Editorial Board

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

Deputy Editor-in-Chief
Brett J. Bordini, MD, Medical College of Wisconsin, USA
 

Managing Editor
Jordi Pijuan, PhD, Hospital Sant Joan de Déu Barcelona y CIBERER, Spain

Advisory Board Member
Kathleen Bogart, PhD, Oregon State University, USA
Andrew Gennery, MD, MRCP, FRCPCH, DCH, Dip Med Sci, Newcastle University, UK

SECTIONS

Bone Diseases/ Skeletal Dysplasias
Lead Section Editor:
Nan Wu, MD, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, China
Section Editors:
Heidi Arponen, DDS, PhD, University of Helsinki, Finland
Klaus Mohnike, MD, Otto-von-Guericke Universität, Germany

Cardiovascular diseases
Section Editors:
Ruxandra Jurcut, MD, PhD, University of Medicine and Pharmacy Carol Davila, Romania
Antoni Riera-Mestre, MD, PhD, Hospital Universitari de Bellvitge, Spain

Clinical Genetics and Developmental Disorders
Lead Section Editor:
Donald Basel, MBBCh, FACMG, Medical College of Wisconsin, USA
Section Editors:
Lauren Akesson, MBBS (Hons), PhD, FRACP, FRCPA, University of Melbourne, Australia
Santasree Banerjee, PhD, Jilin University, China
Gunadi, MD, PhD, Pediatric Surgeon (Consultant), Universitas Gadjah Mada/Dr. Sardjito Hospital, Yogyakarta, Indonesia
Saumya Shekhar Jamuar, MBBS, MRCPCH (UK), KK Women's and Children's Hospital, Singapore
Sajid Malik, PhD, Quaid-i-Azam University, Pakistan
Angela Peron, MD, PhD, Meyer Children’s Hospital IRCCS, Università degli Studi di Firenze, Italy
Nara Sobreira, MD, PhD, Johns Hopkins University, US
Duangrurdee Wattanasirichaigoon, MD, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Thailand

Coagulation Diseases and Anemias
Lead Section Editor:
Maria del Mar Mañú Pereira, PhD, Vall d’Hebron Research Institute, Spain
Section Editors:
Flora Peyvandi, MD, PhD, University of Milan, Italy

Dental Pathologies
Section Editors:
Berdal Ariane, DDS-PhD, Inserm Université Paris-Cité. France
Yeliz Guven, PhD, Istanbul University, Turkey
Thorakkal Shamim, BDS, MDS, Government General Hospital, Manjeri, India
 

Endocrinological Diseases
Lead Section Editor:
Bruno Donadille, MD, Hôpital Saint Antoine, France
Section Editors:
Maria Luisa Brandi, MD, PhD, Università degli Studi di Firenze, Italy
Xiaomu Kong, PhD, China-Japan Friendship Hospital, China
Marina Tsoli, MD, PhD, EKPA-Laiko ENETS CoE, Laiko University Hospital, Athens, Greece
 

Epidemiology/Registries
Lead Section Editor:
Isaac Aranda Reneo, PhD, University of Castilla-La Mancha, Spain
 

Health Planning/ Health Services/ Quality of Life/ Health Economics/ Orphan Drugs
Lead Section Editor:
Isaac Aranda Reneo, PhD, University of Castilla-La Mancha, Spain
Section Editors:
Mikel Berdud, PhD, The Office of Heath Economics, UK
Peikai Chen, PhD, The University of Hong Kong-Shenzhen Hospital; The University of Hong Kong, China
Marc Dooms, Pharm D, University Hospitals Leuven, Belgium
Katy Gallop, MSc, Acaster Lloyd Consulting, UK
Anneliene Jonker, PhD, University of Twente, The Netherlands
Panos Kanavos, PhD, London School of Economics, UK
Nor Azian Abdul Murad, PhD, UKM Medical Molecular Biology Institute, Malaysia
Rosa Rodriguez-Monguio, MS, PhD, University of California, San Francisco, USA
Georgi Iskrov, MSc (Hons), PhD, Medical University of Plovdiv, Bulgaria
Wei Wang, MD, PhD, FFPH, FRSB, FRSM, Edith Cowan University, Australia

