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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 20: A Global Approach to Rare Diseases Research and Orphan Products Development: The International Rare Diseases Research Consortium (IRDiRC)
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  • Above-average Attention Score compared to outputs of the same age and source (57th percentile)

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Chapter title
A Global Approach to Rare Diseases Research and Orphan Products Development: The International Rare Diseases Research Consortium (IRDiRC)
Chapter number 20
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_20
Pubmed ID
Book ISBNs
978-3-31-967142-0, 978-3-31-967144-4
Authors

Christine M. Cutillo, Christopher P. Austin, Stephen C. Groft, Cutillo, Christine M., Austin, Christopher P., Groft, Stephen C.

Abstract

Rare diseases present unique challenges to researchers due to the global distribution of patients, complexity and low prevalence of each disease, and limited availability of data. They are also overwhelming and costly for patients, their families, communities, and society. As such, global integration of rare diseases research is necessary to accelerate the understanding, diagnosis, and treatment of rare disorders. The International Rare Diseases Research Consortium (IRDiRC) was born out of that need for a coordinated international community. IRDiRC was launched in 2011 to facilitate cooperation and collaboration on a global scale among the many stakeholders active in rare diseases research to stimulate better coordination, and thereby maximize output of rare diseases research efforts around the world. Members include funders, academic researchers, companies, and patient advocacy organizations all of whom share the common goals and principles of IRDiRC. The overarching objectives of the Consortium are to contribute to the development of 200 new therapies and a means to diagnose most rare diseases, by 2020. As IRDiRC approaches the end of its fifth year, these initial objectives have been largely achieved and new partners from across the globe are joining. This presents the Consortium with the exciting opportunity to set new and even more ambitious goals for the next phase with the ultimate goal of improved health through faster and better diagnostic capabilities and novel therapies for people living with rare diseases and conditions throughout the world.

Twitter Demographics

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

Mendeley readers

The data shown below were compiled from readership statistics for 15 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 15 100%

Demographic breakdown

Readers by professional status Count As %
Student > Ph. D. Student 4 27%
Student > Bachelor 3 20%
Researcher 3 20%
Professor 1 7%
Student > Doctoral Student 1 7%
Other 0 0%
Unknown 3 20%
Readers by discipline Count As %
Biochemistry, Genetics and Molecular Biology 6 40%
Immunology and Microbiology 1 7%
Pharmacology, Toxicology and Pharmaceutical Science 1 7%
Psychology 1 7%
Decision Sciences 1 7%
Other 1 7%
Unknown 4 27%

Attention Score in Context

This research output has an Altmetric Attention Score of 1. 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 28 February 2020.
All research outputs
#10,017,817
of 15,728,426 outputs
Outputs from Advances in experimental medicine and biology
#1,586
of 3,608 outputs
Outputs of similar age
#232,744
of 408,996 outputs
Outputs of similar age from Advances in experimental medicine and biology
#102
of 294 outputs
Altmetric has tracked 15,728,426 research outputs across all sources so far. This one is in the 23rd percentile – i.e., 23% of other outputs scored the same or lower than it.
So far Altmetric has tracked 3,608 research outputs from this source. They typically receive a little more attention than average, with a mean Attention Score of 6.1. This one is in the 47th percentile – i.e., 47% of its peers scored the same or lower than it.
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 408,996 tracked outputs that were published within six weeks on either side of this one in any source. This one is in the 33rd percentile – i.e., 33% of its contemporaries scored the same or lower than it.
We're also able to compare this research output to 294 others from the same source and published within six weeks on either side of this one. This one has gotten more attention than average, scoring higher than 57% of its contemporaries.