Photo of Emily L. Germain-Lee, M.D.

Emily L. Germain-Lee, M.D.

Professor of Pediatrics
Chief, Division of Pediatric Endocrinology
Academic Office Location:
Pediatrics
UConn Health
263 Farmington Avenue
Farmington, CT 06030
Phone: 860-837-7250
Website(s):

Research

Connecticut Children's Profile

Skeletal Biology and Regeneration Graduate Program

Education
DegreeInstitutionMajor
A.B.Harvard UniversityBiochemical Sciences
M.D.Johns Hopkins University School of MedicineMedicine

Post-Graduate Training
TrainingInstitutionSpecialty
InternshipJohns Hopkins HospitalPediatrics
ResidencyJohns Hopkins HospitalPediatrics
FellowshipJohns Hopkins University School of MedicinePediatric Endocrinology

Awards
Name of Award/HonorAwarding Organization
Elected to Connecticut Academy of Science and EngineeringConneticut Academy of Science and Engineering
Selected as one of 30 Women of Distinction for Hartford MagazineHartford Magazine
Hartford Magazine's Best Doctors (for Pediatric Endocrinology) since moving to CT (since 2018)The Best Doctors in America
Connecticut Magazine's Best Doctors (for Pediatric Endocrinology) since moving to CT (since 2018)The Best Doctors in America
Editorial Board of Journal of Clinical Endocrinology and Metabolism: 2017-2019 and 2007-2011Journal of Clinical Endocrinology & Metabolism
Board of Directors (2004 - present)Human Growth Foundation
Vice President of Human Growth Foundation (since 2006)Re-elected by all members of Human Growth Foundation
Chosen by national application process: "Best Children's Hospitals Diabetes and Endocrinology National Working Group" for upcoming US News & World Report Rankings (since 2017, 3rd year on committee)US News & World Report committee:Best Children's Hospitals, endocrinology
Division ranked 43rd in nation in US News & World Report for Best Children's Hospitals (my role: Division Head at Connecticut Children's)US News & World Report
Scientific Advisory Panel, Rare Bone Disease Alliance (since 2017)Rare Bone Disease Alliance and Osteogenesis Imperfecta Foundation
International Expert Consensus Panel on Pseudohypoparathyroidism and Related Disordersformed in 2017; developed 1st international consensus statement
Elected Member of Pediatric Endocrine Society (since 1993)Pediatric Endocrine Society
Elected Member of Society for Pediatric Research since 2001Society for Pediatric Research
Member of Executive Committee (2006-present)Human Growth Foundation
Selected as 1 of 3 International Speakers for "New Treatments for Rare Pediatric Bone Disease" Held at Joint Meeting of the International Congress of Endocrinology and the Endocrine SocietyEndocrine Society
Selected to give 2 "Meet the Expert" talks on "Diagnosis and Management of Pseudohypoparathyroidism and Related Conditions" at International Meeting of Pediatric Endocrinology (audience > 1,000) (meeting attendance: ~4,000)Pediatric Endocrine Society
Semi-finalist, Distinguished Teaching SocietyJohns Hopkins University School of Medicine
The Frederick J. Heldrich, M.D. Award for Dedication and Outstanding Contribution to Medical Student Teaching, Department of PediatricsJohns Hopkins University School of Medicine
Board of DirectorsHuman Growth Foundation
NIH Clinical Investigator Award (K08), NICHDNational Institute of Health
Francis F. Schwentker Award for Excellence in Postdoctoral ResearchJohns Hopkins University School of Medicine
David M. Kamsler Award for Outstanding Compassion and Expert Care of Pediatric Patients (Elected by Faculty, Residents, and Nursing Staff)Johns Hopkins Hospital
Harriet Lane Home Research Fellowship AwardJohns Hopkins Children's Center
Helen and Harold Harrison Award for Outstanding Proficiency in PediatricsJohns Hopkins University School of Medicine
Harold Lamport Biomedical Research PrizeJohns Hopkins University School of Medicine
Special Training Program AwardNational Cancer Institute
Josephine L. Murray Radcliffe Fellowship AwardHarvard University
Magna Cum Laude - Biochemical Sciences, Harvard-Radcliffe CollegeHarvard University

