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

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

  • DOI https://doi.org/10.1007/978-3-319-67144-4
  • Copyright Information Springer International Publishing AG 2017
  • Publisher Name Springer, Cham
  • eBook Packages Biomedical and Life Sciences
  • Print ISBN 978-3-319-67142-0
  • Online ISBN 978-3-319-67144-4
  • Series Print ISSN 0065-2598
  • Series Online ISSN 2214-8019
  • About this book