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Rare Diseases in the Age of Health 2.0

  • Book
  • © 2014

Overview

Editors:
  1. Rajeev K. Bali

    1. Health Design and Technology Institute, Coventry University, Coventry, United Kingdom

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  2. Lodewijk Bos

    1. International Council on Medical & Care Compunetics (ICMCC), Utrecht, The Netherlands

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    You can also search for this editor in PubMed   Google Scholar

  3. Michael Christopher Gibbons

    1. Johns Hopkins Urban Health Institute, Baltimore, USA

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  4. Simon Ibell

    1. iBellieve Foundation, Toronto, Canada

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  • Focuses on various factors associated with orphan diseases
  • Highlights the opportunities and challenges through information technologies and Health 2.0
  • Explores economic possibilities
  • Written by an international authorship with experience and competencies in the key areas of patient empowerment, healthcare and clinical knowledge management, healthcare inequalities and disparities, rare diseases and patient advocacy
  • Includes supplementary material: sn.pub/extras

Part of the book series: Communications in Medical and Care Compunetics (CMCC, volume 4)

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Table of contents (29 chapters)

  1. Front Matter

    Pages i-xxxiii
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  2. Rare and Orphan Diseases

    1. Front Matter

      Pages 1-1
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    2. Why R&D into Rare Diseases Matter

      • Remco L. A. de Vrueh
      Pages 3-20

    3. Vignette: Autoimmune Polyendocrine Syndrome Type I (APS 1)

      • Patrice F. Band
      Pages 21-25

    4. Rare Diseases: How Genomics has Transformed Thinking, Diagnoses and Hope for Affected Families

      • Pierre Meulien, Paul Lasko, Alex MacKenzie, Cindy Bell, Kym Boycott
      Pages 27-38

    5. Vignette: A Giant of a Man: Simon Ibell (MPS II)

      • Marie Ibell
      Pages 39-41

    6. Innovative Funding Models for Rare Diseases

      • Amanda Lordemann, Krissi Danielsson, Jimmy Cheng-Ho Lin
      Pages 43-50

    7. Rare Diseases: The Medical and the Disability Perspectives in the Age of 2.0

      • Sara Newman
      Pages 51-65

    8. Vignette: Taking Control of Thalassemia

      • Angela Covato
      Pages 67-70

    9. Industry Perspectives on Orphan Drug Development

      • Sylvie Grégoire, Norman Barton, David Whiteman
      Pages 71-80

  4. Patient Perspectives and Empowerment Issues

    1. Front Matter

      Pages 137-137
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    2. The Role of Social Media in Healthcare: Experiences of a Crohn’s Disease Patient

      • Michael Seres
      Pages 139-144

    3. Vignette: The Blessings and Curse of Diagnosis: Myasthenia Gravis

      • Grainne Pierse
      Pages 145-148
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Keywords

About this book

This text focuses on various factors associated with orphan diseases and the influence and role of health information technologies. Orphan diseases have not been adopted by the pharmaceutical industry because they provide little financial incentive to treat or prevent it. It is estimated that 6,000-7,000 orphan diseases exist today; as medical knowledge continues to expand, this number is likely to become much greater. The book highlights the opportunities and challenges in this increasingly important area. The book explores new avenues which are opened by information technologies and Health 2.0, and highlights also economic opportunities of orphan disease medicine. The editors of this new book have international experience and competencies in the key areas of patient empowerment, healthcare and clinical knowledge management, healthcare inequalities and disparities, rare diseases and patient advocacy.

Editors and Affiliations

  • Health Design and Technology Institute, Coventry University, Coventry, United Kingdom

    Rajeev K. Bali

  • International Council on Medical & Care Compunetics (ICMCC), Utrecht, The Netherlands

    Lodewijk Bos

  • Johns Hopkins Urban Health Institute, Baltimore, USA

    Michael Christopher Gibbons

  • iBellieve Foundation, Toronto, Canada

    Simon Ibell

About the editors

Drs Lodewijk Bos is founder and president of the International Council on Medical and Care Compunetics (ICMCC), an international foundation operating as the knowledge centre for medical and care compunetics (COMPUting & Networking, its EThICs and Social/societal implications). He is E-i-C of the Springer Journal "Health and Technology" and series editor of "Communications in Medical and Care Compunetics". Dr Rajeev K Bali is a Reader in Healthcare Knowledge Management at Coventry University, UK. His main research interests lie in clinical and healthcare knowledge management. He is well published in peer reviewed journals and conferences and has been invited internationally to deliver presentations and speeches. Dr M Chris Gibbons MD is Associate Director of the Johns Hopkins Urban Health Institute and an Assistant Professor at the Johns Hopkins Schools of Medicine and Public Health. He is an urban health expert and informatician who works primarily in the area of consumer health informatics where he focuses on using health information and communications technologies to improve urban healthcare disparities. Simon Ibell is an advocate for human potential and a role model for persons with disabilities. Ibell’s condition, known as MPS II (mucopolysaccharidosis) or Hunter syndrome, is rare and is the result of an enzyme deficiency, which affects most of his major organs, his joints, and is both painful and debilitating. The iBellieve Foundation is Simon’s official organization that aims to conquer MPS II and related Lysosomal Storage Disorders.

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