Rare Bone Disorders

Led by Emily Germain-Lee, MD—a world-renowned pediatric endocrinologist specializing in rare bone disorders—Connecticut Children’s Center for Rare Bone Disorders treats patients from all over the world. Conditions we treat include Albright Hereditary Osteodystrophy (AHO), Osteogenesis Imperfecta (OI), Skeletal Dysplasias and many other genetic and metabolic bone disorders.

Dr. Germain-Lee is a distinguished researcher who established the first clinic dedicated to AHO and pioneered therapeutic approaches to treat AHO patients based on her findings. Because she follows the largest population of AHO patients worldwide, she is often able to identify and address underlying issues common to AHO patients before they progress, improving patients’ long-term health and quality of life. She also works on other rare bone disorders, focused on translating findings in the lab to therapies that can be delivered to patients to improve their quality of life.

Dr. Germain-Lee is on the Scientific Advisory Panel of the Rare Bone Disease Alliance and recently collaborated with nearly 50 global researchers on the first international Consensus Statement on diagnosis and management of pseudohypoparathyroidism and related disorders published in Nature Reviews Endocrinology.

Rare Bone Disorders

Led by Emily Germain-Lee, MD—a world-renowned pediatric endocrinologist specializing in rare bone disorders—Connecticut Children’s Center for Rare Bone Disorders treats patients from all over the world. Conditions we treat include Albright Hereditary Osteodystrophy (AHO), Osteogenesis Imperfecta (OI), Skeletal Dysplasias and many other genetic and metabolic bone disorders.

Dr. Germain-Lee is a distinguished researcher who established the first clinic dedicated to AHO and pioneered therapeutic approaches to treat AHO patients based on her findings. Because she follows the largest population of AHO patients worldwide, she is often able to identify and address underlying issues common to AHO patients before they progress, improving patients’ long-term health and quality of life. She also works on other rare bone disorders, focused on translating findings in the lab to therapies that can be delivered to patients to improve their quality of life.

Dr. Germain-Lee is on the Scientific Advisory Panel of the Rare Bone Disease Alliance and recently collaborated with nearly 50 global researchers on the first international Consensus Statement on diagnosis and management of pseudohypoparathyroidism and related disorders published in Nature Reviews Endocrinology.

“The most rewarding experience that I have on a regular basis is figuring out the diagnosis and treatment for a child who has been undiagnosed and then being able to change their life’s course through appropriate diagnosis, management, and treatment.”

– Emily Germain-Lee, MD

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“The most rewarding experience that I have on a regular basis is figuring out the diagnosis and treatment for a child who has been undiagnosed and then being able to change their life’s course through appropriate diagnosis, management, and treatment.”

– Emily Germain-Lee, MD

LEARN MORE >

OI Education and Support Group

Join Connecticut Children’s OI Education and Support Group:

Tuesday, November 13, 2018
12:00-1:00 p.m.
Connecticut Children’s Specialty Care Center – Farmington
505 Farmington Ave., 2nd Floor
Farmington, CT
Directions

Topic:
Dental Issues in Osteogenesis Imperfecta
Presented by:
Gary S. Schulman, DMD M Arch
Diplomate, American Board of Pediatric Dentistry
Assistant Clinical Professor, University of Connecticut School of Dental Medicine
Smiles for the Future Pediatric Dentistry and Orthodontics

REGISTER >

OI Education and Support Group

Join Connecticut Children’s OI Education and Support Group:

Tuesday, November 13, 2018
12:00-1:00 p.m.
Connecticut Children’s Specialty Care Center – Farmington
505 Farmington Ave., 2nd Floor
Farmington, CT
Directions

Topic:
Dental Issues in Osteogenesis Imperfecta
Presented by:
Gary S. Schulman, DMD M Arch
Diplomate, American Board of Pediatric Dentistry
Assistant Clinical Professor, University of Connecticut School of Dental Medicine
Smiles for the Future Pediatric Dentistry and Orthodontics

REGISTER >

Our Providers

Dr. Gyula Acsadi headshot
Gyula Acsadi, MD, PhD
Division Head, Neurology
Professor of Pediatrics and Neurology, University of Connecticut School of Medicine

Dr. Germain-Lee headshot
Emily L. Germain-Lee, MD
Chief, Division of Pediatric Endocrinology & Diabetes
Director, Center for Rare Bone Disorders
Director, Albright Center
Co-director, Osteogenesis Imperfecta Center
Professor of Pediatrics, University of Connecticut School of Medicine

dr. lau headshot
Ching C. Lau, MD, PhD
Division Head, Center for Cancer & Blood Disorders
Professor at the Jackson Laboratory for Genomic Medicine
Professor of Pediatrics, University of Connecticut School of Medicine