NIH/NCATS/Division of Rare Diseases Research Innovation

The Office of Rare Disease Research was established in 1993 within the Office of the Director (OD), National Institutes of Health (NIH), to respond to the reporting requirements on the Orphan Drug Act; to implement the recommendations of the National Commission on Orphan Diseases; and to respond to requests for information on rare diseases. In April 2022 the office was congressionally transitioned to the Division of Rare Diseases Research Innovation (DRDRI) within the National Center for Advancing Translational Sciences (NCATS) part of the National Institutes of Health (NIH). The Division of Rare Diseases Research Innovation aims to advance rare diseases research to benefit patients. The Division also stimulates rare disease research by supporting scientific workshops and symposia to identify such research opportunities; responds to requests for information on highly technical matters and matters of public policy relative to rare diseases and orphan products; provides information to the Office of the Director, NIH, on matters relating to rare diseases and orphan products; coordinates and serves as a liaison with Federal and non-Federal national and international organizations concerned with rare disease research and orphan products development; and prepares the NIH Director’s annual report to Congress on rare disease and condition research activities sponsored by NIH. The Director of DRDRI is the Principal Advisor to the Director of NIH on rare disease research matters. DRDRI also supports and manages the Genetic and Rare Diseases (GARD) Information website and call center. The site provides information on rare diseases and conditions; information on how to reduce time of finding a diagnosis; and support services provided by patient organizations. GARD provides links to disease-specific information; to searchable databases that provide information on clinical studies; and to other government and non-government home pages and other voluntary health organizations that provide information and support services.