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Editorial Board

Editor-in-Chief
Francesc Palau, Hospital Sant Joan de Déu Barcelona and CIBERER, Spain 

Managing Editor
Virginia Corrochano, Centre for Biomedical Network Research on Rare Diseases, Spain

Section Editors

Clinical genetics and genomics
Bruno Dallapiccola, Ospedale Bambino Gesù, IRCCS, Italy

Dysmorphology
Miguel del Campo, University of California- San Diego, USA

Inherited metabolic diseases
Manuela de Almeida Roediger, Universidade de São Paulo, Brazil
Kimberly Chapman, Children's National Health System, USA
Jeff Guo, University of Cincinnati, USA
Iain Hargreaves, Liverpool John Moores University and National Hospital, UK

Lysosomal storage diseases
Walla Al-Hertani, Boston Children’s Hospital, USA
Manisha Balwani, Icahn School of Medicine at Mount Sinai, USA
Bruno Bembi, University Hospital of Udine, Italy 
Jaya Ganesh, Icahn School of Medicine at Mount Sinai, USA 
Manoj Pandey, Cincinnati Children's Hospital, USA
Gregory Pastores, National Center for Inherited Metabolic Diseases, Ireland
Raymond Wang, CHOC Children’s, USA

Mitochondrial Diseases
Rafael Artuch, Hospital Sant Joan de Déu, Spain
Daniele Ghezzi, Fondazione I.R.C.C.S. Istituto Neurologico Carlo Besta, Italy 

Orphan drugs/ Health economics
Mikel Berdud, The Office of Heath Economics, UK
Dyfrig Hughes, Bangor University, UK
Rosa Rodriguez-Monguio, University of California, San Francisco, USA

Pediatric neuromuscular diseases
Janbernd Kirschner, University Medical Center Freiburg, Germany
Carmen Paradas López, Hospital Universitario Virgen del Rocio, Spain

Pediatric oncology
Karlyne M Reilly, National Cancer Institute, USA

Pediatric rheumatological diseases
Frank Dressler, Medizinische Hochschule, Germany

Rare bone diseases and skeletal dysplasias 
Christina Lampe, University of Gießen, Germany
Klaus Mohnike, Otto-von-Guericke Universität, Germany

Rare cardiovascular diseases
Roberto Barriales-Villa, Complexo Hospitalario Universitario A Coruña, Spain
Ken-ichi Hirano, Osaka University, Japan

Rare coagulation diseases
Flora Peyvandi, University of Milan, Italy

Rare endocrinological diseases
Maria Luisa Brandi, Università degli Studi di Firenze, Italy
Bruno Donadille, Hôpital Saint Antoine, France
Xiaomu Kong, China-Japan Friendship Hospital, China

Rare gastrointestinal diseases
Jorge Amil Dias, Hospital São João, Portugal

Rare immune deficiencies
Andrew Gennery, Newcastle University, UK

Rare kidney diseases
Olivier Devuyst, University of Zurich, Switzerland

Rare neurological diseases
Marc Engelen, Amsterdam Universitair Medische Centra, The Netherlands
Anna Lehman, University of British Columbia, Canada
Elizabeth McNeil, NIH, USA
Yi-Cheng Zhu, Peking Union Medical College Hospital, China

Rare opthalmological diseases
Isabelle Audo, INSERM, France

Rare pulmonary diseases
Ulrich Costabel, Universitätsklinikum Essen, Germany
Kai-Feng Xu, Peking Union Medical College Hospital, China

Rare skin diseases
Cristina Has, Universitätsklinikum Freiburg, Germany
Giovanna Zambruno, Istituto Dermopatico dell'Immacolata, Italy

Registries/ Health planning/ Health services
Tatiana Foltánová, Comenius University in Bratislava, Slovakia
Lidia García-Pérez, SESCS, Spain

Editorial Board
Fowzan Alkuraya, KFSHRC, Saudi Arabia
Robert Anderson, University College London, UK
Marieke Biegstraaten, Academic Medical Center, Netherlands
Jean-Yves Blay, Université Claude Bernard Lyon I, France
Francesc Cardellach, University of Barcelona School of Medicine, Spain
Vincent Cottin, Hopital L Pradel, France
Matthias Griese, Ludwig-Maximilians University of Munich, Germany
Helena Kääriäinen, National Institute for Health and Welfare, Finland
Jennifer Kalish, University of Pennsylvania, USA
Lisa Licitra, Istituto Nazionale Tumori, Italy
Milan Macek, Charles University and Motol University Hospital, Czech Republic
Ute Moog, University of Heidelberg, Germany
Massimo Pandolfo, Université Libre de Bruxelles, Belgium
Anne Slavotinek, UCSF, United States of America
Ronald Sokol, University of Colorado School of Medicine, USA
Constantinos Stratakis, NICHD, NIH, USA
Antonella Tosti, University of Miami Miller School of Medicine, USA
Juan Tovar, University Hospital La Paz, Spain
Alain Verloes, Hôpital Robert DEBRE, France
Andrea Vincent, University of Auckland, New Zealand
Joan-Lluis Vives Corrons, University of Barcelona, Spain
Dagmar Wieczorek, Universitätsklinikum Essen, Germany
Frits Wijburg, Academic Medical Center, Netherlands
Christina Zeitz, Université Pierre et Marie Curie, INSERM, France