Rare Diseases in the Age of Health 2.0

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.