At Boston Children’s Hospital, we are dedicated to advancing the understanding and treatment of rare diseases. A rare disease affects fewer than 200,000 people. These diseases can be genetic, infectious, or degenerative, and they often present unique challenges in diagnosis and treatment.
About the CRDC
The Boston Children’s Rare Disease Collaborative (CRDC) was established in 2018 as a hospital-wide research effort. It includes 57 rare disease studies and features the Manton Center for Orphan Disease Research.
The CRDC’s mission is to:
- Find and understand genetic causes of rare diseases.
- Facilitate research-informed care.
- Provide families with genetic diagnoses that enable personalized treatments, including precision medicine and targeted therapies.
Pediatric Rare Disease Summit - Bridging Science & Care
Date: April 29, 2025, 8:45 am - 6 pm
Location: Merck Research Laboratories located at 33 Avenue Louis Pasteur, Boston, Massachusetts
This one day summit at BCH provides an opportunity for patients and families to learn about the scope and breadth of research-informed care at BCH, including inspiring stories of diagnosis to treatment.
Rare diseases we study
Some patients may find that their rare disease does not fit into one specific area. Other patients may have ultra-rare diseases, which affect fewer than one person for every 50,000 people.
Below is a list of rare diseases studied by the CRDC, categorized by medical specialty.
Other rare diseases
Cancer and blood disorders
- Anemias and Iron Disorders
- Bone Marrow Failure, Myelodysplastic Syndrome, and Leukemia Predisposition
- Diamond-Blackfan Anemia
- Sickle Cell Anemia
Endocrinology
- Atypical Diabetes
- Differences of Sex Development and Severe Hypospadias
- Ehlers-Danlos Syndrome
- Idiopathic Short Stature
- Osteogenesis Imperfecta
- Precocious Puberty
- Transplant and Therapy
Gastroenterology, hepatology and nutrition
Immunology
- Genetic Susceptibility to Critical Illness from Acute Infections
- Graves Disease
- Immunodeficiencies, Autoimmunity, and Immune Dysregulation
- Invasive Bacterial Infections
Nephrology
- Chronic Kidney Disease
- Nephrotic Syndrome and Glomerular Disease
- Urinary Tract Stone Disease
Neurology
- Agenesis of the Corpus Callosum
- Brain Malformations
- Cerebral Palsy
- Cerebrovascular Disorders
- Chronic Pain and Insensitivity to Pain
- Congenital Heart Disease and Neurodevelopmental Disorders
- Cornelia de Lange Syndrome
- Hereditary Spastic Paraplegia and Movement Disorders
- Hyperkinetic Disorders
- Infantile Epilepsy
- Myopathies and Dystrophies
- Neuroinflammatory Disease
- Social and Cognitive Functioning Disorders
- Unexplained Epilepsies
Newborn medicine
- Complex Fetal Anomalies
- Neonatal Intensive Care Unit (NICU)
- Sudden Unexpected Death in Childhood (SUDP/SIDS)
Ophthalmology
Otolaryngology
Plastic and oral surgery
Psychiatry
Pulmonary medicine
Urology
- Bladder Exstrophy-Epispadias Complex
- Disorders of Voiding
- Interstitial Cystitis