Rare Diseases Epidemiology: Update and Overview

  • Manuel Posada de la Paz
  • Domenica Taruscio
  • Stephen C. Groft

Part of the Advances in Experimental Medicine and Biology book series (AEMB, volume 1031)

Table of contents

  1. Front Matter
    Pages i-xxxvi
  2. Introduction

    1. Front Matter
      Pages 1-1
  3. Rare Diseases Diagnosis

    1. Front Matter
      Pages 23-23
    2. Domenica Taruscio, Giovanna Floridia, Marco Salvatore, Stephen C. Groft, William A. Gahl
      Pages 25-38
    3. Malin Kvarnung, Ann Nordgren
      Pages 39-54
    4. Gareth Baynam, Faye Bowman, Karla Lister, Caroline E. Walker, Nicholas Pachter, Jack Goldblatt et al.
      Pages 55-94
  4. Registries, Natural History of Rare Diseases and Biobanks

    1. Front Matter
      Pages 95-95
    2. Rashmi Gopal-Srivastava, Petra Kaufmann
      Pages 125-140
    3. Yllka Kodra, Manuel Posada de la Paz, Alessio Coi, Michele Santoro, Fabrizio Bianchi, Faisal Ahmed et al.
      Pages 149-164
    4. Marco Roos, Estrella López Martin, Mark D. Wilkinson
      Pages 165-179
  5. Orphan Drugs and Therapies

    1. Front Matter
      Pages 181-181
    2. William C. Maier, Ronald A. Christensen, Patricia Anderson
      Pages 197-205
    3. Georgi Iskrov, Tsonka Miteva-Katrandzhieva, Rumen Stefanov
      Pages 221-231
    4. Bobbie Ann Austin, Ami D. Gadhia
      Pages 233-247
    5. Lilisbeth Perestelo-Pérez, Amado Rivero-Santana, Analia Abt-Sacks, Ana Toledo-Chavarri, Noe Brito, Yolanda Álvarez-Pérez et al.
      Pages 249-264
  6. Cost-Effectiveness and Cost-of-Illness

    1. Front Matter
      Pages 265-265
    2. I. Castilla-Rodríguez, L. Vallejo-Torres, M. L. Couce, C. Valcárcel-Nazco, J. Mar, P. Serrano-Aguilar
      Pages 267-281
    3. Renata Linertová, Lidia García-Pérez, Iñigo Gorostiza
      Pages 283-297
  7. Rare Diseases Prevention

    1. Front Matter
      Pages 299-299
    2. Domenica Taruscio, Francesca Baldi, Pietro Carbone, Amanda J. Neville, Giovanni Rezza, Caterina Rizzo et al.
      Pages 301-322
    3. Tiina K. Urv, Melissa A. Parisi
      Pages 323-346
  8. New Research Perspectives in RD

    1. Front Matter
      Pages 347-347
    2. Javier García-Castro, Ilyas Singeç
      Pages 371-386
    3. Sebastian Schee genannt Halfmann, Laura Mählmann, Lada Leyens, Matthias Reumann, Angela Brand
      Pages 387-404
  9. Rare Diseases Epidemiology

    1. Front Matter
      Pages 417-417
    2. Cormac McCarthy, Beatriz Lara Gallego, Bruce C. Trapnell, Francis X. McCormack
      Pages 419-442
    3. Antoni Matilla-Dueñas, Marc Corral-Juan, Agustí Rodríguez-Palmero Seuma, Dolores Vilas, Lourdes Ispierto, Sara Morais et al.
      Pages 443-496
    4. Simone Baldovino, Elisa Menegatti, Dario Roccatello, Savino Sciascia
      Pages 497-509
    5. Gareth Baynam, Caron Molster, Alicia Bauskis, Emma Kowal, Ravi Savarirayan, Margaret Kelaher et al.
      Pages 511-520
    6. Greta Arias Merino, Germán Sánchez Díaz, Ana Villaverde-Hueso, Manuel Posada de la Paz, Verónica Alonso Ferreira
      Pages 521-533
    7. Eva Bermejo-Sánchez, Manuel Posada de la Paz
      Pages 535-557
  10. Rare Diseases Policies and Society

    1. Front Matter
      Pages 559-559
    2. Antoni Montserrat Moliner, Jaroslaw Waligora
      Pages 561-587
    3. Deborah Mascalzoni, Carlo Petrini, Domenica Taruscio, Sabina Gainotti
      Pages 589-604
    4. Raquel Castro, Juliette Senecat, Myriam de Chalendar, Ildikó Vajda, Dorica Dan, Béata Boncz et al.
      Pages 605-627
    5. Rita Maria Ferrelli, Marta De Santis, Amalia Egle Gentile, Domenica Taruscio
      Pages 629-640
    6. Stephen C. Groft, Manuel Posada de la Paz
      Pages 641-648
  11. Back Matter
    Pages 649-667

About this book


This second edition of the book about Rare Diseases Epidemiology aims to highlight the progress of rare diseases research and related activities since the first volume published. As with the previous book, this update provides a comprehensive list of issues and adds new authors who are leaders in their different areas of expertise related to rare diseases at national and international levels.

Rare diseases and orphan drugs are challenges for patients and families but also for physicians, researchers, and policy-makers in both the public and private sectors. This book aims to help all of them to address topics like health care policies, societal issues and clinical and experimental research.

Readers will discover methods and procedures to address a variety of questions like cases of undiagnosed rare diseases, patient registries and biobanks, health care and public health approach to rare diseases, orphan drugs and new therapies, cost-effectiveness analyses, prevention, clinical and epidemiology of individual and groups of related rare diseases, novel advances in study design and data analyses, national and international policies and social issues. Within each one of these general issues,  advances, new challenges and opportunities to address significant health care issues are described across thirty-two chapters.

Editors and all authors providing chapters include globally recognized experts in different areas of rare diseases, including epidemiology, public health, health economics and pharmacology, statistics, and basic, clinical and translational research. People engaged in policy formulation decisions on rare diseases as well as patient representatives relate their own point of view about social constraints they live under on a daily basis. Renowned research investigators, highly-skilled clinicians, and recognized patient leaders  are included as contributing authors to this new book about rare diseases. In fact, two of the editors are the current President and President Elect of the International Conference on Rare Diseases and Orphan Drugs and the third one is a board member of this society.

The book has been written for all stakeholders but mainly for those involved in the many issues related to rare diseases. They can discover new ways for dealing with important matters related to the prevention, diagnosis, natural history, treatments, and research of rare diseases and the development of orphan products. 


epidemiology genotype-phenotype correlation next generation sequencing orphan drugs rare diseases

Editors and affiliations

  • Manuel Posada de la Paz
    • 1
  • Domenica Taruscio
    • 2
  • Stephen C. Groft
    • 3
  1. 1.RDR and CIBERERInstituto de Salud Carlos IIIMadridSpain
  2. 2.Centro Nazionale Malattie RareIstituto Superiore di SanitaRomaItaly
  3. 3.National Center for Advancing Translational SciencesNational Institutes of HealthBethesdaUSA

Bibliographic information

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