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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
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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 27: Indigenous Genetics and Rare Diseases: Harmony, Diversity and Equity
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About this Attention Score

  • In the top 25% of all research outputs scored by Altmetric
  • Good Attention Score compared to outputs of the same age (78th percentile)
  • High Attention Score compared to outputs of the same age and source (94th percentile)

Mentioned by

blogs
1 blog
twitter
1 tweeter

Citations

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14 Dimensions

Readers on

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51 Mendeley
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Chapter title
Indigenous Genetics and Rare Diseases: Harmony, Diversity and Equity
Chapter number 27
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_27
Pubmed ID
Book ISBNs
978-3-31-967142-0, 978-3-31-967144-4
Authors

Gareth Baynam, Caron Molster, Alicia Bauskis, Emma Kowal, Ravi Savarirayan, Margaret Kelaher, Simon Easteal, Libby Massey, Gail Garvey, Jack Goldblatt, Nicholas Pachter, Tarun S. Weeramanthri, Hugh J. S. Dawkins

Abstract

Advances in our understanding of genetic and rare diseases are changing the face of healthcare. Crucially, the global community must implement these advances equitably to reduce health disparities, including between Indigenous and non-Indigenous peoples. We take an Australian perspective to illustrate some key areas that are fundamental to the equitable translation of new knowledge for the improved diagnosis of genetic and rare diseases for Indigenous people. Specifically, we focus on inequalities in access to clinical genetics services and the lack of genetic and phenomic reference data to inform diagnoses. We provide examples of ways in which these inequities are being addressed through Australian partnerships to support a harmonious and inclusive approach to ensure that benefits from traditional wisdom, community knowledge and shared experiences are interwoven to support and inform implementation of new knowledge from genomics and precision public health. This will serve to deliver benefits to all of our diverse citizens, including Indigenous populations.

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 51 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 51 100%

Demographic breakdown

Readers by professional status Count As %
Student > Master 9 18%
Student > Bachelor 6 12%
Other 5 10%
Researcher 5 10%
Professor 4 8%
Other 8 16%
Unknown 14 27%
Readers by discipline Count As %
Biochemistry, Genetics and Molecular Biology 9 18%
Medicine and Dentistry 9 18%
Psychology 4 8%
Nursing and Health Professions 4 8%
Agricultural and Biological Sciences 3 6%
Other 7 14%
Unknown 15 29%

Attention Score in Context

This research output has an Altmetric Attention Score of 8. 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 26 February 2020.
All research outputs
#2,888,515
of 17,067,437 outputs
Outputs from Advances in experimental medicine and biology
#426
of 3,845 outputs
Outputs of similar age
#87,575
of 416,264 outputs
Outputs of similar age from Advances in experimental medicine and biology
#15
of 298 outputs
Altmetric has tracked 17,067,437 research outputs across all sources so far. Compared to these this one has done well and is in the 82nd percentile: it's in the top 25% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 3,845 research outputs from this source. They typically receive a little more attention than average, with a mean Attention Score of 5.3. This one has done well, scoring higher than 88% 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 416,264 tracked outputs that were published within six weeks on either side of this one in any source. This one has done well, scoring higher than 78% of its contemporaries.
We're also able to compare this research output to 298 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 94% of its contemporaries.