March 14, 2014
Stephen C. Groft, Pharm.D., has been a strong voice for rare disease patients for more than 3 decades. He has now retired from his position at NIH after reinvigorating hope for rare disease patients and their families in US as well as providing them a collective voice. Throughout the 1980s, he has served in a variety of leadership roles to help advance the national research and drug development agendas for rare diseases, beginning with his support of the Orphan Drug Act (ODA) in 1983.
In 1995, Stephen Groft realized that scientists studying rare diseases often do so in isolation and unaware of each other’s work. Recognizing the need for these researchers to collaborate and share knowledge, Groft and other ORDR staff initiated a scientific conferences program with the 27 Institutes and Centers (ICs) at NIH. Since then, more than 1,200 ORDR-supported research conferences and workshops have taken place. In early 2000, he contributed to research protocols to NIH’s ClinicalTrials.gov as well as collaborated with the National Human Genome Research Institute (NHGRI) to establish the Genetic and Rare Diseases Information Center. In 2003 he led ORDR’s efforts in establishing the Rare Diseases Clinical Research Network (RDCRN), which enabled collaborative, trans-NIH clinical research on causes, prevention, outcomes and treatments of rare diseases. By 2008, Stephen Groft, along with NHGRI, the NIH Clinical Center and other NIH ICs, helped create the trans-NIH, multidisciplinary Undiagnosed Diseases Program. He also led ORDR in joining the International Rare Diseases Research Consortium to encourage international collaboration in rare diseases research in 2012.
Stephen Groft has served as an important supporter of the scientific community working with rare disease patient advocates for over 3 decades. His work is a testament to the amount that can be achieved through sheer hard work and persistence, giving patient advocates the encouragement needed to be engaged in advocacy as well as the scientific process.
Stephen Groft has recently authored an editorial in the Orphanet Journal of Rare Diseases, which was published on the occasion of the 7th Rare Disease Day Celebration. The article titled “A past with uncertainty, a future with hope – rare disease day 2014 from a USA perspective”, reflected on the worldwide research accomplishments, orphan product approvals, and the commitments by the rare diseases community. In the editorial, Stephen Groft affirms “that the global rare diseases community remains strong and responsive to the voices and needs of patients, families, and clinicians awaiting diagnosis and treatment for their disease”.