Rare bone disorders

Student coach for MD/PhD students


Mentoring in lab and clinics

Name & DescriptionCategoryRoleTypeScopeStart YearEnd Year
Chair of Research Council (elected by members of Research Council), term ends 2021Research CommitteeHeadUConn HealthLocal2019
Selected for Graduate Program in Skeletal Biology and Regenerative MedicineEducation CommitteeMemberUConn HealthLocal2019
Organizer and moderator (one of three) for 1st Pediatric Bone SymposiumWorkshop/ConferenceOrganizer/ModeratorExternalNational2019
Abstract Reviewer, 1st Pediatric Bone SymposiumWorkshop/ConferenceAbstract Reviewer (also Co-organizer)ExternalNational2019
Organizer (one of three) for 2nd Pediatric Bone SymposiumWorkshop/ConferenceOrganizer/ModeratorExternalInternational2019
Dean's CouncilAdvisory CommitteememberUConn HealthLocal2019
Connecticut Academy of Science and EngineeringResearch CommitteeElected memberExternalInternational2019
Research Council member at UConn Health (3-yr term)-Elected by vote of all UConn Health faculty Head of Research Council as of 7/1/19 through 6/30/21Research Committeeelected memberUConn HealthLocal2018
Senior Appointments and Advisory Committee (SAPC), Secondary Reviewer since 2018Advisory Committeesecondary reviewerUConn HealthLocal2017
Editorial Board, Journal of Clinical Endocrinology & Metabolism (3-yr term)Editorial BoardmemberExternalInternational20172019
Ultragenyx Pharmaceutical Advisory Board (Rare Bone Disease)Advisory CommitteememberExternalInternational20172018
Scientific Advisory Panel, Rare Bone Disease Alliance: mission is to expand education and research on rare bone disease and provide assistance to patients and family members.Advisory CommitteememberExternalInternational2017
Selected to "Best Children's Hospitals Diabetes and Endocrinology National Working Group" for 2018-2019 U.S. New & World Report Rankings, yearly electionAdvisory CommitteememberExternalNational2017
Program Evaluation Committee for Pediatric Endocrinology Fellowship, University of Connecticut School of Medicine/Connecticut Children'sEducation CommitteeMember as Division DirectorUConn HealthUniversity2017
Serve as a reviewer for multiple journals (approx.1- 2 articles/month not including editorial board article reviews)OtherReviewerExternalInternational2017
Scholarship Oversight Committee for Pediatric Endocrinology Fellowship,University of Connecticut School of Medicine and Connecticut Children's MedicalAdvisory CommitteeCommittee memberUConn HealthLocal2017
American Society for Bone and Mineral Research Meeting, Rare Bone Disease Working GroupWorkshop/ConferenceMemberExternalInternational2017
International Expert Consensus Panel on Diagnosis & Management of Pseudohypoparathyroidism & Related DisordersAdvisory CommitteeInvestigator/ClinicianOtherUniversity2017
Selected to "Best Children's Hospitals Diabetes and Endocrinology National Working Group" for 2019-2020 U.S. New & World Report Rankings (yearly election)Advisory CommitteeCommittee memberOtherUniversity2017
Selected to "Best Children's Hospitals Diabetes and Endocrinology National Working Group" for 2020-2021 U.S. New & World Report Rankings (yearly election)Advisory CommitteeMember of CommitteeOtherNational2017
Department of Pediatrics Promotions Committee, University of Connecticut School of Medicine/Connecticut Children'sAdvisory CommitteereviewerUConn HealthLocal2017
Clinical Competency Committee for Pediatric Endocrinology Fellowship, University of Connecticut School of MedicineAdvisory CommitteeDivision DirectorUConn HealthLocal2017
Department of Pediatrics Promotions Committee, University of Connecticut School of Medicine and Connecticut Children'sAdvisory CommitteeMember of CommitteeUConn HealthLocal2017
Division Head of Pediatric Endocrinology and Diabetes, Connecticut Children's Medical CenterOtherDivision HeadOtherRegional2016
Director/Founder, Center for Rare Bone Disorders, Connecticut Children’s Medical Center and University of Connecticut School of MedicineOtherDirector and FounderExternalInternational2016
Founder and Director, Albright Center, University of Connecticut School of Medicine/ Connecticut Children'sOtherFounder, DirectorExternalInternational2016
Founder and Co-Director, Osteogenesis Imperfecta CenterOtherFounder and Co-directorOtherNational2016
Pediatric Endocrinology Fellowship Interviews, University of Connecticut School of Medicine/Connecticut Children'sOtherInterviewer and aided in decisionUConn HealthLocal2016
CME Advisory Board Committee, Johns Hopkins University School of Medicine - invited by DeanAdvisory CommitteeUniversity20132016
Director of Bone Research at Kennedy Krieger InstituteDirectorExternalInternational20102016
Albright Clinic at Kennedy Krieger Institute; Founded and established Albright Clinic at Kennedy Krieger Institute in 2010; First clinic dedicated to the care and management of patients with Albright hereditary osteodystrophy and related disordersFounder and DirectorExternalInternational20102016
Combined Genetics-Endocrine Clinic/Research, McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine; Established clinic with Dr. Julie Hoover-Fong in Institute of Genetic Medicine; Provides genetics and endocrine care to patients with skeletal dysplasias/rare disorders -- since move to UConn/CCMC, this role is advisory in natureOtherCo-Founder and Co-DirectorExternalInternational2010
Osteogenesis Imperfecta Foundation Scientific MeetingProfessional/Scientific OrganizationResearcherExternalInternational2010
Institutional Review Board (IRB-2 and IRB-X) Pediatrics Representative and Protocol Reviewer, Johns Hopkins Medicine, Office of Human Subjects ResearchAdvisory CommitteeUniversity20072016
Editorial Board, Journal of Clinical Endocrinology & Metabolism (5-year term)Editorial BoardmemberExternalInternational20072011
Vice President and member of Executive committee, Human Growth FoundationProfessional/Scientific OrganizationExecutive Committee MemberExternalInternational2006
Vice President of Human Growth FoundationProfessional/Scientific OrganizationVice PresidentExternalInternational2006
Human Growth Foundation Nominating CommitteeProfessional/Scientific OrganizationNominating Committee MemberExternalInternational2006
Grant Review Committee, Human Growth FoundationResearch CommitteeGrant ReviewerExternalLocal2006
Institute for Clinical and Translational Research (ICTR) Pediatric Protocol Review and Advisory Committee, Johns Hopkins University School of Medicine, formerly GCRCAdvisory CommitteeProtocol ReviewerUniversity20042016
Board of Directors, Human Growth FoundationOtherBoard of DirectorsExternalInternational2004
Principal Endocrinologist for The Greenberg Center for Skeletal Dysplasias, McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MDOtherphysician/scientistExternalInternational2003
American Society for Bone and Mineral ResearchProfessional/Scientific OrganizationmemberExternalInternational2003
Principal Endocrinologist for The Hunter Nelson Sturge-Weber Center, Kennedy Krieger Institute, Baltimore, MDOtherphysician/scientistExternalInternational2002
Society for Pediatric ResearchProfessional/Scientific OrganizationInvited memberExternalInternational2001
Pediatric Endocrine SocietyProfessional/Scientific OrganizationInvited memberExternalNational1993
American Diabetes AssociationProfessional/Scientific OrganizationmemberExternalNational1993

