Rare Diseases Epidemiology: Update and Overview / Advances in Experimental Medicine and Biology Bd.1031 (PDF)

Manuel Posada, MD, PhD (Please expand as you feel appropriate) is a specialist in Internal Medicine and in Public Health and Preventive Medicine. He has considerable expertise in areas such as multivariate analyses, medical statistics and research methodology. In his current position as Director of the Institute of Rare Diseases Research (IIER), Institute of Health Carlos III he leads a broad range of rare diseases activities in Spain in areas such as epidemiological and public health research. Dr. Posada is also the Director of the National Biobank on Rare Diseases (ISCIII) and the National Rare Diseases Registry. Dr. Posada is an Independent expert of the Commission Expert Group of Rare Diseases (CEGRD), European Commission and a member of the Advisory Board of the European Commission Platform Rare Diseases Registration. He is currently the President of the International Conference of Orphan Drugs and Rare Diseases (ICORD)

Domenica Taruscio, M.D., is the Director of the Italian National Centre for Rare Diseases at the Italian National Institute of Health and of the National Rare Diseases Registry. She is a specialist in Histopathology and carried out post-doctoral studies in Human Genetics at Yale University (CT-USA) and in Bioethics. For decades, her efforts have been mainly directed to face the many and complex challenges posed by rare diseases and has addressed them from various facets: from science to society, from experimental research to public health, from training health professionals to the empowerment of patients and their families - having always at heart the quality of life of rare disease patients and of their families.





Stephen C. Groft, Pharm.D. is currently a Senior Advisor to the Director, National Center for Advancing Translational Sciences at the NIH, USA. He assisted in establishing the Office of Orphan Products Development at FDA in 1982 and served as the Director of NIH's Office of Rare Diseases Research

“This second edition provides an update on the rapidly evolving field of rare disease research since the 2010 publication of the definitive first edition. … The intended audience is clinicians, epidemiologists, and policymakers, as well as other professionals involved in rare diseases and research. The contributing authors are well versed in areas related to rare disease epidemiology, research, and health policy.” (Victoria L. Crabb, Doody's Book Reviews, October, 2018)