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Rare Diseases Epidemiology

  • Book
  • © 2010
  • Latest edition


  • It is the first book edited on Rare Diseases Epidemiology Develops a comprehensive approach to the rare diseases epidemiological problems Teach 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

Part of the book series: Advances in Experimental Medicine and Biology (AEMB, volume 686)

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About this book

In our etiologic research, we epidemiologists need to leave behind the concepts of ‘cohort’ study and ‘case–control’ study and adopt that of the etiologic study as the singular substitute for these. With this sentence, the famous epidemiologist Professor Olli S. Miettinen began his personal re ection on the future of the epidemiology [1]. He sought to highlight the fact that the role of the epidemiologist should be mainly focused on aetiological research. Nevertheless, the widespread idea still exists that epidemiology is limited to purely providing gures and descriptive data on the frequency and distribution of disease. Indeed, it is more than likely that the precise aim of those rst classic epidemiological steps, i. e. , methods essentially based on describing the distri- tion of a given disease, is still not all that well understood by many scientists, let alone the general public. Such descriptions seek to generate hypotheses and afford explanations for key factors (be these risk factors or the presumable causes th- selves), which might justify differences in terms of persons, time or place and, in turn, ultimately serve to develop preventive measures and/or gain quality-adjusted life years. To restrict the goals of epidemiology to activities exclusively concerned with reporting gures or even complex statistical results is a great mistake, one that renders it dif cult to take full advantage of the epidemiologist’s true role, which is “to study disease determinants and to assess the actual impact of factors involved in their development, distribution and dissemination”.


Table of contents (28 chapters)

  1. Rare Diseases

  2. Methods and Approaches

  3. Pharmacoepidemiology

  4. Economics and Social Epidemiology


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)

Editors and Affiliations

  • , Instituto de Investigaciñon en Enfermeda, Instituto de Salud Carlos III, Madrid, Spain

    Manuel Posada de la Paz

  • , Office of Rare Diseases Research, National Institutes of Health, Bethesda, USA

    Stephen C. Groft

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