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Rare Bone Disorders
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Connecticut Children’s Center for Rare Bone Disorders

Connecticut Children’s Center for Rare Bone Disorders has a team dedicated to the management and care of many genetic and metabolic bone disorders, including:

  • Albright Hereditary Osteodystrophy
    • Pseudohypoparathyroidism type 1A (PHP1A)
    • Pseudopseudohypoparathyroidism (PPHP)
  • Pseudohypoparathyroidism Spectrum of Disorders including PHP1B and Acrodysostosis
  • Osteogenesis Imperfecta
  • Skeletal Dysplasias
  • Rare Metabolic Bone Disorders

Convenient Care

Specialists focused on treating rare pediatric bone disorders are in your neighborhood. Choose one of three convenient locations for pediatric care:

Discovering New Treatments through Research

Connecticut Children’s Center for Rare Bone Disorders is led by Emily Germain-Lee, MD, a world-renowned pediatric endocrinologist specializing in rare bone disorders. In partnership with The Jackson Laboratory and UConn Health, she conducts clinical research focused on:

  • Understanding the pathophysiologic mechanisms involved in AHO
  • Improving both bone density and muscle mass for OI patients
  • Translating the promising results of her investigations into therapies to improve the health and quality of life of AHO and OI patients

Discovering New Treatments through Research

Connecticut Children’s Center for Rare Bone Disorders is led by Emily Germain-Lee, MD, a world-renowned pediatric endocrinologist specializing in rare bone disorders. In partnership with The Jackson Laboratory and UConn Health, she conducts clinical research focused on:

  • Understanding the pathophysiologic mechanisms involved in AHO
  • Improving both bone density and muscle mass for OI patients
  • Translating the promising results of her investigations into therapies to improve the health and quality of life of AHO and OI patients

Mighty Mice in Space!

In December, Dr. Germain-Lee and distinguished researcher Se-Jin Lee, MD, PhD sent genetically-engineered “Mighty Mice” to the International Space Station to explore the potential that myostatin-inhibitors hold for treating muscle and bone loss. This could benefit everyone from astronauts—helping prevent skeletal muscle and bone loss during spaceflight and enhance recovery following their return to Earth—to people who are suffering from muscle atrophy and bone degeneration-related conditions.

Learn More about the Mighty Mice

Mighty Mice in Space!

In December, Dr. Germain-Lee and distinguished researcher Se-Jin Lee, MD, PhD sent genetically-engineered “Mighty Mice” to the International Space Station to explore the potential that myostatin-inhibitors hold for treating muscle and bone loss. This could benefit everyone from astronauts—helping prevent skeletal muscle and bone loss during spaceflight and enhance recovery following their return to Earth—to people who are suffering from muscle atrophy and bone degeneration-related conditions.

Learn More about the Mighty Mice

Meet Dr. Germain-Lee

Learn more about Dr. Germain-Lee and why she chose to pursue a career specializing in rare bone disorders.

Learn More

Simon’s Story

After 15 years and multiple misdiagnoses, Simon’s mom finally found the right doctor and a medical “home” for his rare bone disorder.

Read Simon's Story

Dillon & Ellie’s Story

Dillon and Ellie’s parents travel to Connecticut from Virginia to see Dr. Germain-Lee, who specializes in pseudohypoparathyroidism type 1A.

Watch Dillon & Ellie's Story

Q&A with Dr. Germain-Lee

We sat down with Dr. Germain-Lee to discuss her advances in the treatment and research of rare bone and endocrine disorders.

Read the Q&A

Our Centers

Osteogenesis Imperfecta

Our center for Osteogenesis Imperfecta (OI), or brittle bone disease, is recognized by the Osteogenesis Imperfecta Foundation and is a premier site in New England and the Mid-Atlantic for evaluating and managing patients with OI. The center is led by Dr. Germain-Lee and pediatric endocrinologist Nancy Dunbar, MD, MPH.

Albright Hereditary Osteodystrophy

Our Center for Rare Bone Disorders is home to the Albright Center, the first and only center in the world dedicated to AHO. Because she follows the largest population of AHO patients worldwide, Dr. Germain-Lee can often identify and address underlying issues common to AHO patients before they progress, improving patients’ long-term health and quality of life.

Our Centers

Osteogenesis Imperfecta

Our center for Osteogenesis Imperfecta (OI), or brittle bone disease, is recognized by the Osteogenesis Imperfecta Foundation and is a premier site in New England and the Mid-Atlantic for evaluating and managing patients with OI. The center is led by Dr. Germain-Lee and pediatric endocrinologist Nancy Dunbar, MD, MPH.

Albright Hereditary Osteodystrophy

Our Center for Rare Bone Disorders is home to the Albright Center, the first and only center in the world dedicated to AHO. Because she follows the largest population of AHO patients worldwide, Dr. Germain-Lee can often identify and address underlying issues common to AHO patients before they progress, improving patients’ long-term health and quality of life.

Our Pediatric Rare Bone Disorders Specialists

Dr. Germain-Lee headshot
Emily Germain-Lee, MD
Division Head, Endocrinology & Diabetes
Nancy Dunbar, MD, a pediatric endocrinologist at Connecticut Children's
Nancy Street Dunbar, MD, MPH
Diabetes & Endocrinology

Request an Appointment

Whether you need a diagnosis, a second opinion, or advanced treatment, our pediatric endocrinologists can help. Complete this form, and we will contact you within one business day.

All fields Required

Rare Bone Disorders
Patient Name
Patient Name
Patient
Patient
Patient
Patient
Parent/Guardian Name
Parent/Guardian Name
Parent/Guardian
Parent/Guardian
Parent/Guardian
Parent/Guardian