Connecticut Children’s Center for Rare Bone Disorders specializes in treating and finding causes of rare bone diseases. The center is headed by globally recognized endocrinologist and researcher Emily Germain-Lee, MD, who is actively developing new therapies to treat these diseases.

Conditions We Treat

Connecticut Children’s Center for Rare Bone Disorders treats 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

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 Albright hereditary osteodystrophy (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.

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.

Discovering New Treatments Through Research

In addition to providing world-class care for rare bone diseases, our Center for Rare Bone Disorders is committed to discovering the causes of rare bone diseases and using those findings to create new therapies.

Dr. Germain-Lee conducts clinical research focused on patients as well as laboratory investigations on her mouse model of AHO in order to understand the pathophysiologic mechanisms involved in AHO, with the goal of developing and testing new treatments.

Dr. Germain-Lee is also focusing on improving both bone density and muscle mass for OI patients through innovative translational research programs that include both clinical research studies and basic science work using mouse models of OI.

A recent project for which Dr. Germain-Lee is a collaborator with Dr. Se-Jin Lee (principal investigator, The Jackson Laboratory/UConn Health) and others, involved sending mice to the International Space Station (ISS) on SpaceX-19 in order to test the effects of an experimental molecule on preventing the muscle and bone loss that is known to occur in astronauts during space travel. This is very similar to the muscle and bone loss that occurs in any children or adults who are wheelchair-bound or bedridden from illness or during aging. New therapeutic strategies, based on this research, have the potential to help patients with bone fragility. This molecule has been shown by Dr. Germain-Lee and her collaborators to be successful in increasing bone and muscle mass in a mouse model of osteogenesis imperfecta.

She is working to translate the promising results of her investigations into therapies to improve the health and quality of life of AHO and OI patients.

Dr. Germain-Lee is on the Scientific Advisory Panel of the Rare Bone Disease Alliance and recently collaborated with nearly 40 global researchers on the first international Consensus Statement on the diagnosis and management of pseudohypoparathyroidism and related disorders published in Nature Reviews Endocrinology. A recent publication by Dr. Germain-Lee from 2019 on the management of pseudohypoparathyroidism/AHO can be found here.