Steve is a Senior Advisor to the Director, NCATS at NIH. He helped establish the Office of Orphan Products Development at FDA in 1982, the rare diseases initiative at NIH in 1989, Director of the Office of Rare Diseases Research from 1993-2014. His major focus has been on stimulating 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 patient advocacy groups. He has co-authored numerous journal articles, book chapters on Rare Diseases Epidemiology.
Areas of expertise: Internal Medicine. Rare disease. Clinical Epidemiology. HTA. Rational Use of Medicines. Pharmacovigilance. She is a member of the ISPOR Rare Diseases special interest group. Dr. Vinhas de Souza is a MD, with Master of Science in Clinical Epidemiology at NIHES-Erasmus University (NL) and PhD in Medicine-area: HTA and rare diseases- UFRGS (BR). She acts as Consultant to the Brazilian National Commission for Incorporation of Health
Technologies (CONITEC): medicines, rare diseases and HTA.
She is a Researcher at the Clinical Genetics HTA Group and Collaborates with the Exceptional Medicines Commission (COMEX), both at the Hospital de Clínicas de Porto Alegre/HCPA/Brazil.
Also, at HCPA, she works at the 'Drugs and Therapeutics Committee' and at the 'HCPA Research Committee and Ethics in Research Committee'.
Formerly she was a Scientific Administrator at European Medicines Agency/EMA in London, UK (risk management and safety: areas oncology, haematology and autoimmune diseases).
