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Children with rare diseases face unique challenges. It can be difficult to receive the right diagnosis, and even when a diagnosis is confirmed, treatments may not exist or be widely available.
At Connecticut Children’s, our world-renowned clinicians and researchers are actively developing cutting-edge treatments and working toward finding cures. From creating novel therapies for patients who previously had no other options, to establishing one-of-a-kind treatment clinics, Connecticut Children’s rare disease experts are collaborating with researchers globally, innovating here at home and doing whatever it takes to find answers for children with rare diseases.
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.
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.
– Emily Germain-Lee, MD
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
Connecticut Children’s Division of Neurology provides comprehensive diagnostic evaluation and cutting-edge treatments for children and adolescents with rare neurological disorders.
-Gyula Acsadi, MD, PhD
Connecticut Children’s Center for Cancer & Blood Disorders provides access to novel therapies and clinical trials for both rare and common forms of childhood cancer. Our nationally-known researchers are pushing the boundaries for developing personalized treatment plans based on whole genome analysis of tumors. Research partners include: