Advances in Experimental Medicine and Biology

Rare Diseases Epidemiology

Editors: Posada de la Paz, Manuel, Groft, Stephen C. (Eds.)

  • This is the first edited book on the epidemiology of rare diseases
  • Develops a comprehensive approach to the epidemiological problems of rare diseases
  • Teaches the best knowledge currently available
  • Opens future perspectives for health planning and decision making
  • Provides a general framework for physicians, public health experts and basic researchers
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About this book

'Rare Diseases Epidemiology' offers numerous approaches to increase the knowledge base of rare diseases and conditions and to facilitate the development and dissemination of interventions for the prevention, diagnosis, or treatment of over 6500 diseases and conditions. The goals of epidemiology are not restricted merely to providing numerical data on the prevalence or incidence of diseases in a limited or general population. Analyses of epidemiological data gathered from appropriately designed and conducted studies are required to establish public health policies and priorities in all nations. Information gained from these studies lead to a better understanding of the etiology and the impact of genetic or environmental factors on the occurrence and outcome of these disorders. The term Rare Diseases includes both acquired and inherited disorders. 'Rare Diseases Epidemiology' provides methods and approaches from the collective experiences of established research investigators who address these significant issues of the development of patient registries; the collection, storage and selected distribution of bio-specimens from bio-banking activities; the validation and utilization of genetic testing and newborn screening procedures; the presentation of issues related to the importance of case reports to increase knowledge of rare diseases; the challenges and models for population-based surveillance studies for rare congenital and inherited disorders; the statistical methods for the geographical analyses of rare diseases; the value and need for clinical trials and comparative effective studies; and meeting the requirements of regulatory agencies. Economic, societal, and ethical concerns are presented as patients and families encounter difficulties obtaining the correct diagnosis, gaining access to treatments, and receiving coverage or reimbursement for approved interventions, and for developing a public understanding of the costs to patients and their families and the burden of illness affecting the quality of life of millions of patients with rare diseases and conditions. Framework programs for rare diseases research as developed by the European Union and the value of national plans for individual member countries are discussed and represent the public commitment to patients with rare diseases. Likewise, similar programs have been implemented in the USA as a result of the Orphan Drug Act to address the needs of the rare diseases community.

Reviews

From the reviews:

“It covers the common components of epidemiology and its collaborating disciplines to demonstrate the concepts, methods, and examples of the epidemiology of rare diseases. … it is a useful resource for epidemiologists, the book can be used by other researchers and by funding agencies, foundations, and policy makers. … This is an important state-of-the-art book in rare disease epidemiology. … an extremely important contribution to the field and will be a useful reference in several disciplines.” (James C. Torner, Doody’s Review Service, July, 2011)

“The book is very well written, and deals with its subject delineated above comprehensively. … the amount of information presented is very impressive. The multitude of the data presented in the reviewed work make it indispensable for anyone potentially active in the field of the rare diseases … . this volume will remain the major reference book for quite some time, and highly recommend it to the healthcare planners, general practitioners and those specializing in the field of the rare diseases … .” (K. Pagava and I. Paghava, Georgian Medical News, Vol. 193 (4), 2011)


Table of contents (28 chapters)

  • Rare Diseases – Avoiding Misperceptions and Establishing Realities: The Need for Reliable Epidemiological Data

    Groft, Stephen C. (et al.)

    Pages 3-14

  • Rare Diseases Epidemiology Research

    Paz, Manuel Posada (et al.)

    Pages 17-39

  • Evidence-Based Medicine and Rare Diseases

    Day, Simon

    Pages 41-53

  • Prevention, Diagnosis and Services

    Bermejo, Eva (et al.)

    Pages 55-75

  • The Importance of Case Reports in Advancing Scientific Knowledge of Rare Diseases

    Carey, John C.

    Pages 77-86

Buy this book

eBook n/a
  • ISBN 978-90-481-9485-8
  • Digitally watermarked, DRM-free
  • Included format: EPUB, PDF
  • ebooks can be used on all reading devices
Hardcover n/a
  • ISBN 978-90-481-9484-1
  • Free shipping for individuals worldwide
Softcover n/a
  • ISBN 978-94-007-3338-1
  • Free shipping for individuals worldwide
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Bibliographic Information

Bibliographic Information
Book Title
Rare Diseases Epidemiology
Editors
  • Manuel Posada de la Paz
  • Stephen C. Groft
Series Title
Advances in Experimental Medicine and Biology
Series Volume
686
Copyright
2010
Publisher
Springer Netherlands
Copyright Holder
Springer Science+Business Media B.V.
eBook ISBN
978-90-481-9485-8
DOI
10.1007/978-90-481-9485-8
Hardcover ISBN
978-90-481-9484-1
Softcover ISBN
978-94-007-3338-1
Series ISSN
0065-2598
Edition Number
1
Number of Pages
XXII, 542
Topics