Steve helped establish the Office of Orphan Products Development at FDA in 1982 and implemented the rare diseases initiative at NIH in 1989. From 1987-1989, Steve was the
Executive Director of The National Commission on Orphan Diseases. He served as the Director of the NIH Office of Rare Diseases Research (ORDR) from 1993-2014. Activities
included the development of the Genetic and Rare Diseases Information Center (GARD), contributions to Clinical Trials.gov information system provided by NIH’s National
Library of Medicine, the International Rare Diseases Research Consortium (IRDiRC), the International Conference/Collaboration on Rare Diseases and Orphan Products ( ICORD),
the Rare Diseases Clinical Research Network (RDCRN), and assistance with the Undiagnosed Diseases Program and the Undiagnosed Diseases Network International
(UDNI). More recently, he has been instrumental in establishing rare diseases initiatives to increase awareness and opportunities available for collaboration in the Latin American
countries and the Caribbean nations. He continues to serve as a member of the Board of Directors of The Every Life Foundation.
His major focus has been on stimulating global research with rare diseases and orphan products and developing information for patients, families, health care providers, research
investigators, the biopharmaceutical industry, and the public. The emphasis included information about rare diseases, active and completed clinical trials, ongoing research, and
the expanding role of patient advocacy groups as research partners. He has authored numerous journal articles, book chapters and the co-editor of 2 books on Rare Diseases
Epidemiology.
