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Advances in Experimental Medicine and Biology

Rare Diseases Epidemiology: Update and Overview

Editors: Posada, Manuel, Taruscio, Domenica, Groft, Stephen (Eds.)

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  • 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
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eBook $99.00
$189.00 (listprice)
price for USA in USD (gross)
valid through September 30, 2019
  • ISBN 978-3-319-67144-4
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  • Included format: EPUB, PDF
  • ebooks can be used on all reading devices
  • Immediate eBook download after purchase
Hardcover $129.00
$249.99 (listprice)
price for USA in USD
valid through September 30, 2019
  • ISBN 978-3-319-67142-0
  • Free shipping for individuals worldwide
  • Usually dispatched within 3 to 5 business days.
Softcover $129.00
$249.99 (listprice)
price for USA in USD
valid through September 30, 2019
  • ISBN 978-3-319-88385-4
  • Free shipping for individuals worldwide
  • Usually dispatched within 3 to 5 business days.
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.

About the authors

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.

Reviews

“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)

Table of contents (34 chapters)

Table of contents (34 chapters)
  • Rare Diseases: Joining Mainstream Research and Treatment Based on Reliable Epidemiological Data

    Pages 3-21

    Groft, Stephen C. (et al.)

  • Undiagnosed Diseases: Italy-US Collaboration and International Efforts to Tackle Rare and Common Diseases Lacking a Diagnosis

    Pages 25-38

    Taruscio, Domenica (et al.)

  • Intellectual Disability & Rare Disorders: A Diagnostic Challenge

    Pages 39-54

    Kvarnung, Malin (et al.)

  • Improved Diagnosis and Care for Rare Diseases through Implementation of Precision Public Health Framework

    Pages 55-94

    Baynam, Gareth (et al.)

  • Natural History, Trial Readiness and Gene Discovery: Advances in Patient Registries for Neuromuscular Disease

    Pages 97-124

    Thompson, Rachel (et al.)

Buy this book

eBook $99.00
$189.00 (listprice)
price for USA in USD (gross)
valid through September 30, 2019
  • ISBN 978-3-319-67144-4
  • Digitally watermarked, DRM-free
  • Included format: EPUB, PDF
  • ebooks can be used on all reading devices
  • Immediate eBook download after purchase
Hardcover $129.00
$249.99 (listprice)
price for USA in USD
valid through September 30, 2019
  • ISBN 978-3-319-67142-0
  • Free shipping for individuals worldwide
  • Usually dispatched within 3 to 5 business days.
Softcover $129.00
$249.99 (listprice)
price for USA in USD
valid through September 30, 2019
  • ISBN 978-3-319-88385-4
  • Free shipping for individuals worldwide
  • Usually dispatched within 3 to 5 business days.
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Bibliographic Information

Bibliographic Information
Book Title
Rare Diseases Epidemiology: Update and Overview
Editors
  • Manuel Posada
  • Domenica Taruscio
  • Stephen Groft
Series Title
Advances in Experimental Medicine and Biology
Series Volume
1031
Copyright
2017
Publisher
Springer International Publishing
Copyright Holder
Springer International Publishing AG
eBook ISBN
978-3-319-67144-4
DOI
10.1007/978-3-319-67144-4
Hardcover ISBN
978-3-319-67142-0
Softcover ISBN
978-3-319-88385-4
Series ISSN
0065-2598
Edition Number
2
Number of Pages
XXXVI, 667
Number of Illustrations
30 b/w illustrations
Topics