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School of Medicine
Emily Lucy Germain-Lee, M.D.
Pediatric Bone & Mineral Center, Endocrinologist for Sturge-Weber Center and Greenberg Center for Skeletal Dysplasias
Expertise: Albright Hereditary Osteodystrophy (AHO), Pediatrics
Research Interests: Albright hereditary osteodystrophy, pseudohypoparathyroidism, pseudopseudohypoparathyroidism, Sturge-Weber Syndrome, Growth hormone deficiency
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The Johns Hopkins Hospital
Appointment Phone: 410-955-6463
600 N. Wolfe Street
Sheikh Zayed Tower
Baltimore, MD 21287 map
Dr. Emily L. Germain-Lee is an associate professor of pediatrics at the Johns Hopkins University School of Medicine. Her areas of clinical expertise include genetic and metabolic bone disorders.
Dr. 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 Institute, which provides care for medical issues and developmental disabilities caused by Albright hereditary osteodystrophy.
After earning her undergraduate degree in biochemical sciences from Harvard University, Dr. Germain-Lee received 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 Johns Hopkins since 1992. She joined the Kennedy Krieger Institute in 2010.
Dr. Germain-Lee’s clinical research and laboratory investigations are focused on Albright hereditary osteodystrophy and osteogenesis imperfecta.
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 and a member of the board 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.
- Pediatric Bone & Mineral Center, Endocrinologist for Sturge-Weber Center and Greenberg Center for Skeletal Dysplasias
Departments / Divisions
- MD, Johns Hopkins University School of Medicine (1986)
- Johns Hopkins University School of Medicine / Pediatrics (1989)
- Johns Hopkins University School of Medicine / Pediatric Endocrinology (1992)
- American Board of Pediatrics / Pediatric Endocrinology (1995, 2010)
Research & Publications
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.
Clinical Trial KeywordsAlbright hereditary osteodsytrophy, pseudohypoparathyroidism, pseudopseudohypoparathryoidism
He L, Meng S, Germain-Lee EL, Radovick S, Wondisford FE. "Potential biomarker of metformin action." J Endocrinol. 2014 Jun;221(3):363-9. doi: 10.1530/JOE-14-0084. Epub 2014 Mar 17.
Muniyappa R, Warren MA, Zhao X, Aney SC, Courville AB, Chen KY, Brychta RJ, Germain-Lee EL, Weinstein LS, Skarulis MC. "Reduced insulin sensitivity in adults with pseudohypoparathyroidism type 1a." J Clin Endocrinol Metab. 2013 Nov;98(11):E1796-801. doi: 10.1210/jc.2013-1594. Epub 2013 Sep 12.
Siddique L, Sreenivasan A, Comi AM, Germain-Lee EL. "Importance of utilizing a sensitive free thyroxine assay in Sturge-Weber syndrome". J Child Neurol. 2013 Feb;28(2):269-74. doi: 10.1177/0883073812463606. Epub 2012 Oct 30.
Shapiro JR, Germain-Lee EL. "Osteogenesis imperfecta: effecting the transition from adolescent to adult medical care." J Musculoskelet Neuronal Interact. 2012 Mar;12(1):24-7.
Huso DL, Edie S, Levine MA, Schwindinger W, Wang Y, Jüppner H, Germain-Lee EL. "Heterotopic ossifications in a mouse model of albright hereditary osteodystrophy." PLoS One. 2011;6(6):e21755. doi: 10.1371/journal.pone.0021755. Epub 2011 Jun 29.
Activities & Honors
- America’s Top Pediatricians, 2006
- Top Doctors, Baltimore Magazine, 2007
- Best Doctors in America, 2003
- NIH Clinical Investigator Award (K08), NICHD, 1992 - 1997
- The Johns Hopkins Children’s Center Harriet Lane Home Research Fellowship Award, 1989 - 1991
- David Kamsler Award for Compassion and Care of Pediatric Patients, 1989
- Francis F. Schwentker Award for Excellence in Post-doctoral Research, 1989
- Young Investigator’s Day Certificate of Merit, 1986
- Harold Lamport Biomedical Research Prize, 1986
- Helen & Harold Harrison Award for Outstanding Proficiency in Pediatrics, 1986
- Medical Student Research Fellowship Award, American Heart Association, 1984 - 1985
- Special Training Program Award, National Cancer Institute, 1984
- Josephine L. Murray Radcliffe Fellowship Award, 1981
- American Society for Bone and Mineral Research
- Lawson Wilkins Pediatric Endocrine Society
- Society for Pediatric Research
- The Endocrine Society
- Board of Directors, Human Growth Foundation, 2004
- Vice President and member of Executive Committee, Human Growth Foundation, 2006
- Editorial Board, Journal of Clinical Endocrinology and Metabolism, 2007 - 2011