Rare Diseases Epidemiology: Update and Overview

Front Matter ....Pages i-xxxvi
Front Matter ....Pages 1-1
 Rare Diseases: Joining Mainstream Research and Treatment Based on Reliable Epidemiological Data  (Stephen C. Groft, Manuel Posada de la Paz)....Pages 3-21
Front Matter ....Pages 23-23
 Undiagnosed Diseases: Italy-US Collaboration and International Efforts to Tackle Rare and Common Diseases Lacking a Diagnosis  (Domenica Taruscio, Giovanna Floridia, Marco Salvatore, Stephen C. Groft, William A. Gahl)....Pages 25-38
 Intellectual Disability & Rare Disorders: A Diagnostic Challenge  (Malin Kvarnung, Ann Nordgren)....Pages 39-54
 Improved Diagnosis and Care for Rare Diseases through Implementation of Precision Public Health Framework  (Gareth Baynam, Faye Bowman, Karla Lister, Caroline E. Walker, Nicholas Pachter, Jack Goldblatt et al.)....Pages 55-94
Front Matter ....Pages 95-95
 Natural History, Trial Readiness and Gene Discovery: Advances in Patient Registries for Neuromuscular Disease  (Rachel Thompson, Agata Robertson, Hanns Lochmüller)....Pages 97-124
 Facilitating Clinical Studies in Rare Diseases  (Rashmi Gopal-Srivastava, Petra Kaufmann)....Pages 125-140
 Rare Disease Biospecimens and Patient Registries: Interoperability for Research Promotion, a European Example: EuroBioBank and SpainRDR-BioNER  (Yaffa R. Rubinstein, Manuel Posada de la Paz, Marina Mora)....Pages 141-147
 Data Quality in Rare Diseases Registries  (Yllka Kodra, Manuel Posada de la Paz, Alessio Coi, Michele Santoro, Fabrizio Bianchi, Faisal Ahmed et al.)....Pages 149-164
 Preparing Data at the Source to Foster Interoperability across Rare Disease Resources  (Marco Roos, Estrella López Martin, Mark D. Wilkinson)....Pages 165-179
Front Matter ....Pages 181-181
 Incentivizing Orphan Product Development: United States Food and Drug Administration Orphan Incentive Programs  (Tran T. Le)....Pages 183-196
 Post-approval Studies for Rare Disease Treatments and Orphan Drugs  (William C. Maier, Ronald A. Christensen, Patricia Anderson)....Pages 197-205
 Evidence-Based Medicine and Rare Diseases  (Simon Day)....Pages 207-220
 Health Technology Assessment and Appraisal of Therapies for Rare Diseases  (Georgi Iskrov, Tsonka Miteva-Katrandzhieva, Rumen Stefanov)....Pages 221-231
 New Therapeutic Uses for Existing Drugs  (Bobbie Ann Austin, Ami D. Gadhia)....Pages 233-247
 Patient Empowerment and Involvement in Research  (Lilisbeth Perestelo-Pérez, Amado Rivero-Santana, Analia Abt-Sacks, Ana Toledo-Chavarri, Noe Brito, Yolanda Álvarez-Pérez et al.)....Pages 249-264
Front Matter ....Pages 265-265
 Cost-Effectiveness Methods and Newborn Screening Assessment  (I. Castilla-Rodríguez, L. Vallejo-Torres, M. L. Couce, C. Valcárcel-Nazco, J. Mar, P. Serrano-Aguilar)....Pages 267-281
 Cost-of-Illness in Rare Diseases  (Renata Linertová, Lidia García-Pérez, Iñigo Gorostiza)....Pages 283-297
Front Matter ....Pages 299-299
 Primary Prevention of Congenital Anomalies: Special Focus on Environmental Chemicals and other Toxicants, Maternal Health and Health Services and Infectious Diseases  (Domenica Taruscio, Francesca Baldi, Pietro Carbone, Amanda J. Neville, Giovanni Rezza, Caterina Rizzo et al.)....Pages 301-322
 Newborn Screening: Beyond the Spot  (Tiina K. Urv, Melissa A. Parisi)....Pages 323-346
Front Matter ....Pages 347-347
 A Global Approach to Rare Diseases Research and Orphan Products Development: The International Rare Diseases Research Consortium (IRDiRC)  (Christine M. Cutillo, Christopher P. Austin, Stephen C. Groft)....Pages 349-369
 Prospects of Pluripotent and Adult Stem Cells for Rare Diseases  (Javier García-Castro, Ilyas Singeç)....Pages 371-386
 Personalized Medicine: What’s in it for Rare Diseases?  (Sebastian Schee genannt Halfmann, Laura Mählmann, Lada Leyens, Matthias Reumann, Angela Brand)....Pages 387-404
 Microphysiological Systems (Tissue Chips) and their Utility for Rare Disease Research  (Lucie A. Low, Danilo A. Tagle)....Pages 405-415
Front Matter ....Pages 417-417
 Epidemiology of Rare Lung Diseases: The Challenges and Opportunities to Improve Research and Knowledge  (Cormac McCarthy, Beatriz Lara Gallego, Bruce C. Trapnell, Francis X. McCormack)....Pages 419-442
 Rare Neurodegenerative Diseases: Clinical and Genetic Update  (Antoni Matilla-Dueñas, Marc Corral-Juan, Agustí Rodríguez-Palmero Seuma, Dolores Vilas, Lourdes Ispierto, Sara Morais et al.)....Pages 443-496
 Immunological Rare Diseases  (Simone Baldovino, Elisa Menegatti, Dario Roccatello, Savino Sciascia)....Pages 497-509
 Indigenous Genetics and Rare Diseases: Harmony, Diversity and Equity  (Gareth Baynam, Caron Molster, Alicia Bauskis, Emma Kowal, Ravi Savarirayan, Margaret Kelaher et al.)....Pages 511-520
 Mortality Statistics and their Contribution to Improving the Knowledge of Rare Diseases Epidemiology: The Example of Hereditary Ataxia in Europe  (Greta Arias Merino, Germán Sánchez Díaz, Ana Villaverde-Hueso, Manuel Posada de la Paz, Verónica Alonso Ferreira)....Pages 521-533
 Congenital Anomalies: Cluster Detection and Investigation  (Eva Bermejo-Sánchez, Manuel Posada de la Paz)....Pages 535-557
Front Matter ....Pages 559-559
 The European Union Policy in the Field of Rare Diseases  (Antoni Montserrat Moliner, Jaroslaw Waligora)....Pages 561-587
 The Role of Solidarity(-ies) in Rare Diseases Research  (Deborah Mascalzoni, Carlo Petrini, Domenica Taruscio, Sabina Gainotti)....Pages 589-604
 Bridging the Gap between Health and Social Care for Rare Diseases: Key Issues and Innovative Solutions  (Raquel Castro, Juliette Senecat, Myriam de Chalendar, Ildikó Vajda, Dorica Dan, Béata Boncz et al.)....Pages 605-627
 Health Systems Sustainability and Rare Diseases  (Rita Maria Ferrelli, Marta De Santis, Amalia Egle Gentile, Domenica Taruscio)....Pages 629-640
 Preparing for the Future of Rare Diseases  (Stephen C. Groft, Manuel Posada de la Paz)....Pages 641-648
Back Matter ....Pages 649-667