Table of Contents

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   Book Overview
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   Chapter 1 Rare Diseases – Avoiding Misperceptions and Establishing Realities: The Need for Reliable Epidemiological Data
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   Chapter 2 Rare Diseases Epidemiology Research
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   Chapter 3 Evidence-Based Medicine and Rare Diseases
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   Chapter 4 Prevention, Diagnosis and Services
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   Chapter 5 The Importance of Case Reports in Advancing Scientific Knowledge of Rare Diseases
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   Chapter 6 Patient registries: utility, validity and inference.
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   Chapter 7 Biobanking in Rare Disorders
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   Chapter 8 Evaluation of the validity and utility of genetic testing for rare diseases.
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    Chapter 9 Rare Diseases Epidemiology
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    Chapter 10 Statistical Methods for the Geographical Analysis of Rare Diseases
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    Chapter 11 Clinical Trials and Rare Diseases
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    Chapter 12 A Regulatory Overview About Rare Diseases
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    Chapter 13 Rare Diseases Epidemiology
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    Chapter 14 Rare Diseases Social Epidemiology: Analysis of Inequalities
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    Chapter 15 Quality of Life and Rare Diseases
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    Chapter 16 Cost of illness and economic evaluation in rare diseases
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    Chapter 17 The Burden of Rare Cancers in Europe
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    Chapter 18 Hereditary Channelopathies in Neurology
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    Chapter 19 Osteochondral Diseases and Fibrodysplasia Ossificans Progressiva
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    Chapter 20 The Prevalence of Congenital Anomalies in Europe
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    Chapter 21 Rare Autoimmune Diseases
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    Chapter 22 Epidemiology of Rare Anaemias in Europe
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    Chapter 23 Inherited Metabolic Rare Disease
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    Chapter 24 Rare Diseases Epidemiology
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    Chapter 25 Creating a European Union Framework for Actions in the Field of Rare Diseases
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    Chapter 26 National Plans and Strategies on Rare Diseases in Europe
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    Chapter 27 Ethical Aspects on Rare Diseases
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    Chapter 28 Advocacy Groups and Their Role in Rare Diseases Research