February 28, 2011
NIH Office of Rare Diseases Research; NIH Clinical Center; NIH Institutes and Centers, including the NICHD; Health Resources and Services Administration; Food & Drug Administration Office of Orphan Product Development; National Organization for Rare Disorders; Genetic Alliance
NIH Main Campus, Lipsett Amphitheater, Clinical Center/Building 10, Bethesda, Maryland
Rare Disease Day was established to raise awareness about rare diseases, the challenges encountered by those affected, the importance of research to develop diagnostics and treatments, and the impact of these diseases on patients' lives.
There are about 7,000 rare diseases identified in the United States. About 80% of rare diseases are genetic in origin, and about 75% affect children. Rare diseases can be chronic, progressive, debilitating, disabling, severe and life-threatening. Information is often scarce and research is usually insufficient.
Since 2003, the NICHD Intellectual and Developmental Disabilities (IDD) Branch has provided scientific management for two Centers within the NIH’s Rare Diseases Cooperative Disorders Consortia. The IDD Branch manages the Urea Cycle Disorders Rare Disease Consortium and the Consortium for Rare Epigenetic Disorders.
The overall goal of the day is to help ensure that rare disease patients can obtain the highest attainable standard of health and receive the resources required to overcome common obstacles in their lives.
For contact information, a tentative agenda, registration, and other information, please visit http://rarediseases.info.nih.gov/RareDiseaseDay.aspx.