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.

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

• View Dr. Germain-Lee’s full list of publications 

Additional Information

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)

Links

• Research
• UConn Health Profile