Gastrointestinal Diseases
Section Editors:
Sumantra Chatterjee, PhD, NYU Langone Health, USA

Hematology
Lead Section Editor:
Maria del Mar Mañú Pereira, PhD, Vall d’Hebron Research Institute, Spain
Section Editors:
Gaurav Goyal, MD, University of Alabama at Birmingham, USA

Hepatology

Immune Deficiencies
Section Editors:
Guilherme Cançado, MSc, PhD, MD, Universidade Federal de Minas Gerais, Brazil
Mahnaz Jamee, MD, Leiden University Medical Center, Netherlands
Gaafar Ragab, MSc, PhD, Faculty of Medicine, Cairo University, Egypt
Anna Shcherbina, MD, PhD, Dmitry Rogachev National Medical Center of Pediatric Hematology, Oncology and Immunology, Russia
Yini Wang, MD, PhD, Beijing Friendship Hospital, Capital Medical University, China

Inherited Metabolic Diseases
Lead Section Editor:
Iain Hargreaves, PhD, Liverpool John Moores University and National Hospital, UK
Section Editors:
Sunita Bijarnia-Mahay, DCH, DNB(Ped), Fellowship IMD, Sir Ganga Ram Hospital, New Delhi, India
M. Estela Rubio-Gozalbo, MD, PhD, Maastricht University Medical Center, The Netherlands
Frederic Tort, PhD, Hospital Clínic Barcelona, IDIBAPS, CIBERER, University of Barcelona, Spain

Internal Medicine, Adult
Lead Section Editor:
Ertugrul Cagri Bolek, MD, MSc, Hacettepe University, Turkey
 

Internal Medicine, Pediatry
Lead Section Editor:
Ertugrul Cagri Bolek, MD, MSc, Hacettepe University, Turkey
 

Kidney Diseases
Section Editors:
Olivier Devuyst, MD, PhD, University of Zurich, Switzerland
Shih-Hua Lin, MD, Tri-Service General Hospital, Taiwan
Tomasz Stompór, MD, PhD, University of Warmia and Mazury in Olsztyn, Poland
Gere Sunder-Plassmann, MD, Medical University Vienna, Austria
 

Lysosomal Storage Diseases
Section Editors:
Alessandro Luciani, PhD, University of Zurich, Switzerland
Agnieszka Ługowska, PhD, Institute of Psychiatry and Neurology, Dept. of Genetics, Poland
Ben Pode-Shakked, MD, Tel-Aviv University, Israel
Jakub Sikora, MD, PhD, Department of Paediatrics and Inherited Metabolic Disorders, Charles University, First Faculty of Medicine,
Czech Republic
Karolina Stepien, MD, PhD, Salford Royal Organisation, Northern Care Alliance NHS Foundation Trust, UK
 

Mitochondrial Diseases
Lead Section Editor:
Iain Hargreaves, PhD, Liverpool John Moores University and National Hospital, UK
Section Editors:
Hezhi Fang, MD, PhD, Zhejiang Provincial Key Laboratory of Medical Genetics, China
Daniele Ghezzi, PhD, Fondazione I.R.C.C.S. Istituto Neurologico Carlo Besta - University of Milan, Italy 
 

Neurologic Diseases, Adult
Section Editors:
Kazuo Abe, MD, Hyogo College of Medicine, Japan 
Elizabeth McNeil, MD MSc, NIH, USA
Francesca Trojsi, MD, PhD, University of Campania "Luigi Vanvitelli", Italy
Bryn Webb, MD, Icahn School of Medicine at Mount Sinai, USA
 

Neurologic Diseases, Pediatric
Section Editors:
Rima Nabbout, MD, PhD, Hôpital Necker Enfants Maladesdisabled, France
 

Neuromuscular diseases, adult
Lead Section Editor:
Daniel Natera de Benito, MD, PhD, Hospital Sant Joan de Déu, Spain
Section Editors:
Xin-Ming Shen, PhD, Mayo Clinic, USA
 

Neuromuscular Diseases, Pediatric
Lead Section Editor:
Daniel Natera de Benito, MD, PhD, Hospital Sant Joan de Déu, Spain
Section Editors:
Partha Ghosh, MD, Boston Children's Hospital, USA
Janbernd Kirschner, MD, University Medical Center Freiburg, Germany
 

