Renewal of RDCRN-wide Rare Diseases Research

May 2023 Council

Lead Division/Office


Point(s) of Contact

Cindy Roy

Executive Summary

Rare disease is defined by the Rare Diseases Act of 2002 (Public Law 107-280) as a condition affecting fewer than 200,000 individuals in the United States. Research in rare diseases encounters barriers in the small numbers of expert clinical investigators at great geographic distances from patients, the paucity of reproducible diagnostics, and the unique ethical concerns around patient privacy and engagement of for-profit partners. The Rare Disease Clinical Research Network aims to address these barriers with the development of centers of excellence in the conduct of clinical research in multiple rare diseases; the formation of effective partnerships with patient advocacy groups; the development of novel diagnostics and treatments; and the training of the next generation of rare disease investigators.