Steve is a Special Volunteer in the Office of Rare Diseases Research, NCATS at NIH. He helped establish the Office of Orphan Products Development at FDA in 1982 and implemented the rare diseases initiative at NIH in 1989. 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), 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 the Enfermedades Raras en América Latina y en el Caribe (ERCAL) initiative to increase awareness and opportunities available for collaboration in the Latin American countries and the Caribbean nations. He continues to serve as a co-chair of the IRDiRC Primary Care Task Force.
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 85 journal articles, book chapters and the co-editor of 2 books on Rare Diseases Epidemiology.