© 2017

Rare Diseases Epidemiology: Update and Overview

  • Manuel Posada de la Paz
  • Domenica Taruscio
  • Stephen C. Groft
  • Contributors and Authors with Unique Experiences in Rare Diseases Research and Orphan Products Development

  • Contributors include leading patient advocates, foundation leaders, research investigators, regulatory agency decision makers, and bio-pharmaceutical industry leaders

  • Multi-National Government Program and Policy Leaders

  • Leaders in Global Collaboration Efforts


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

About the editors

Manuel Posada, MD, PhD (Please expand as you feel appropriate) is a specialist in Internal Medicine and in Public Health and Preventive Medicine. He has considerable expertise in areas such as multivariate analyses, medical statistics and research methodology. In his current position as Director of the Institute of Rare Diseases Research (IIER), Institute of Health Carlos III he leads a broad range of rare diseases activities in Spain in areas such as epidemiological and public health research. Dr. Posada is also the Director of the National Biobank on Rare Diseases (ISCIII) and the National Rare Diseases Registry. Dr. Posada is an Independent expert of the Commission Expert Group of Rare Diseases (CEGRD), European Commission and a member of the Advisory Board of the European Commission Platform Rare Diseases Registration. He is currently the President of the International Conference of Orphan Drugs and Rare Diseases (ICORD)

Domenica Taruscio, M.D., is the Director of the Italian National Centre for Rare Diseases at the Italian National Institute of Health and of the National Rare Diseases Registry. She is a specialist in Histopathology and carried out post-doctoral studies in Human Genetics at Yale University (CT-USA) and in Bioethics. For decades, her efforts have been mainly directed to face the many and complex challenges posed by rare diseases and has addressed them from various facets: from science to society, from experimental research to public health, from training health professionals to the empowerment of patients and their families - having always at heart the quality of life of rare disease patients and of their families.

Stephen C. Groft, Pharm.D. is currently a Senior Advisor to the Director, National Center for Advancing Translational Sciences at the NIH, USA. He assisted in establishing the Office of Orphan Products Development at FDA in 1982 and served as the Director of NIH’s Office of Rare Diseases Research from 1993-2014 stimulating rare diseases research and developing information for patients, health care providers, research investigators, the biopharmaceutical industry, and the public about rare diseases, ongoing and completed research and clinical trials, and patient advocacy groups. Numerous initiatives were established in this role including the establishment of the Genetic and Rare Diseases Information Center, the International Rare Diseases Research Consortium the International Conference on Rare Diseases and Orphan Drugs, the Rare Diseases Clinical Research Network, assisted in the development of the Undiagnosed Diseases Program at NIH and the global Undiagnosed Diseases Network International, and developed common data elements for patient registries. ORDR co-sponsored numerous scientific conferences to assist in identifying research priorities and developing research agendas for the investigation of rare diseases.

Bibliographic information

  • Book Title Rare Diseases Epidemiology: Update and Overview
  • Editors Manuel Posada de la Paz
    Domenica Taruscio
    Stephen C. Groft
  • Series Title Advances in Experimental Medicine and Biology
  • Series Abbreviated Title Adv Exp Med Biol
  • DOI
  • Copyright Information Springer International Publishing AG 2017
  • Publisher Name Springer, Cham
  • eBook Packages Biomedical and Life Sciences Biomedical and Life Sciences (R0)
  • Hardcover ISBN 978-3-319-67142-0
  • Softcover ISBN 978-3-319-88385-4
  • eBook ISBN 978-3-319-67144-4
  • Series ISSN 0065-2598
  • Series E-ISSN 2214-8019
  • Edition Number 2
  • Number of Pages XXXVI, 667
  • Number of Illustrations 30 b/w illustrations, 0 illustrations in colour
  • Topics Health Promotion and Disease Prevention
    Human Genetics
  • Buy this book on publisher's site
Industry Sectors
Health & Hospitals
Public Health


“This second edition provides an update on the rapidly evolving field of rare disease research since the 2010 publication of the definitive first edition. … The intended audience is clinicians, epidemiologists, and policymakers, as well as other professionals involved in rare diseases and research. The contributing authors are well versed in areas related to rare disease epidemiology, research, and health policy.” (Victoria L. Crabb, Doody's Book Reviews, October, 2018)