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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

  1. Altmetric Badge
    Book Overview
  2. Altmetric Badge
    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 22: Personalized Medicine: What’s in it for Rare Diseases?
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About this Attention Score

  • In the top 25% of all research outputs scored by Altmetric
  • High Attention Score compared to outputs of the same age (92nd percentile)
  • High Attention Score compared to outputs of the same age and source (96th percentile)

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2 news outlets
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Citations

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Chapter title
Personalized Medicine: What’s in it for Rare Diseases?
Chapter number 22
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_22
Pubmed ID
Book ISBNs
978-3-31-967142-0, 978-3-31-967144-4
Authors

Sebastian Schee genannt Halfmann, Laura Mählmann, Lada Leyens, Matthias Reumann, Angela Brand, Schee genannt Halfmann, Sebastian, Mählmann, Laura, Leyens, Lada, Reumann, Matthias, Brand, Angela

Abstract

Personalised Medicine has become a reality over the last years. The emergence of 'omics' and big data has started revolutionizing healthcare. New 'omics' technologies lead to a better molecular characterization of diseases and a new understanding of the complexity of diseases. The approach of PM is already successfully applied in different healthcare areas such as oncology, cardiology, nutrition and for rare diseases. However, health systems across the EU are often still promoting the 'one-size fits all' approach, even if it is known that patients do greatly vary in their molecular characteristics and response to drugs and other interventions. To make use of the full potentials of PM in the next years ahead several challenges need to be addressed such as the integration of big data, patient empowerment, translation of basic to clinical research, bringing the innovation to the market and shaping sustainable healthcare systems.

X Demographics

X Demographics

The data shown below were collected from the profile of 1 X user who shared this research output. Click here to find out more about how the information was compiled.
Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 82 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 82 100%

Demographic breakdown

Readers by professional status Count As %
Researcher 13 16%
Student > Bachelor 9 11%
Student > Ph. D. Student 8 10%
Student > Master 7 9%
Student > Doctoral Student 6 7%
Other 13 16%
Unknown 26 32%
Readers by discipline Count As %
Biochemistry, Genetics and Molecular Biology 12 15%
Pharmacology, Toxicology and Pharmaceutical Science 9 11%
Medicine and Dentistry 9 11%
Business, Management and Accounting 7 9%
Computer Science 6 7%
Other 15 18%
Unknown 24 29%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 22. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 11 February 2021.
All research outputs
#1,484,824
of 23,011,300 outputs
Outputs from Advances in experimental medicine and biology
#181
of 4,960 outputs
Outputs of similar age
#33,149
of 421,287 outputs
Outputs of similar age from Advances in experimental medicine and biology
#19
of 490 outputs
Altmetric has tracked 23,011,300 research outputs across all sources so far. Compared to these this one has done particularly well and is in the 93rd percentile: it's in the top 10% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 4,960 research outputs from this source. They typically receive a little more attention than average, with a mean Attention Score of 6.1. This one has done particularly well, scoring higher than 96% of its peers.
Older research outputs will score higher simply because they've had more time to accumulate mentions. To account for age we can compare this Altmetric Attention Score to the 421,287 tracked outputs that were published within six weeks on either side of this one in any source. This one has done particularly well, scoring higher than 92% of its contemporaries.
We're also able to compare this research output to 490 others from the same source and published within six weeks on either side of this one. This one has done particularly well, scoring higher than 96% of its contemporaries.