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
Andrew Gennery, Newcastle University, UK

Section Editors
Bone diseases/ skeletal dysplasias
Christina Lampe, University of Gießen, Germany
Klaus Mohnike, Otto-von-Guericke Universität, Germany
Nan Wu, Baylor College of Medicine, USA

Cardiovascular diseases
Elizabeth Braunlin, University of Minnesota, USA
Ruxandra Jurcut, University of Medicine and Pharmacy Carol Davila, Romania
Antoni Riera-Mestre, Hospital Universitari de Bellvitge, Spain

Clinical genetics and developmental disorders
Santasree Banerjee, Jilin University, China
Donald Basel, Medical College of Wisconsin, USA
Dr. Gunadi, Universitas Gadjah Mada, Indonesia
Saumya Shekhar Jamuar, KK Women's and Children's Hospital, Singapore
Sajid Malik, Quaid-i-Azam University, Pakistan
Angela Peron, Meyer Children’s Hospital IRCCS, Università degli Studi di Firenze, Italy
Nara Sobreira, Johns Hopkins University, USA
Nan Wu, Baylor College of Medicine, USA

Coagulation diseases and anemias
Flora Peyvandi, University of Milan, Italy

Dental pathologies
Thorakkal Shamim, Government General Hospital, Manjeri, India

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

Epidemiology/Registries

Health planning/ Health services/ Quality of Life/ Health economics/ Orphan drugs
Isaac Aranda Reneo, University of Castilla-La Mancha, Spain
Mikel Berdud, The Office of Heath Economics, UK
Peikai Chen, The University of Hong Kong-Shenzhen Hospital; The University of Hong Kong, China
Marc Dooms, University Hospitals Leuven, Belgium
Kathryn Gallop, Acaster Lloyd Consulting, UK
Anneliene Jonker, University of Twente, The Netherlands
Panos Kanavos, London School of Economics, UK
Nor Azian Abdul Murad, UKM Medical Molecular Biology Institute, Malaysia
Rosa Rodriguez-Monguio, University of California, San Francisco, USA
Georgi Iskrov, Medical University of Plovdiv, Bulgaria
Wei Wang, Edith Cowan University, Australia

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

Hematology
Gaurav Goyal, University of Alabama at Birmingham, USA

Hepatology
Duangrurdee Wattanasirichaigoon, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Thailand

Immune deficiencies
Mahnaz Jamee, Leiden University Medical Center, Netherlands
Anna Shcherbina, Dmitry Rogachev National Medical Center of Pediatric Hematology, Oncology and Immunology, Russia
Yini Wang, Beijing Friendship Hospital, Capital Medical University, China

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

Internal Medicine, adult

Internal Medicine, pediatric
Brett J. Bordini, Children's Wisconsin Clinics, USA

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

Lysosomal storage diseases
Walla Al-Hertani, Boston Children’s Hospital, USA
Alessandro Luciani, University of Zurich, Switzerland
Agnieszka Ługowska, Institute of Psychiatry and Neurology, Dept. of Genetics, Poland
Ben Pode-Shakked, Tel-Aviv University, Israel
Karolina Stepien, Salford Royal NHS Foundation Trust, UK

Mitochondrial Diseases
Hezhi Fang, Zhejiang Provincial Key Laboratory of Medical Genetics, China
Daniele Ghezzi, Fondazione I.R.C.C.S. Istituto Neurologico Carlo Besta, Italy 

Neurologic diseases, adult
Kazuo Abe, Hyogo College of Medicine, Japan 
Elizabeth McNeil, NIH, USA
Francesca Trojsi, University of Campania "Luigi Vanvitelli", Italy
Bryn Webb, Icahn School of Medicine at Mount Sinai, USA

Neurologic diseases, pediatric

Neuromuscular diseases, adult
Xin-Ming Shen, Mayo Clinic, USA

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

Obstetrics and Gynecology
Andrea Giannini, Sapienza University, Iatly

Oncology, adult
Payal Khincha, NIH, USA

Oncology, pediatric
Bernadette Brennan, Royal Manchester Children's Hospital, UK
Andrea Di Cataldo, Università degli Studi di Catania, Italy

Ophthalmological 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

Other

Otorhinolaryngology
Alvaro Gallego-Martinez, Biosanitary Research Institute of Granada (ibs.GRANADA), Spain

Pulmonary diseases
Francisco Dasí, University of Valencia. School of Medicine. Department of Physiology. IIS INCLIVA., Spain
Xiaowen Hu, University of Science and Technology of China, China
Kai-Feng Xu, Peking Union Medical College Hospital, China

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

Rheumatological diseases, pediatric 
Frank Dressler, Medizinische Hochschule, Germany

Skin diseases
Cristina Has, Universitätsklinikum Freiburg, Germany
Antonella Tosti, University of Miami, USA
Giovanna Zambruno, Istituto Dermopatico dell'Immacolata, Italy

Systemic diseases

Editorial Board Members
Alain Verloes
Anne Slavotinek
Antonella Tosti
Christina Zeitz
Dagmar Wieczorek
Fowzan Alkuraya
Francesc Cardellach
Frits Wijburg
Helena Kääriäinen
Jean-Yves Blay
Jennifer Kalish
Joan-Lluis Vives Corrons
Juan Tovar
Lisa Licitra
Marieke Biegstraaten
Massimo Pandolfo
Matthias Griese
Milan Macek
Robert Anderson
Ronald Sokol
Ute Moog
Vincent Cottin