Steve is currently a Senior Advisor to the Director, National Center for Advancing Translational Sciences at NIH. He served as the Director of the Office of Rare Diseases Research (ORDR) in NCATS at the NIH from 1993-2014. His major focus has been on stimulating research with rare diseases and developing information about rare diseases and conditions for health care providers and the public. The ORDR co-sponsored over 1300 rare diseases-related scientific conferences and workshops. Previous activities included the development of (1) common and unique data elements for patient registries for rare diseases, (2) the Genetic and Rare Diseases Information Center (GARD), (3) the International Rare Diseases Research Consortium(IRDiRC) and the International Conference on Rare Diseases and Orphan Drugs (ICORD), (4) the Rare Diseases Clinical Research Network, and assisting in the development of a special emphasis research network with senior clinical staff for patients with undiagnosed diseases at NIH’s Clinical Research Center Hospital and at academic centers in the United States. Current emphasis is on patient engagement in rare diseases research, medical devices in rare diseases, and a major effort to expand the Undiagnosed Diseases Network into an International collaborative effort.
Steve received the Bachelor of Science degree in Pharmacy in 1968 and the Doctor of Pharmacy degree from Duquesne University in 1979.