Only voluntary national organization dedicated to helping people cope with the problems associated with osteogenesis imperfecta, a bone disorder characterized by fragile bone that breaks easily. Also known as "brittle bone disease".

Acts as a clearinghouse and referral service for information on rare diseases. Maintains a comprehensive rare disease database, which provides families with information on over 1,100 rare disorders. Its networking program links families with other families who are afflicted with similar disorders. Accumulates and disseminates information about orphan drugs and devices, making known their availability. Advocates the needs of people with rare disorders. Provides disease specific medical reports written in lay language. Also offers a Medication Assistance Program for specific drugs and a medical equipment exchange program. Publishes Orphan Disease Update and Resource Guide . Call for more information.

Provides comprehensive treatment for patients of all ages with Lysomal Storage Diseases, such as Gaucher Disease, Pompe Disease, Fabry Disease, and Mucopolysaccharide Storage Diseases. Provides all the components of care for patients and their families from initial consultation, testing and diagnosis to follow-up and treatment as well as genetic counseling, carrier screening and prenatal diagnosis.

Patients are evaluated by the Divisions of Human Genetics and Cardiology. Referrals to Orthopedic and Ophthalmologic services are coordinated by the genetic counselor, as needed. Patients are seen for medical follow-up and counseling at reqular intervals. The Clinic provides diagnosis, management coordination of medical care, genetic counseling and education.

Provides primary care services and subspecialty services in pediatrics including the following: Adolescent Medicine, Allergy Immunology, Cardiology, Cody Center for Autism and Developmental Disabilities, Critical Care, Developmental and Behavioral, Endocrinology, Gastroenterology, Genetic and Metabolic Disorders, Hematology and Oncology, Pediatric AIDS Center, Infectious Diseases, Neonatal Intensive Care Unit, Nephrology, Pulmonology. Also offers Cystic Fibrosis Center, Children's Kidney Center, Children's Lung, Allergy and Breathing Center, as well as Counseling, Education and Support for Kids.

Certain inherited diseases occur more frequently in a given ethnic or racial group than in the general population. The Jewish Genetic Disease Program provides education, genetic screening, genetic counseling and clinical services for individuals or families commonly affected by these diseases. Fanconi Anemia (Type C), Tay-Sachs Disease, Canavan Diseases, Niemann-Pick Disease, Bloom Syndrome,Mucolipodosis (Type lV), Gaucher Disease (Type l), Familial Dysautonomia and Cystic Fibrosis are among the many genetic diseases that have been tested.

Science center devoted entirely to genetics education and operates center for molecular genetic research. Offers field trips, student summer day camps, education workshops, teacher training and fellowships, school district membership programs and opportunities for public education.