Editors:
- Contributors and Authors with Unique Experiences in Rare Diseases Research and Orphan Products Development
- Contributors include leading patient advocates, foundation leaders, research investigators, regulatory agency decision makers, and bio-pharmaceutical industry leaders
- Multi-National Government Program and Policy Leaders
- Leaders in Global Collaboration Efforts
Part of the book series: Advances in Experimental Medicine and Biology (AEMB, volume 1031)
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Table of contents (34 chapters)
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Front Matter
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Introduction
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Front Matter
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Rare Diseases Diagnosis
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Front Matter
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Registries, Natural History of Rare Diseases and Biobanks
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Front Matter
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Orphan Drugs and Therapies
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Front Matter
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About this book
The fields of rare diseases research and orphan products development continue to expand with more products in research and development status. In recent years, the role of the patient advocacy groups has evolved into a research partner with the academic research community and the bio-pharmaceutical industry. Unique approaches to research and development require epidemiological data not previously available to assist in protocol study design and patient recruitment for clinical trials required by regulatory agencies prior to approval for access by patents and practicing physicians.
Reviews
Editors and Affiliations
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RDR and CIBERER, Instituto de Salud Carlos III, Madrid, Spain
Manuel Posada de la Paz
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Centro Nazionale Malattie Rare, Istituto Superiore di Sanita, Roma, Italy
Domenica Taruscio
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National Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, USA
Stephen C. Groft
About the editors
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 from 1993-2014 stimulating rare diseases research and developing information for patients, health care providers, research investigators, the biopharmaceutical industry, and the public about rare diseases, ongoing and completed research and clinical trials, and patient advocacy groups. Numerous initiatives were established in this role including the establishment of the Genetic and Rare Diseases Information Center, the International Rare Diseases Research Consortium the International Conference on Rare Diseases and Orphan Drugs, the Rare Diseases Clinical Research Network, assisted in the development of the Undiagnosed Diseases Program at NIH and the global Undiagnosed Diseases Network International, and developed common data elements for patient registries. ORDR co-sponsored numerous scientific conferences to assist in identifying research priorities and developing research agendas for the investigation of rare diseases.
Bibliographic Information
Book Title: Rare Diseases Epidemiology: Update and Overview
Editors: Manuel Posada de la Paz, Domenica Taruscio, Stephen C. Groft
Series Title: Advances in Experimental Medicine and Biology
DOI: https://doi.org/10.1007/978-3-319-67144-4
Publisher: Springer Cham
eBook Packages: Biomedical and Life Sciences, Biomedical and Life Sciences (R0)
Copyright Information: This is a U.S. government work and not under copyright protection in the U.S.; foreign copyright protection may apply 2017
Hardcover ISBN: 978-3-319-67142-0Published: 20 December 2017
Softcover ISBN: 978-3-319-88385-4Published: 09 September 2018
eBook ISBN: 978-3-319-67144-4Published: 06 December 2017
Series ISSN: 0065-2598
Series E-ISSN: 2214-8019
Edition Number: 2
Number of Pages: XXXVI, 667
Number of Illustrations: 30 b/w illustrations
Topics: Health Promotion and Disease Prevention, Human Genetics, Epidemiology