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Rare Diseases

Creating Breakthroughs for Rare Diseases through Research

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.

  • An estimated 30 million Americans—roughly one in 10—have a rare disease, according to the National Institutes of Health (NIH). Approximately 50 percent of those of are children.
  • Of the nearly 7,000 rare diseases known to exist, less than 500—roughly five percent—have a known treatment approved by the U.S. Food and Drug Administration (FDA).

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.

Rare conditions we treat include:

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.

From Bedside to Bench, and Back Again

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.

From Bedside to Bench, and Back Again

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 >

Neurological Disorders

Connecticut Children’s Division of Neurology provides comprehensive diagnostic evaluation and cutting-edge treatments for children and adolescents with rare neurological disorders.

  • Connecticut Children’s Neuromuscular Program is a site for the Muscular Dystrophy Association (MDA) Care Center. The multi-disciplinary team provides the most advanced treatments and clinical trials for Duchenne muscular dystrophy and spinal muscular atrophy (SMA).
  • The Pediatric Charcot-Marie-Tooth (CMT) Center of Excellence at Connecticut Children’s provides comprehensive diagnostic evaluation and treatment of inherited neuropathies. The center is designated as a Clinical Center of Excellence by the Inherited Neuropathy Consortium, which is supported by the NIH Rare Diseases Branch.
  • Connecticut Children’s Neurogenetics Clinic diagnoses and treats infants and children with neurocutaneous disorders, including Neurofibromatosis Types 1 and 2, Tuberous Sclerosis, Sturge Weber Syndrome and Ataxia-Telangiectasia. Our multidisciplinary team of neurologists and geneticists care for children born with genetic disorders that affect brain development and function.

Neurological Disorders

Connecticut Children’s Division of Neurology provides comprehensive diagnostic evaluation and cutting-edge treatments for children and adolescents with rare neurological disorders.

  • Connecticut Children’s Neuromuscular Program is a site for the Muscular Dystrophy Association (MDA) Care Center. The multi-disciplinary team provides the most advanced treatments and clinical trials for Duchenne muscular dystrophy and spinal muscular atrophy (SMA).
  • The Pediatric Charcot-Marie-Tooth (CMT) Center of Excellence at Connecticut Children’s provides comprehensive diagnostic evaluation and treatment of inherited neuropathies. The center is designated as a Clinical Center of Excellence by the Inherited Neuropathy Consortium, which is supported by the NIH Rare Diseases Branch.
  • Connecticut Children’s Neurogenetics Clinic diagnoses and treats infants and children with neurocutaneous disorders, including Neurofibromatosis Types 1 and 2, Tuberous Sclerosis, Sturge Weber Syndrome and Ataxia-Telangiectasia. Our multidisciplinary team of neurologists and geneticists care for children born with genetic disorders that affect brain development and function.
“Research is crucial to understanding rare disease. When you understand the disease, you then have the knowledge to design treatments for the disease.”

-Gyula Acsadi, MD, PhD

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“Research is crucial to understanding rare disease. When you understand the disease, you then have the knowledge to design treatments for the disease.”

-Gyula Acsadi, MD, PhD

LEARN MORE >

Cancer & Blood Disorders

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:

  • Jackson Laboratory (JAX) – Connecticut Children’s is working with JAX to better understand and develop targeted therapies for pediatric brain and bone cancers
  • Children’s Oncology Group – As a member of this international consortium, Connecticut Children’s provides access to the latest innovations in clinical therapy
  • Beat Childhood Cancer Consortium – Connecticut Children’s collaborates with over 40 hospitals throughout the U.S. to bring novel therapies to children with cancer
  • The National Pediatric Cancer Foundation’s Sunshine Project – Connecticut Children’s collaborates with 22 hospitals throughout the U.S. to bring more targeted treatment to children with cancer
  • University of Connecticut School of Medicine – Connecticut Children’s is the primary teaching hospital for the UConn School of Medicine, collaborating on scientific research to advance medicine

Cancer & Blood Disorders

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:

  • Jackson Laboratory (JAX) – Connecticut Children’s is working with JAX to better understand and develop targeted therapies for pediatric brain and bone cancers
  • Children’s Oncology Group – As a member of this international consortium, Connecticut Children’s provides access to the latest innovations in clinical therapy
  • Beat Childhood Cancer Consortium – Connecticut Children’s collaborates with over 40 hospitals throughout the U.S. to bring novel therapies to children with cancer
  • The National Pediatric Cancer Foundation’s Sunshine Project – Connecticut Children’s collaborates with 22 hospitals throughout the U.S. to bring more targeted treatment to children with cancer
  • University of Connecticut School of Medicine – Connecticut Children’s is the primary teaching hospital for the UConn School of Medicine, collaborating on scientific research to advance medicine

Our Providers

Dr. 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

Dr. Weinstein headshot
David Weinstein, MD, MSc
Director, Glycogen Storage Disease Program
Professor, University of Connecticut School of Medicine