Rare Diseases Epidemiology

1. Front Matter

   Pages i-xxii

   PDF

2. Rare Diseases

   1. Front Matter

      Pages 1-1

      PDF

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

      • Stephen C. Groft, Manuel Posada de la Paz

      Pages 3-14

3. Methods and Approaches

   1. Front Matter

      Pages 15-15

      PDF

   2. Rare Diseases Epidemiology Research

      • Manuel Posada de la Paz, Ana Villaverde-Hueso, Verónica Alonso, Sándor János, Óscar Zurriaga, Marina Pollán et al.

      Pages 17-39

   3. Evidence-Based Medicine and Rare Diseases

      • Simon Day

      Pages 41-53

   4. Prevention, Diagnosis and Services

      • Eva Bermejo, María Luisa Martínez-Frías

      Pages 55-75

   5. The Importance of Case Reports in Advancing Scientific Knowledge of Rare Diseases

      • John C. Carey

      Pages 77-86

   6. Patient Registries: Utility, Validity and Inference

      • Rachel Richesson, Kendra Vehik

      Pages 87-104

   7. Biobanking in Rare Disorders

      • Hanns Lochmüller, Peter Schneiderat

      Pages 105-113

   8. Evaluation of the Validity and Utility of Genetic Testing for Rare Diseases

      • Scott D. Grosse, Lisa Kalman, Muin J. Khoury

      Pages 115-131

   9. Population-Based Surveillance for Rare Congenital and Inherited Disorders: Models and Challenges

      • Jodi M. Jackson, Krista S. Crider, Richard S. Olney

      Pages 133-150

   10. Statistical Methods for the Geographical Analysis of Rare Diseases

       • Virgilio Gómez-Rubio, Antonio López-Quílez

       Pages 151-171

   11. Clinical Trials and Rare Diseases

       • Joachim Werner Otto Gerß, Wolfgang Köpcke

       Pages 173-190

4. Pharmacoepidemiology

   1. Front Matter

      Pages 191-191

      PDF

   2. A Regulatory Overview About Rare Diseases

      • Jordi Llinares

      Pages 193-207

5. Economics and Social Epidemiology

   1. Front Matter

      Pages 209-209

      PDF

   2. Economic Considerations in the Provision of Treatments for Rare Diseases

      • Christopher McCabe, Richard Edlin, Jeff Round

      Pages 211-222

   3. Rare Diseases Social Epidemiology: Analysis of Inequalities

      • Anna Kole, François Faurisson

      Pages 223-250

   4. Quality of Life and Rare Diseases

      • Luis Rajmil, Lilisbeth Perestelo-Pérez, Michael Herdman

      Pages 251-272

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”.

• Biobank
• Epidemiologic Research
• Health Economics
• Human Genetic
• Orphan Drugs
• Public Health
• Rare Diseases
• cancer
• epidemiological
• epidemiological methods
• epidemiology
• prevention
• public health problem
• 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)

• , 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

Policies and ethics