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. 

Not accepting lab rotation students at this time


Journal Articles

Book Chapters

  • Effects of aging on bone: Chapter 3.
    DiGirolamo DJ, Germain-Lee EL. A Comprehensive Guide to Geriatric Rehabilitation, 3rd edition 2014 Dec;14-18
  • Growth and growth hormone use in osteogenesis imperfecta; Chap 29.
    Germain-Lee EL, DiGirolamo DJ, Plotkin H. Osteogenesis Imperfecta: A Translational Approach to Brittle Bone Disease, 1st edition, 2013 Dec;267-280
  • Diabetes; Chapter 48
    Long DN, Probst C, Kelley DE, Germain-Lee EL. Geriatric Rehabilitation Manual, 2nd edition; 2007 Dec;307-313
  • Effects of aging on bone; Chapter 3.
    Germain-Lee EL, Checovich MM, Smith EL, Lundon K. Geriatric Rehabilitation Manual, 2nd edition 2007 Dec;13-15
  • Primary hyperparathyroidism and other causes of hypercalcemia in children and adolescents; Chapter 46.
    Germain-Lee EL and Levine MA. The Parathyroids: Basic and Clinical Concepts, 2nd edition 2001 Dec;743-753
  • The Thyroid; Chapter 11
    Germain-Lee EL and Plotnick LP. Hospital Care of the Recovering NICU Infant 1991 Dec;161-175
  • Expression of keratins and envelope proteins in normal and malignant human keratinocytes and mesothelial cells; Chap 3.
    Rheinwald JG, Germain EL, Beckett MA. Human Carcinogenesis 1983 Dec;85-96

