Emily L. Germain-Lee, MD

Meet Emily L. Germain-Lee, MD

Education

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

Board Certifications

Faculty Appointment

Professor of Pediatrics, University of Connecticut School of Medicine
Adjunct Professor, Johns Hopkins University School of Medicine/Kennedy Krieger Institute

Clinical Expertise

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.

Links

• Research
• UConn Health Profile
• Academic Appointments and Activities

Selected Publications

• 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

• 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. J Clin Endocrinol Metab. 92(3):1073-1079, 2007. [highlighted in Endocrine News, 32(3):8, 2007] PMID 17164301

• 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. J Endocrinol. 196(2):193-214, 2008. PMID 18252944

• Comi AM, Bellamkonda S, Ferenc LM, Cohen BA, Germain-Lee EL. Central hypothyroidism and Sturge-Weber Syndrome. Pediatr Neurol. 39(1):58-62, 2008. PMID 18555176

• 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. Clin Trans Sci. 2(5):355-360, 2009. PMID 20443919

• Long DN, Levine MA, Germain-Lee EL. Bone mineral density in pseudohypoparathyroidism type 1a. J Clin Endocrinol Metab. 95(9):4465-4475, 2010. PMID 20610593

• Joseph AW, Shoemaker AH, Germain-Lee EL. Increased prevalence of carpal tunnel
  syndrome in Albright hereditary osteodystrophy. J Clin Endocrinol Metab. 96(7):2065-2073, 2011. PMID 21525160

• 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. 6(6):e21755, 2011. PMID 21747923

• Germain-Lee EL. A new culprit in osteogenesis imperfecta. J Bone Miner Res.
  26(12):2795-2797, 2011. PMID 22105742

• Shapiro J, Germain-Lee EL. Osteogenesis imperfecta: effecting the transition from adolescent to adult medical care. J Musculoskelet Neuronal Interact. 12(1):24-27, 2012. PMID 22373948

• Siddique L, Sreenivasan A, Comi AM, Germain-Lee EL. Importance of utilizing a sensitive free T4 assay in Sturge-Weber Syndrome. J Child Neurol. 28(2):269-274, 2013. PMID 23112245

• Germain-Lee EL, DiGirolamo DJ, Plotkin H. Growth and growth hormone use in osteogenesis imperfecta; Chap 29. Shapiro JR, Byers PH, Glorieux F, Sponseller PD (eds): Osteogenesis Imperfecta: A Translational Approach to Brittle Bone Disease, 1st edition, Elsevier Press, 2013:267-280.

• DiGirolamo DJ, Singhal V, Chang X, Lee S-J, Germain-Lee EL. Administration of soluble activin receptor 2B increases bone and muscle mass in a mouse model of osteogenesis imperfecta. Bone Res. 3:14042, 2015. PMID 26161291

• Bachur C, Comi A, Germain-Lee EL. Partial hypopituitarism in patients with Sturge- Weber syndrome. Pediatr Neurol. 53(3):e5-6, 2015. PMID 26166325

• Germain-Lee EL, Brennen F-S, Stern D, Kantipuly A, Melvin P, Terkowitz MS, Shapiro JR. Cross-sectional and longitudinal growth patterns in osteogenesis imperfecta: implications for clinical care. Pediatr Res. 79(3):489-495, 2016. PMID 26539664

• Salemi P, Olson JM, Dickson LE, Germain-Lee EL. Ossifications in Albright hereditary osteodystrophy: role of genotype, inheritance, sex, age, hormonal status, and BMI. J Clin Endocrinol Metab. Accepted 10/16/2017, published online 10/19/2017. DOI 10.1210/jc.2017-00860.

• Mantovani G, Bastepe M, Monk D, de Sanctis L, Thiele S, Usardi A, Ahmed SF, Bufo R, Choplin T, De Filippo G, Devernois G, Eggermann T, Elli FM, Freson K, Garcia Ramirez A, Germain-Lee EL… Perez de Nanclares G, Linglart A (46 authors). Diagnosis and management of pseudohypoparathyroidism and related disorders: first international Consensus Statement. Nat Rev Endocrinol. 2018 Aug;14(8):476-500.

