Full Description
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.
Contents
Part I: Rare and Orphan Diseases.- Why R&D into Rare Diseases Matter.- Vignette: Autoimmune Polyendocrine Syndrome Type I (APS 1).- Rare Diseases: How Genomics has Transformed Thinking, Diagnoses and Hope for Affected Families.- Vignette: A Giant of a Man: Simon Ibell (MPS II).- Innovative Funding Models for Rare Diseases.- Rare Diseases: The Medical and the Disability Perspectives in the Age of 2.0.- Vignette: Taking Control of Thalassemia.- Industry Perspectives on Orphan Drug Development.- Part II: Health 2.0.- Health 2.0: The Power of the Internet to Raise Awareness of Rare Diseases.- Vignette: Living with NOMID: Michael's Story.- Health 2.0 and Information Literacy for Rare and Orphan Diseases.- Social Media and Engaging with Health Providers.- Vignette: Hope-Overcoming Fabry.- Empowering the Rare Disease Community: Thirty Years of Progress.- Part III: Patient Perspectives and Empowerment Issues.- The Role of Social Media in Healthcare: Experiences of a Crohn's Disease Patient.- Vignette: The Blessings and Curse of Diagnosis: Myasthenia Gravis.- Noah's Hope: Family Experiences of Batten Disease.- Using Technology to Share Information: Experiences of Oesophagus Atresia (OA) and Tracheaoesophageal Fistel (TOF).- Vignette: MPSIIIA (Sanfilippo).- The Empowered Patient in the Health System of the Future.- Vignette: The Journey of a Lifetime.- Personalized Medicine: A Cautionary Tale or Instructional Epic.- Part IV: Closing Gaps: Promising Research and Future Considerations.- Managing Communication for People with Amyotrophic Lateral Sclerosis: The Role of the Brain-Computer Interface.- Vignette: The Wilderness.- Opportunities and Challenges for Supporting People with Vascular Dementia Through the Use of Common Web 2.0 Services.- Vignette: Recessive Dystrophic Epidermolysis Bullosa (RDEB): Sibling Experiences.- Health Policies for Orphan Diseases: International Comparison of Regulatory, Reimbursement and Health Services Policies.- Vignette: Route125 (October 2009).- Rare Diseases Challenges and Opportunities.- Epilogue.