Abstracts

  • Gnas heterozygous inactivation in a mouse model of Albright hereditary osteodystrophy differentially affects cortical bone formation based upon parental inheritance of mutation.
    McMullan, Patrick; Maye, Peter; Rowe, David, Germain-Lee, Emily L. Journal of Bone and Mineral Research 2020 Sep;

Case Reports

Letters

Reviews

Title or AbstractTypeSponsor/EventDate/YearLocation
NASA Television Station: what's on Board: Space X CRS-19" -television show for live audienceOtherNASA pre-launch of RR-19 rodent mission: Mighty Mice in Space2019Kenney Space Center, NASA press headquarters
"From Rare Bone Disorders to Type 1 Diabetes"TalkConnecticut Children's Foundation2019Connecticut Children's
"Albright Hereditary Osteodystrophy"LectureUConn Bone Research Group2019UConn Health
State advocacy for Rare Bone Disorders: "Rare Bone Disorders: Helping Through Clinical Care & Research" presented to Connecticut State LegislatureTalkTask Force to Study Rare Diseases, State of Connecticut General Assembly2018Hartford, CT
Rare Bone Disorders: From Bedside to Bench and Back-- Pediatric Translational Research Seminar SeriesTalkUniv of Connecticut Dept of Pediatrics/ Connnecticut Children's2018UConn Health
Dean's Faculty Research Seminar, University of Connecticut School of Medicine; Albright Hereditary Osteodystrophy: From Bedside to Bench and Back AgainTalkUniversity of Connecticut School of Medicine2017Farmington, CT
Presentation to Board of Connecticut Children's Medical Center; Center for Rare Bone DisordersTalkConnecticut Children's Medical Center2017Hartford, CT
Presentation to Leadership Committee, CCMC/CCSG Leadership; Center for Rare Bone DisordersTalkConnecticut Children's2017Hartford, CT
Bone Research Group weekly meeting entitled "Research in Progress"; Albright Hereditary Osteodystrophy (for all researchers in bone disease at UConn Health)TalkUConn Health2017Farmington, CT
State of Connecticut Higher Education Legislature testimony advocating for the University of Connecticut School of Medicine (testimony for protecting budget)- 10/2/17Panel DiscussionUniversity of Connecticut School of Medicine2017University of Connecticut School of Medicine
"Meet the Expert" - Diagnosis and Management of Pseudohypoparathyroidism and Related Conditions. (Invited) (Given twice, audience >1000)Plenary Lecture10th International Pediatric Endocrine Society Meeting2017Washington, D.C.
Rare Bone Disorders: From Bedside to Bench and Beyond; 50th Anniversary of Department of Pediatrics at University of Connecticut School of MedicinePlenary LectureDept of Pediatrics, UConn School of Medicine/Connecticut Children's2017Hartford, CT
Vision for the Future of the Division of Pediatric Endocrinology, Connecticut Children's Medical CenterTalkConnecticut Children's Medical Center2017Connecticut Children's, Farmington
Update for Vision for the Future of the Division of Pediatric Endocrinology,Connecticut Children's Medical CenterTalkConnecticut Children's Medical Center2017Connecticut Children's, Farmington
International Expert Consensus on Pseudohypoparathyroidism and Related Disorders -- Invited expert as member of Working Group 3: Clinical ManagementOtherInternat'l Expert Consensus on Pseudohypoparathyroidism/Related Disorders2017Chantilly-Gouvieux, France
"Adrenal Disorders" at "31st Annual Pediatrics Update" at Danbury HospitalLectureDanbury Hospital2016Danbury, CT
Endocrine Scholars Conference, “Albright hereditary osteodystrophy: From Bedside to Bench and Back”TalkDivision of Endocrinology, University of Connecticut School of Medicine2016Farmington, CT