• Germain-Lee EL. Management of pseudohypoparathyroidism. Curr Opin Pediatr. 2019 May 28. doi: 10.1097/MOP.0000000000000783. [Epub ahead of print]

Additional Information

Academic Appointments and Activities

Academic Appointments

• Assistant Professor, Department of Pediatrics, Division of Pediatric Endocrinology,
  Johns Hopkins University School of Medicine, Baltimore, MD, 1992 – 2003
• Associate Professor, Department of Pediatrics, Division of Pediatric Endocrinology,
  Johns Hopkins University School of Medicine, Baltimore, MD, 2003 – 2016
• Research Scientist/Faculty, Kennedy Krieger Institute, Baltimore, MD, 2010 – 2016
• Professor (with tenure), Department of Pediatrics, Johns Hopkins University School of
  Medicine, Baltimore, MD, 2016
• Chief, Division of Pediatric Endocrinology and Diabetes, Connecticut Children’s Medical
  Center, Hartford/Farmington, CT, 2016 – present
• Professor (with tenure), Department of Pediatrics, University of Connecticut School of
  Medicine, Farmington, CT, 2016 – present

Additional Professional Positions/Experience

• Principal Endocrinologist for The Hunter Nelson Sturge-Weber Center, Kennedy Krieger
  Institute, Baltimore, MD, 2002 – present
• Director, Johns Hopkins Pediatric Bone and Mineral Center, Baltimore, MD, 2003 – 2009
• Principal Endocrinologist for The Greenberg Center for Skeletal Dysplasias, McKusick-
  Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine,
  Baltimore, MD, 2003 – present
• Associate Director, Bone and Osteogenesis Imperfecta Department, Kennedy Krieger
  Institute, Baltimore, MD, 2010 – 2015
• Director, Bone Research, Kennedy Krieger Institute, Baltimore, MD, 2010 – 2016
• Director/Founder, Albright Clinic, Kennedy Krieger Institute, Baltimore, MD, 2010 – 2016
• Co-Director/Co-Founder, Combined Genetics-Endocrine Clinic, McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, 2010 – present
• Director, Bone and Osteogenesis Imperfecta Department, Kennedy Krieger Institute, 2015 – 2016
• Adjunct Professor of Pediatrics, Johns Hopkins University School of Medicine, 2016 – present
• Adjunct Research Scientist/Professor, Kennedy Krieger Institute, 2016 – present
• Director/Founder, Center for Rare Bone Disorders, Connecticut Children’s Medical Center,
  Hartford/Farmington CT, 2016 – present
• Director/Founder, Albright Center, Connecticut Children’s Medical Center, Farmington CT, 2016 – present
• Co-Director/Founder, Osteogenesis Imperfecta Center, Connecticut Children’s Medical Center, 2016 – present

Advisory & Editorial Boards

• Board of Directors, Human Growth Foundation, 2004 – present
• Vice President, Human Growth Foundation, 2006 – present
• Member of Executive Committee, Human Growth Foundation, 2006 – present
• Editorial Board Member, Journal of Clinical Endocrinology and Metabolism (5-year term), 2007 – 2011
• Institutional Review Board: Member of two IRB committees (IRB-2 and IRB-X), Pediatrics Representative and Protocol Reviewer, Johns Hopkins University School of Medicine, 2007 – 2016
• Scientific Advisory Panel, Rare Bone Disease Alliance, 2017 – present
• Ultragenyx Pharmaceuticals Advisory Board (for rare bone disease), 2017 – present
• Best Children’s Hospitals Diabetes & Endocrinology Working Group for 2018-2019 U.S. News & World Report Rankings, 2017 – present
• Editorial Board, Journal of Clinical Endocrinology and Metabolism (3-year term), 2017 – present

Honors

• Elected member, Connecticut Academy of Science & Engineering

Clinical Interests

• Bone and Mineral Disorders
• Rare Bone Disorders
• Albright Hereditary Osteodystrophy (AHO)
• Osteogenesis Imperfecta (OI)
• Sturge-Weber Syndrome (SWS)