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Rare Diseases Epidemiology: Update and Overview

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Cover of 'Rare Diseases Epidemiology: Update and Overview'

Table of Contents

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    Book Overview
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    Chapter 1 Rare Diseases: Joining Mainstream Research and Treatment Based on Reliable Epidemiological Data
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    Chapter 2 Undiagnosed Diseases: Italy-US Collaboration and International Efforts to Tackle Rare and Common Diseases Lacking a Diagnosis
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    Chapter 3 Intellectual Disability & Rare Disorders: A Diagnostic Challenge
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    Chapter 4 Improved Diagnosis and Care for Rare Diseases through Implementation of Precision Public Health Framework
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    Chapter 5 Natural History, Trial Readiness and Gene Discovery: Advances in Patient Registries for Neuromuscular Disease
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    Chapter 6 Facilitating Clinical Studies in Rare Diseases
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    Chapter 7 Rare Disease Biospecimens and Patient Registries: Interoperability for Research Promotion, a European Example: EuroBioBank and SpainRDR-BioNER
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    Chapter 8 Data Quality in Rare Diseases Registries
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    Chapter 9 Preparing Data at the Source to Foster Interoperability across Rare Disease Resources
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    Chapter 10 Incentivizing Orphan Product Development: United States Food and Drug Administration Orphan Incentive Programs
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    Chapter 11 Post-approval Studies for Rare Disease Treatments and Orphan Drugs
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    Chapter 12 Evidence-Based Medicine and Rare Diseases
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    Chapter 13 Health Technology Assessment and Appraisal of Therapies for Rare Diseases
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    Chapter 14 New Therapeutic Uses for Existing Drugs
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    Chapter 15 Patient Empowerment and Involvement in Research
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    Chapter 16 Cost-Effectiveness Methods and Newborn Screening Assessment
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    Chapter 17 Cost-of-Illness in Rare Diseases
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    Chapter 18 Primary Prevention of Congenital Anomalies: Special Focus on Environmental Chemicals and other Toxicants, Maternal Health and Health Services and Infectious Diseases
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    Chapter 19 Newborn Screening: Beyond the Spot
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    Chapter 20 A Global Approach to Rare Diseases Research and Orphan Products Development: The International Rare Diseases Research Consortium (IRDiRC)
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    Chapter 21 Prospects of Pluripotent and Adult Stem Cells for Rare Diseases
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    Chapter 22 Personalized Medicine: What’s in it for Rare Diseases?
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    Chapter 23 Microphysiological Systems (Tissue Chips) and their Utility for Rare Disease Research
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    Chapter 24 Epidemiology of Rare Lung Diseases: The Challenges and Opportunities to Improve Research and Knowledge
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    Chapter 25 Rare Neurodegenerative Diseases: Clinical and Genetic Update
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    Chapter 26 Immunological Rare Diseases
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    Chapter 27 Indigenous Genetics and Rare Diseases: Harmony, Diversity and Equity
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    Chapter 28 Mortality Statistics and their Contribution to Improving the Knowledge of Rare Diseases Epidemiology: The Example of Hereditary Ataxia in Europe
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    Chapter 29 Congenital Anomalies: Cluster Detection and Investigation
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    Chapter 30 The European Union Policy in the Field of Rare Diseases
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    Chapter 31 The Role of Solidarity(-ies) in Rare Diseases Research
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    Chapter 32 Bridging the Gap between Health and Social Care for Rare Diseases: Key Issues and Innovative Solutions
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    Chapter 33 Health Systems Sustainability and Rare Diseases
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    Chapter 34 Preparing for the Future of Rare Diseases
Attention for Chapter 30: The European Union Policy in the Field of Rare Diseases
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Chapter title
The European Union Policy in the Field of Rare Diseases
Chapter number 30
Book title
Rare Diseases Epidemiology: Update and Overview
Published in
Advances in experimental medicine and biology, January 2017
DOI 10.1007/978-3-319-67144-4_30
Pubmed ID
Book ISBNs
978-3-31-967142-0, 978-3-31-967144-4
Authors

Antoni Montserrat Moliner, Jaroslaw Waligora

Abstract

Rare diseases, are defined by the European Union as life-threatening or chronically debilitating diseases with low prevalence (less than 5 per 10,000). The specificities of rare diseases - limited number of patients and scarcity of relevant knowledge and expertise - single them out as a unique domain of very high European added-value.The legal instruments at the disposal of the European Union, in terms of the Article 168 of the Treaties, are very limited. However a combination of instruments using the research and the pharmaceutical legal basis and an intensive and creative use of funding from the Health Programmes has permitted to create a solid basis that Member States have considered enough to put rare diseases in a privileged position in the health agenda.The adoption of the Commission Communication, in November 2008, and of the Council Recommendation, in June 2009, and in 2011 the adoption of the Directive on Cross-border healthcare., have created an operational framework to act in the field of rare disease with European coordination in several areas (classification and codification, European Reference Networks, orphan medicinal products, the Commission expert group on rare diseases, etc.).Rare diseases is an area with high and practical potential for the European cooperation.

Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 109 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 109 100%

Demographic breakdown

Readers by professional status Count As %
Researcher 13 12%
Student > Master 13 12%
Student > Bachelor 10 9%
Student > Ph. D. Student 9 8%
Student > Doctoral Student 7 6%
Other 15 14%
Unknown 42 39%
Readers by discipline Count As %
Medicine and Dentistry 24 22%
Biochemistry, Genetics and Molecular Biology 11 10%
Pharmacology, Toxicology and Pharmaceutical Science 10 9%
Social Sciences 8 7%
Agricultural and Biological Sciences 4 4%
Other 6 6%
Unknown 46 42%