Emily Germain-Lee, MD

Director, Center for Rare Disease | Head of Academic Affairs and Research, Endocrinology | Director, Center for Rare Bone Disorders | Director, Albright Center | Director, Osteogenesis Imperfecta Center

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 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.

Education

Johns Hopkins School of Medicine

Residency

Johns Hopkins Medical Institute

Fellowship

Johns Hopkins School of Medicine

American Board of Pediatrics - Pediatric Endocrinology
  • Professor of Pediatrics, University of Connecticut School of Medicine
  • Adjunct Professor, Johns Hopkins University School of Medicine/Kennedy Krieger Institute

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
  • Division Head, Pediatric Endocrinology and Diabetes, Connecticut Children’s Medical
    Center, Hartford/Farmington, CT, 2016 – 2023
  • 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

Locations Where I See Patients

Exterior of 505 Farmington Avenue

Connecticut Children's Specialty Care and Surgery Center – Farmington

505 Farmington Avenue
Farmington, CT06032
United States

Screengrab from Meet Dr. Germain-Lee video