-Lee EL, Booth SL, Leonard A, Rosenstein BJ. (2004). Calcium kinetics are altered in clinically stable girls with cystic fibrosis. The Journal of Clinical Endocrinology and Metabolism, 89(7), 3385-3391.
Levine MA, Germain-Lee EL, Jan de Beur S. (2003). Genetic basis for resistance to parathyroid hormone. Hormone Research, 60(3), 87-95.
Germain-Lee EL, Groman J, Crane JL, Jan de Beur SM, Levine, MA. (2003). Growth hormone deficiency in pseudohypoparathyroidism type 1a: another manifestation of multi-hormone resistance. The Journal of Clinical Endocrinology and Metabolism, 88(9), 4059-4069. Special Feature article (with accompanying editorial).
Schulze KJ, O’Brien KO, Germain-Lee EL, Baer DJ, Leonard A, Rosenstein BJ. (2003). Efficiency of calcium absorption is not compromised in clinically stable prepubertal and pubertal girls with cystic fibrosis. The American Journal of Clinical Nutrition, 78(1), 110-116.
Jan de Beur S, Ding C, Germain-Lee EL, Cho J, Maret A, Levine MA. (2003). Discordance between genetic and epigenetic defects in pseudohypoparathyroidism type 1b revealed by inconsistent loss of maternal imprinting of GNAS1. American Journal of Human Genetics, 73(2), 314-322.
Schulze KJ, O’Brien KO, Germain-Lee EL, Baer DJ, Leonard AL, Rosenstein BJ. (2003). Endogenous fecal losses of calcium compromise calcium balance in pancreatic-insufficient girls with cystic fibrosis. The Journal of Pediatrics, 143(6), 765-771.
Germain-Lee EL, Ding CL, Deng Z, Crane JL, Saji M, Ringel MD, Levine MA. (2002). Paternal imprinting of Gαs in the human thyroid as the basis of TSH resistance in pseudohypoparathyroidism type 1a. Biochemical and Biophysical Research Communications, 296(1), 67-72.
Germain-Lee EL, Levine MA. Primary hyperparathyroidism and other causes of hypercalcemia in children and adolescents; Chap 46. Bilezikian JP, Marcus R., Levine MA (eds): The Parathyroids: Basic and Clinical Concepts, 2nd edition; San Diego, Academic Press, 2001: 743-753.