Rare Diseases Epidemiology: Update and Overview /
| Corporate Author: | |
|---|---|
| Other Authors: | , , |
| Format: | eBook |
| Language: | English |
| Published: |
Cham :
Springer International Publishing : Imprint: Springer,
2017.
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| Edition: | 2nd ed. 2017. |
| Series: | Advances in Experimental Medicine and Biology,
1031 |
| Subjects: |
Table of Contents:
- Part I Introduction
- Rare Diseases: Joining Mainstream Research and Treatment Based on Reliable Epidemiological Data
- Part II Rare diseases diagnosis
- Undiagnosed diseases: Italy-US collaboration and international efforts to tackle rare and common diseases lacking a diagnosis
- Intellectual disability & rare disorders: A diagnostic challenge
- Improved diagnosis and care for rare diseases through implementation of a precision public health framework
- Part III Registries, Natural History of Rare Diseases and Biobanks
- Natural history, trial readiness and gene discovery: advances in patient registries for neuromuscular disease
- Facilitating Clinical Studies in Rare Diseases
- Rare Diseases Biospecimens and patient registries: Interoperability for research promotion, a European example: EuroBioBank and Spain RDR-BioNER
- Data Quality in Rare Diseases Registries
- Preparing data at the source to foster interoperability across r are disease resources
- Part IV Orphan drugs and therapies
- Incentivizing orphan product development: United States Food and Drug Administration orphan incentive programs
- Post-approval Studies for Rare Disease Treatments and Orphan Drugs
- Evidence-Based Medicine and Rare Diseases
- Health technology assessment and appraisal of therapies for rare diseases
- New Therapeutic Uses for Existing Drugs
- Patient empowerment and involvement in research
- Part V Cost-Effectiveness and Cost-of-illness
- Cost-effectiveness methods and newborn screening assessment
- Cost-of-illness in rare diseases
- Part VI Rare Diseases Prevention
- Primary prevention of congenital anomalies: special focus on environmental chemicals and other toxicants, maternal health and health services and infectious diseases
- Newborn Screening: Beyond the Spot
- Part VII New Research Perspectives in RD
- A Global Approach to Rare Diseases Research and Orphan Products Development: The International Rare Diseases Research Consortium (IRDiRC)
- Prospects of Pluripotent and Adult Stem Cells for Rare Diseases
- Personalized Medicine: What's in for Rare Diseases?
- Microphysiological systems (tissue chips) and their utility for rare disease research
- Part VIII Rare Diseases Epidemiology
- Epidemiology of Rare Lung Diseases: The Challenges and Opportunities to Improve Research and Knowledge
- Rare neurodegenerative diseases: clinical and genetic aspects
- Immunological rare diseases
- Indigenous Genetics and Rare Diseases: Harmony, Diversity and Equity
- Mortality Statistics and their Contribution to Improving Rare Diseases Epidemiology: the Example of Hereditary Ataxia in Europe
- Congenital Anomalies: Cluster detection and investigation
- Part IX Rare Diseases policies and society
- The European Union Policy in the Field of Rare Diseases
- The role of solidarity(-ies) in rare diseases research
- Bridging the gap between health and social care for rare diseases: key issues and innovative solutions
- Health systems sustainability and rare diseases
- Preparing for the Future of Rare Diseases
- Index.