Rare Diseases Epidemiology: Update and Overview
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 issu
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Manuel Posada de la Paz Domenica Taruscio Stephen C. Groft Editors
Rare Diseases Epidemiology: Update and Overview Second Edition
Advances in Experimental Medicine and Biology Volume 1031
Editorial Board IRUN R. COHEN, The Weizmann Institute of Science, Rehovot, Israel ABEL LAJTHA, N.S. Kline Institute for Psychiatric Research, Orangeburg, NY, USA JOHN D. LAMBRIS, University of Pennsylvania, Philadelphia, PA, USA RODOLFO PAOLETTI, University of Milan, Milan, Italy NIMA REZAEI, Tehran University of Medical Sciences Children’s Medical Center, Tehran, Iran
More information about this series at http://www.springer.com/series/5584
Manuel Posada de la Paz • Domenica Taruscio Stephen C. Groft Editors
Rare Diseases Epidemiology: Update and Overview Second Edition
Editors Manuel Posada de la Paz RDR and CIBERER Instituto de Salud Carlos III Madrid, Spain
Domenica Taruscio Centro Nazionale Malattie Rare Istituto Superiore di Sanita Roma, Italy
Stephen C. Groft National Center for Advancing Translational Sciences National Institutes of Health Bethesda, MD, USA
ISSN 0065-2598 ISSN 2214-8019 (electronic) Advances in Experimental Medicine and Biology ISBN 978-3-319-67142-0 ISBN 978-3-319-67144-4 (eBook) https://doi.org/10.1007/978-3-319-67144-4 Library of Congress Control Number: 2017959193 1st edition: © Springer Science+Business Media B.V. 2010 © Springer International Publishing AG 2017 This work is subject to copyright. All rights are reserved by the Publisher, whether the whole or part of the material is concerned, specifically the rights of translation, reprinting, reuse of illustrations, recitation, broadcasting, reproduction on microfilms or in any other physical way, and transmission or information storage and retrieval, electronic adaptation, computer software, or by similar or dissimilar methodology now known or hereafter developed. The use of general descriptive names, registered names, trademarks, service marks, etc. in this publication does not imply, even in the absence of a specific statement, that such names are exempt from the relevant protective laws and regulations and therefore free for general use. The publisher, the authors and the Editors are safe to assume that the advice and information in this book are believed to be true and accurate at the date of publication. Neither the publisher nor the authors or the Editors give a warranty, express or implied, with respect to the material contained herein or for any errors or omissions that may have been made. The publisher remains neutral with regard to jurisdictional claims in published maps and institutional affiliations. Printed on acid-free paper This Springer imprint is published by Springer Nature The registered company is Springer International Publishing AG The registered company address is: Gewerbestrasse 11, 6330 Cham, Switzerland
Preface
The Power of one and the Power of Many: Patient Advocacy and its Influence on Rare Disease Research – Evolutionary and Revolutionary Factors In this updated book, the Editors have invited Jo
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