Rare Diseases Epidemiology: Update and Overview

Part I. Introduction

1. Rare Diseases: Joining Mainstream Research and Treatment Based on Reliable Epidemiological Data
Stephen C. Groft, Manuel Posada de la Paz

Part II. Rare Diseases Diagnosis

2. 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

3. Intellectual Disability & Rare Disorders: A Diagnostic Challenge
Malin Kvarnung, Ann Nordgren

4. 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, 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 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

Part III. Registries, Natural History of Rare Diseases and Biobanks

5. Natural History, Trial Readiness and Gene Discovery: Advances in Patient Registries for Neuromuscular Disease
Rachel Thompson, Agata Robertson, Hanns Lochmüller

6. Facilitating Clinical Studies in Rare Diseases
Rashmi Gopal-Srivastava, Petra Kaufmann

7. 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

8. Data Quality in Rare Diseases Registries
Yllka Kodra, Manuel Posada de la Paz, Alessio Coi, Michele Santoro, Fabrizio Bianchi, Faisal Ahmed, Yaffa R. Rubinstein, Jérôme Weinbach, Domenica Taruscio

9. Preparing Data at the Source to Foster Interoperability across Rare Disease Resources
Marco Roos, Estrella López Martin, Mark D. Wilkinson

Part IV. Orphan Drugs and Therapies

10. Incentivizing Orphan Product Development: United States Food and Drug Administration Orphan Incentive Programs
Tran T. Le

11. Post-approval Studies for Rare Disease Treatments and Orphan Drugs
William C. Maier, Ronald A. Christensen, Patricia Anderson

12. Evidence-Based Medicine and Rare Diseases
Simon Day

13. Health Technology Assessment and Appraisal of Therapies for Rare Diseases
Georgi Iskrov, Tsonka Miteva-Katrandzhieva, Rumen Stefanov

14. New Therapeutic Uses for Existing Drugs
Bobbie Ann Austin, Ami D. Gadhia

15. Patient Empowerment and Involvement in Research
Lilisbeth Perestelo-Pérez, Amado Rivero-Santana, Analia Abt-Sacks, Ana Toledo-Chavarri, Noe Brito, Yolanda Álvarez-Pérez, Nerea González-Hernández, Pedro Serrano-Aguilar

Part V. Cost-Effectiveness and Cost-of-Illness

16. Cost-Effectiveness Methods and Newborn Screening Assessment
I. Castilla-Rodríguez, L. Vallejo-Torres, M. L. Couce, C. Valcárcel-Nazco, J. Mar, P. Serrano-Aguilar

17. Cost-of-Illness in Rare Diseases
Renata Linertová, Lidia García-Pérez, Iñigo Gorostiza

Part VI. Rare Diseases Prevention

18. 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, Alberto Mantovani

19. Newborn Screening: Beyond the Spot
Tiina K. Urv, Melissa A. Parisi

Part VII. New Research Perspectives in RD

20. 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

21. Prospects of Pluripotent and Adult Stem Cells for Rare Diseases
Javier García-Castro, Ilyas Singeç

22. Personalized Medicine: What’s in it for Rare Diseases?
Sebastian Schee genannt Halfmann, Laura Mählmann, Lada Leyens, Matthias Reumann, Angela Brand

23. Microphysiological Systems (Tissue Chips) and their Utility for Rare Disease Research
Lucie A. Low, Danilo A. Tagle

Part VIII. Rare Diseases Epidemiology

24. 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

25. Rare Neurodegenerative Diseases: Clinical and Genetic Update
Antoni Matilla-Dueñas, Marc Corral-Juan, Agustí Rodríguez-Palmero Seuma, Dolores Vilas, Lourdes Ispierto, Sara Morais, Jorge Sequeiros, Isabel Alonso, Víctor Volpini, Carmen Serrano-Munuera, Guillem Pintos-Morell, Ramiro Álvarez, Ivelisse Sánchez

26. Immunological Rare Diseases
Simone Baldovino, Elisa Menegatti, Dario Roccatello, Savino Sciascia

27. Indigenous Genetics and Rare Diseases: Harmony, Diversity and Equity
Gareth Baynam, Caron Molster, Alicia Bauskis, Emma Kowal, Ravi Savarirayan, Margaret Kelaher, Simon Easteal, Libby Massey, Gail Garvey, Jack Goldblatt, Nicholas Pachter, Tarun S. Weeramanthri, Hugh J. S. Dawkins

28. 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

29. Congenital Anomalies: Cluster Detection and Investigation
Eva Bermejo-Sánchez, Manuel Posada de la Paz

Part IX. Rare Diseases Policies and Society

30. The European Union Policy in the Field of Rare Diseases
Antoni Montserrat Moliner, Jaroslaw Waligora

31. The Role of Solidarity(-ies) in Rare Diseases Research
Deborah Mascalzoni, Carlo Petrini, Domenica Taruscio, Sabina Gainotti

32. Bridging the Gap between Health and Social Care for Rare Diseases: Key Issues and Innovative Solutions
Raquel Castro, Juliette Senecat, Myriam Chalendar, Ildikó Vajda, Dorica Dan, Béata Boncz

33. Health Systems Sustainability and Rare Diseases
Rita Maria Ferrelli, Marta Santis, Amalia Egle Gentile, Domenica Taruscio

34. Preparing for the Future of Rare Diseases
Stephen C. Groft, Manuel Posada de la Paz

Keywords: Medicine & Public Health, Health Promotion and Disease Prevention, Human Genetics, Epidemiology