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

Advisory Board Member
Kathleen Bogart, Oregon State University, USA
 

Section Editors

Adult neuromuscular diseases
Xin-Ming Shen, Mayo Clinic, USA

Adult oncology
Payal Khincha, NIH, USA


Adult rheumatological diseases
Ertugrul Cagri Bolek, Hacettepe University, Turkey
Agnes Kocher, Universität Basel, Switzerland
Giuseppe Lopalco, University of Bari, Italy

Clinical genetics and genomics
Nan Wu, Baylor College of Medicine, USA

Dysmorphology
Donald Basel, Medical College of Wisconsin, USA
Miguel del Campo, University of California- San Diego, USA

Hematology
Gaurav Goyal, University of Alabama at Birmingham, USA
Kevin H.M. Kuo, University of Toronto, Canada

Inherited metabolic diseases
Iain Hargreaves, Liverpool John Moores University and National Hospital, UK
M. Estela Rubio-Gozalbo, Maastricht University Medical Center, The Netherlands

Lysosomal storage diseases
Walla Al-Hertani, Boston Children’s Hospital, USA
Bruno Bembi, University Hospital of Udine, Italy 
Alessandro Luciani, University of Zurich, Switzerland
Ben Pode-Shakked, Tel-Aviv University, Israel
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 

Obstetrics and Gynecology

Orphan drugs/ Health economics
Isaac Aranda Reneo, University of Castilla-La Mancha, Spain
Benoit Arnould, ICON, France
Mikel Berdud, The Office of Heath Economics, UK
Marc Dooms, University Hospitals Leuven, Belgium
Rosa Rodriguez-Monguio, University of California, San Francisco, USA

Otorhinolaryngology

Pediatric internal medicine
Brett J. Bordini, Children's Wisconsin Clinics, USA

Pediatric neurological diseases
Rima Nabbout, Hôpital Necker Enfants Maladesdisabled, France

Pediatric neuromuscular diseases
Partha Ghosh, Boston Children's Hospital, USA
Janbernd Kirschner, University Medical Center Freiburg, Germany

Pediatric oncology
Bernadette Brennan, Royal Manchester Children's Hospital, UK
Andrea Di Cataldo, Università degli Studi di Catania, Italy
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
Nan Wu, Baylor College of Medicine, USA

Rare cardiovascular diseases
Elizabeth Braunlin, University of Minnesota, USA
Ruxandra Jurcut, University of Medicine and Pharmacy Carol Davila, Romania

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

Constantine A. Stratakis, NICHD, NIH, USA

Rare gastrointestinal diseases
Jorge Amil Dias, Hospital São João, Portugal
Sumantra Chatterjee, NYU Langone Health, USA

Rare immune deficiencies
Andrew Gennery, Newcastle University, UK
Anna Shcherbina, Dmitry Rogachev National Medical Center of Pediatric Hematology, Oncology and Immunology, Russia

Rare kidney diseases
Olivier Devuyst, University of Zurich, Switzerland
Shih-Hua Lin, Tri-Service General Hospital, Taiwan
Tomasz Stompór, University of Warmia and Mazury in Olsztyn, Poland
Gere Sunder-Plassmann, Medical University Vienna, Austria
Roser Torra, Universitat Autonoma de Barcelona, Spain

Rare neurological diseases
Kazuo Abe, Hyogo College of Medicine, Japan 
Marc Engelen, Amsterdam Universitair Medische Centra, The Netherlands
Elizabeth McNeil, NIH, USA
Teepu Siddique, Northwestern University, USA
Francesca Trojsi, University of Campania "Luigi Vanvitelli", Italy
Bryn Webb, Icahn School of Medicine at Mount Sinai, USA

Rare opthalmological diseases
Isabelle Audo, INSERM, France
Samantha de Silva, Oxford University Hospitals NHS Foundation Trust, UK
Stephen H Tsang, Columbia University, USA
Andrea Vincent, University of Auckland, New Zealand

Rare pulmonary diseases
Andreas Günther, Justus Liebig University Giessen, Germany
Xiaowen Hu, University of Science and Technology of China, China
Romain Lazor, Lausanne University Hospital, Switzerland
Kai-Feng Xu, Peking Union Medical College Hospital, China

Rare skin diseases
Cristina Has, Universitätsklinikum Freiburg, Germany
Karoline Krause, Charité - Universitätsmedizin Berlin, Germany
Antonella Tosti, University of Miami, USA
Giovanna Zambruno, Istituto Dermopatico dell'Immacolata, Italy

Registries/ Health planning/ Health services/ Quality of Life
Nor Azian Abdul Murad, UKM Medical Molecular Biology Institute, Malaysia
Tatiana Foltánová, Comenius University in Bratislava, Slovakia
Anneliene Jonker, University of Twente, The Netherlands
Vanessa Merker, Massachusetts General Hospital, USA

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
Antonella Tosti, University of Miami Miller School of Medicine, USA
Juan Tovar, University Hospital La Paz, Spain
Alain Verloes, Hôpital Robert DEBRE, France
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