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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 4: Improved Diagnosis and Care for Rare Diseases through Implementation of Precision Public Health Framework
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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 (89th percentile)
  • High Attention Score compared to outputs of the same age and source (93rd percentile)

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Chapter title
Improved Diagnosis and Care for Rare Diseases through Implementation of Precision Public Health Framework
Chapter number 4
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_4
Pubmed ID
Book ISBNs
978-3-31-967142-0, 978-3-31-967144-4
Authors

Gareth Baynam, Faye Bowman, Karla Lister, Caroline E. Walker, Nicholas Pachter, Jack Goldblatt, Kym M. Boycott, William A. Gahl, Kenjiro Kosaki, Takeya Adachi, Ken Ishii, Trinity Mahede, Fiona McKenzie, Sharron Townshend, Jennie Slee, Cathy Kiraly-Borri, Anand Vasudevan, Anne Hawkins, Stephanie Broley, Lyn Schofield, Hedwig Verhoef, Tudor Groza, Andreas Zankl, Peter N. Robinson, Melissa Haendel, Michael Brudno, John S. Mattick, Marcel E. Dinger, Tony Roscioli, Mark J. Cowley, Annie Olry, Marc Hanauer, Fowzan S. Alkuraya, Domenica Taruscio, Manuel Posada de la Paz, Hanns Lochmüller, Kate Bushby, Rachel Thompson, Victoria Hedley, Paul Lasko, Kym Mina, John Beilby, Cynthia Tifft, Mark Davis, Nigel G. Laing, Daria Julkowska, Yann Le Cam, Sharon F. Terry, Petra Kaufmann, Iiro Eerola, Irene Norstedt, Ana Rath, Makoto Suematsu, Stephen C. Groft, Christopher P. Austin, Ruxandra Draghia-Akli, Tarun S. Weeramanthri, Caron Molster, Hugh J. S. Dawkins, Baynam, Gareth, Bowman, Faye, Lister, Karla, Walker, Caroline E., Pachter, Nicholas, Goldblatt, Jack, Boycott, Kym M., Gahl, William A., Kosaki, Kenjiro, Adachi, Takeya, Ishii, Ken, Mahede, Trinity, McKenzie, Fiona, Townshend, Sharron, Slee, Jennie, Kiraly-Borri, Cathy, Vasudevan, Anand, Hawkins, Anne, Broley, Stephanie, Schofield, Lyn, Verhoef, Hedwig, Groza, Tudor, Zankl, Andreas, Robinson, Peter N., Haendel, Melissa, Brudno, Michael, Mattick, John S., Dinger, Marcel E., Roscioli, Tony, Cowley, Mark J., Olry, Annie, Hanauer, Marc, Alkuraya, Fowzan S., Taruscio, Domenica, Posada de la Paz, Manuel, Lochmüller, Hanns, Bushby, Kate, Thompson, Rachel, Hedley, Victoria, Lasko, Paul, Mina, Kym, Beilby, John, Tifft, Cynthia, Davis, Mark, Laing, Nigel G., Julkowska, Daria, Cam, Yann, Terry, Sharon F., Kaufmann, Petra, Eerola, Iiro, Norstedt, Irene, Rath, Ana, Suematsu, Makoto, Groft, Stephen C., Austin, Christopher P., Draghia-Akli, Ruxandra, Weeramanthri, Tarun S., Molster, Caron, Dawkins, Hugh J. S.

Abstract

Public health relies on technologies to produce and analyse data, as well as effectively develop and implement policies and practices. An example is the public health practice of epidemiology, which relies on computational technology to monitor the health status of populations, identify disadvantaged or at risk population groups and thereby inform health policy and priority setting. Critical to achieving health improvements for the underserved population of people living with rare diseases is early diagnosis and best care. In the rare diseases field, the vast majority of diseases are caused by destructive but previously difficult to identify protein-coding gene mutations. The reduction in cost of genetic testing and advances in the clinical use of genome sequencing, data science and imaging are converging to provide more precise understandings of the 'person-time-place' triad. That is: who is affected (people); when the disease is occurring (time); and where the disease is occurring (place). Consequently we are witnessing a paradigm shift in public health policy and practice towards 'precision public health'.Patient and stakeholder engagement has informed the need for a national public health policy framework for rare diseases. The engagement approach in different countries has produced highly comparable outcomes and objectives. Knowledge and experience sharing across the international rare diseases networks and partnerships has informed the development of the Western Australian Rare Diseases Strategic Framework 2015-2018 (RD Framework) and Australian government health briefings on the need for a National plan.The RD Framework is guiding the translation of genomic and other technologies into the Western Australian health system, leading to greater precision in diagnostic pathways and care, and is an example of how a precision public health framework can improve health outcomes for the rare diseases population.Five vignettes are used to illustrate how policy decisions provide the scaffolding for translation of new genomics knowledge, and catalyze transformative change in delivery of clinical services. The vignettes presented here are from an Australian perspective and are not intended to be comprehensive, but rather to provide insights into how a new and emerging 'precision public health' paradigm can improve the experiences of patients living with rare diseases, their caregivers and families.The conclusion is that genomic public health is informed by the individual and family needs, and the population health imperatives of an early and accurate diagnosis; which is the portal to best practice care. Knowledge sharing is critical for public health policy development and improving the lives of people living with rare diseases.

X Demographics

X Demographics

The data shown below were collected from the profiles of 4 X users 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 126 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 126 100%

Demographic breakdown

Readers by professional status Count As %
Student > Master 22 17%
Researcher 13 10%
Student > Ph. D. Student 12 10%
Other 9 7%
Student > Doctoral Student 8 6%
Other 21 17%
Unknown 41 33%
Readers by discipline Count As %
Medicine and Dentistry 31 25%
Biochemistry, Genetics and Molecular Biology 12 10%
Nursing and Health Professions 10 8%
Pharmacology, Toxicology and Pharmaceutical Science 6 5%
Computer Science 5 4%
Other 16 13%
Unknown 46 37%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 15. 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
#2,098,407
of 23,011,300 outputs
Outputs from Advances in experimental medicine and biology
#292
of 4,960 outputs
Outputs of similar age
#45,348
of 421,287 outputs
Outputs of similar age from Advances in experimental medicine and biology
#30
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 90th 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 94% 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 well, scoring higher than 89% 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 93% of its contemporaries.