Identifying the Genes involved in the Skeletal Dysplasias and Developing New Therapies to Improve Patient Care
We work with families, physicians, and researchers from around the world to classify skeletal disorders radiographically, histologically, and genetically.
Understanding the genetic defect and biological pathways involved in specific skeletal disorders is assisting in the development of diagnoses, treatments, and improved patient care.
Who is eligible?
Any individual who has been diagnosed with a skeletal dysplasia may be enrolled in the Registry. Parents and siblings of an affected individual are strongly encouraged to participate. If there is a family history of the condition, affected and unaffected members of the extended family are also welcome to enroll.
The International Skeletal Dysplasia Registry (ISDR), which has moved from Cedars-Sinai to UCLA, is a long-term research project that was established in 1970 to assist in the diagnosis, management, and etiology of the skeletal dysplasias.
Your gift to support the ISDR allows us to continue to offer this service and perform the research necessary to enhance our ability to diagnose and treat the many forms of skeletal dysplasia.