Editorial Board

Editorial Board

Editor-in-Chief
Ségolène Aymé, Hopital Broussais, INSERM, France

Section Editors

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

Inherited metabolic diseases
Elaine Murphy, University College London, UK
Ida Schwartz, Portal Hospital de Clínicas de Porto Alegre, Brazil

Lysosomal storage diseases
Bruno Bembi, University Hospital of Udine, Italy
Carla Hollak, Academic Medical Center, Netherlands
Gregory Pastores, National Center for Inherited Metabolic Diseases, Ireland

Mitochondrial Diseases
Daniele Ghezzi, Fondazione I.R.C.C.S. Istituto Neurologico Carlo Besta, Italy 

Pediatric neuromuscular diseases
Janbernd Kirschner, University Medical Center Freiburg, Germany

Pediatric rheumatological diseases
Frank Dressler, Medizinische Hochschule, Germany

Rare bone diseases and skeletal dysplasias
Shiro Ikegawa, RIKEN, Japan
Andreas Zankl, The University of Sydney, Australia

Rare cardiovascular diseases
Ken-ichi Hirano, Osaka University, Japan

Rare coagulation diseases
Flora Peyvandi, University of Milan, Italy

Rare endocrinological diseases
Sebastiano Filetti, University of Rome La Sapienza, Italy

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
Antonio Federico, University of Siena, Italy
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
Giovanna Zambruno, Istituto Dermopatico dell'Immacolata, Italy

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
Vincent Cottin, Hopital L Pradel, France
Matthias Griese, Ludwig-Maximilians University of Munich, Germany
Jennifer Kalish, University of Pennsylvania, USA
Lisa Licitra, Istituto Nazionale Tumori, Italy
Giorgina Mieli-Vergani, King’s College Hospital, UK
Ute Moog, University of Heidelberg, Germany
Gen Nishimura, Tokyo Metropolitan Children's Medical Center, Japan
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