Emily Germain-Lee, M.D.

Emily Germain-Lee, MDPrincipal Investigator
Professor of Pediatrics, University of Connecticut School of Medicine
Chief, Division of Pediatric Endocrinology, Connecticut Children’s Medical Center

Email: germainlee@uchc.edu

Publications

 

Dr. Germain-Lee received her Bachelor's degree from Harvard University, graduating magna cum laude in Biochemical Sciences. She received her M.D. 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 served on the faculty at Johns Hopkins since 1992, achieving the rank of Professor in Pediatrics. In 2010, Dr. Germain-Lee also joined the Kennedy Krieger Institute, where she served as the Director of Bone Research, Director of the Albright Center, and Director of the Bone & Osteogenesis Imperfecta Department.

In 2016, Dr. Germain-Lee joined the University of Connecticut School of Medicine as Professor of Pediatrics and also joined Connecticut Children’s Medical Center as Chief of the Division of Pediatric Endocrinology. Her laboratory is in the School of Dental Medicine in the Center for Regenerative Medicine and Skeletal Development. Dr. Germain-Lee has maintained her affiliation with her prior institutions as Adjunct Professor at both Johns Hopkins and Kennedy Krieger.

Dr. Germain-Lee's clinical and laboratory research investigations focus on diseases affecting bone, and she established and directs the Center for Rare Bone Disorders at Connecticut Children’s Medical Center. A major focus of her work is 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, which is caused by mutations in the gene (GNAS) encoding the alpha stimulatory subunit of the G protein thereby disrupting hormonal signaling. Through her Albright Center, which she has moved to Connecticut Children’s, Dr. Germain-Lee currently follows the largest population of these patients worldwide. She has spearheaded multiple clinical trials in AHO. She identified growth hormone deficiency to be a common problem in patients with pseudohypoparathyroidism type 1a and conducted FDA-funded R01 trials evaluating the effects of growth hormone treatment on height, weight, lipid parameters, bone density, and quality of life in AHO. She is also investigating other clinical problems including aberrant bone formation and cognitive/behavioral abnormalities. In addition to her clinical studies related to AHO, Dr. Germain-Lee is conducting laboratory research utilizing a mouse model for AHO that she developed and that recapitulates the human disorder.

Dr. Germain-Lee’s clinical and research interests include other rare bone disorders as well, such as skeletal dysplasias and osteogenesis imperfecta (OI). At Connecticut Children’s, she established and directs the Osteogenesis Imperfecta Center, and in her laboratory at UConn Health, she conducts research utilizing mouse models of OI. Dr. Germain-Lee also works on other rare disorders affecting the endocrine system, including Sturge-Weber syndrome, which also results from defects in G protein-coupled signaling.

Dr. Germain-Lee’s 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 her translational research at UConn Health and Connecticut Children’s Medical Center, Dr. Germain-Lee serves as Vice President of the Human Growth Foundation to help children and adults affected by growth disorders through advocacy, education, and research. She also serves as a member of the Editorial Board of the Journal of Clinical Endocrinology and Metabolism.

Lab Members

Qingfen Yang, M.A.
Research Assistant 2
Email: qyang@uchc.edu