Obstetrics and Gynecology
Section Editors:
Andrea Giannini, MD, PhD, Sapienza University, Italy
Ferdinando Antonio Gulino, MD, University of Messina, Italy
Guglielmo Stabile , MD, PhD, Department of Medical and Surgical Sciences, Institute of Obstetrics and Gynecology, University of Foggia, Italy

Oncology, Adult
Section Editors:
Payal Khincha, MD, National Institutes of Health, USA
 

Oncology, Pediatric
Section Editors:
Bernadette Brennan, MD, Royal Manchester Children's Hospital, UK
Andrea Di Cataldo, MD, PhD, Università degli Studi di Catania, Italy
 

Ophthalmological Diseases
Section Editors:
Isabelle Audo, MD, PhD, INSERM, France
Samantha de Silva, MA (Cantab), BMBCh, MRCP, FRCOphth, DPhil, Oxford University Hospitals NHS Foundation Trust, UK
Stephen H Tsang, MD, PhD, Columbia University, USA
 

Other
 

Otorhinolaryngology
Section Editors:
Alvaro Gallego-Martinez, Biosanitary Research Institute of Granada (ibs.GRANADA), Spain
Makoto Hosoya, Keio University, School of Medicine, Japan
 

Pulmonary Diseases
Section Editors:
Raphael borie, MD, PhD, Hopital Bichat APHP, UNiversité Paris Cité, France
Francisco Dasí, PhD, University of Valencia. School of Medicine. Department of Physiology. IIS INCLIVA., Spain
Xiaowen Hu, MD, University of Science and Technology of China, China
Kai-Feng Xu, MD, Peking Union Medical College Hospital, China

 

Rheumatological Diseases, Adult 
Lead Section Editor:
Ertugrul Cagri Bolek, MD, MSc, Hacettepe University, Turkey
Section Editors:
Agnes Kocher, PhD, Universität Basel, Switzerland
Giuseppe Lopalco, MD, University of Bari, Italy
 

Rheumatological Diseases, Pediatric 
Lead Section Editor:
Ertugrul Cagri Bolek, MD, MSc, Hacettepe University, Turkey
Section Editors:
Frank Dressler, MD, Hannover Medical School, Germany
 

Skin Diseases
Section Editors:
Cristina Has, MD, Universitätsklinikum Freiburg, Germany
Giovanna Zambruno, MD, Istituto Dermopatico dell'Immacolata, Italy
 

Systemic diseases
Lead Section Editor:
Ertugrul Cagri Bolek, MD, MSc, Hacettepe University, Turkey

Editorial Board Members
Alain Verloes, MD, PhD, Hôpital Robert DEBRE, France
Christina Zeitz PhD DR2, INSERM, CNRS, Sorbonne University, Institut de la Vision, Department of Genetics, Institut de la Vision, Paris, France
Dagmar Wieczorek, MD, Institute of Human Genetics, Medical Faculty and University Hospital, Düsseldorf, Germany
Fowzan Alkuraya, MD, KFSHRC, Saudi Arabia
Francesc Cardellach, MD, University of Barcelona School of Medicine, Spain
Frits Wijburg, MD, PhD, Academic Medical Center, The Netherlands
Helena Kääriäinen, MD, PhD, National Institute for Health and Welfare, Finland
Jean-Yves BLAY, MD, PhD,  Centre  Leon  Berard & University Lyon I,  Lyon, France
Jennifer Kalish, MD, PhD, University of Pennsylvania, USA
Juan Tovar, MD, PhD, University Hospital La Paz, Spain
Lisa Licitra, MD, Istituto Nazionale Tumori, Italy
Massimo Pandolfo, MD, Université Libre de Bruxelles, Belgium
Matthias Griese, MD, Ludwig-Maximilians University of Munich, Germany
Milan Macek, MD, DSc, Charles University and Motol University Hospital, Czech Republic
Robert Anderson, MD, PhD, University College London, UK
Ronald Sokol, MD, FAASLD, University of Colorado School of Medicine, USA
Vincent Cottin, MD, PhD, Hopital L Pradel, France
Elzbieta Radzikowska, MD, PhD, Instytut Gruźlicy i Chorób Płuc, Poland