Editorial Board
43 Editors in 14 Countries/Regions
Editor-in-Chief
Daniel Scherman 
daniel.scherman@fondation-maladiesrares.com Laboratory of Chemical and Biological Technology for Health, Pharmacy Faculty, Paris University, Paris, France.
Fondation Maladies Rares - Foundation for Rare Diseases, Paris, France.
Research Interests: Bioenergetics, neuropharmacology and neurodegenerative diseases, gene therapy, the quantification of dopaminergic neuronal death in Parkinson's disease
Section Editor
Mariko Harada-Shiba
Cardiovascular Center, Osaka Medical and Pharmaceutical University, Takatsuki, Japan
Research Interests: Dyslipidemia, Familial hypercholesterolemia, Dyslipidemia intractable disease
Associate Editors
Jacques S Beckmann
Faculty of Biology and Medicine, University of Lausanne, Lausanne, Switzerland.
Research Interests: Statistical genetics, monogenic diseases, rare genetic variants in common pathologies
Tao Duan
Clinical and Translational Research Center, Shanghai First Maternity and Infant Hospital, Tongji University School of Medicine, Shanghai, China.
Department of Obstetrics, Shanghai First Maternity and Infant Hospital, Tongji University School of Medicine, Shanghai, China.
Research Interests: Preeclampsia, PPH, preterm birth, NIPT, DOHaD
Editorial Board Members
Bridget Bax
Cell Biology Section, Molecular & Clinical Sciences Research Institute, St George's University of London, London, UK.
Research Interests: Rare diseases, biomarkers, cell therapies, enzyme replacement, mitochondrial neurogastrointestinal encephalomyopathy (MNGIE), molecular basis of disease
Shoumo Bhattacharya
RDM Cardiovascular Medicine, Wellcome Centre for Human Genetics, University of Oxford, Oxford, UK.
Research Interests: Effects of anti-inflammatory peptides isolated from tick saliva on myocarditis, post-myocardial infarction injury and myocardial fibrosis
Olivier Blin
Service de Pharmacologie Clinique et Pharmacovigilance, Aix-Marseille University, AP-HM, Orphandev-FCRIN, INSERM, Marseille, France.
Research Interests: Neurodegenerative disorders and aging
Rare diseases: specific challenges for sustainable accessibility of treatments for patients
Matt Bolz-Johnson
SquareRootThinking and EURORDIS - Rare Diseases Europe, Paris, France.
Research Interests: Evaluating cross border access to treatment and healthcare in Europe
Han G. Brunner
Department of Human Genetics and Donders Center for Neuroscience, Radboud University Medical Centre, Nijmegen, The Netherlands.
Research Interests: Mental disabilities and congenital defects, genetic testing
Ana Buj-Bello
Genethon, INSERM, Université Evry Val-d’Essone, Université Paris-Saclay, Evry, France.
Research Interests: Gene therapy for myotubular myopathy, inherited neuromuscular diseases
Gillian Butler-Browne
Institut de Myologie, Hôpital Pitié-Salpétrière, Paris, France.
Research Interests: Human muscle development, muscle stem cells, ageing, physiopathology and therapy
Hon Yin Brian Chung
Department of Paediatrics & Adolescent Medicine, School of Clinical Medicine, The University of Hong Kong, Hong Kong, China.
Research Interests: Medical application of whole genome technologies, Clinical genetics & genetic counselling, Multiomics & human diseases
Marc Dooms
University Hospitals Leuven, Leuven, Belgium.
Research Interests: Orphan drugs, pharmaceutical compounding, advanced therapy medicinal products, off-label use, hospital exemption, orphan devices
Orly Elpeleg
Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel.
Research Interests:
Dominik Fröhlich
Translational Neuroscience Facility and Department of Physiology, School of Medical Sciences, University of New South Wales, Sydney, New South Wales, Australia.
Research Interests: Adeno associated virus, virus capsid, genetic therapy
Carine Giovannangeli
Museum National d'Histoire Naturelle, Inserm, Sorbonne Universités, Paris, France.
Research Interests: Molecular biophysics, biophysics, the biology of nucleic acids
Minxin Guan
Department of Molecular Genetics, University of Toronto; Institute of Genetics, Zhejiang University, Hangzhou, China
Research Interests: Mitochondrial Diseases; Leber's Hereditary Optic Neuropathy; Aberrant Mitochondrial tRNA Metabolisms
Salima Hacein-Bey-Abina
Faculté de Pharmacie de Paris, Université de Paris, Paris, France.
Research Interests: Severe immunodeficiencies, immunology, heritable diseases and rare diseases in gene therapy, immunodeficiency
Ayal Hendel
The Mina and Everard Goodman Faculty of Life Sciences, Advanced Materials and Nanotechnology Institute, Bar-Ilan University, Ramat Gan, Israel.
Research Interests: Genome editing, biotechnology, genetic therapy, genetic engineering, developing CRISPR technology as a method of gene therapy for genetic diseases
Virginie Hivert
EURORDIS-Rare Diseases Europe, Paris, France.
Research Interests: Pathophysiological pathways in oncology
Gary Housley
Translational Neuroscience Facility and Department of Physiology, School of Medical Sciences, Faculty of Medicine, University of New South Wales, Sydney, New South Wales, Australia.
Research Interests: Neurology and neuromuscular diseases, animal physiology - cell, central nervous system, peripheral nervous system, autonomic nervous system, rehabilitation and therapy: hearing and speech, receptors and membrane biology, neurogenetics, sensory systems, neurodegenerative disorders related to ageing
Taosheng Huang
Institute of Medical Genetics and Genomics, Fudan University, Shanghai, China
Research Interests: Mitochondrial Disorders; Mitochondrial Replacement Therapy; Genetic Disease
Danny Huylebroeck
Department of Cell Biology, Erasmus University Medical Centre, Rotterdam, The Netherlands.
Research Interests: Developmental biology, cell differentiation, TGFbeta family signaling, stem cell research, mouse models
Reena Kartha
Center for Orphan Drug Research, University of Minnesota, MN, USA.
Research Interests: Role of oxidative stress and inflammation in inherited metabolic disorders, experimental & clinical pharmacology, biomarker discovery, drug repurposing
Joe N. Kornegay
Departments of Veterinary Integrative Biosciences and Veterinary Pathobiology, College of Veterinary Medicine & Biomedical Sciences, Texas A&M University, College Station, TX, USA
Research Interests: Comparative neurology, neuropathology, and myopathology; animal models; functional testing; transverse imaging (MRI and CT)
Peter M. Krawitz
Institute for Genomic Statistics and Bioinformatics, University of Bonn, Bonn, Germany.
Research Interests: Genetic engineering, next generation sequencing, genomics, mutation, cancer biology, biophysics, genetic epidemiology, whole exome sequencing, molecular Genetics
Pierre LEVY
Université Paris-Dauphine, PSL Research University, Paris, France.
Research Interests: Economics and health management, evaluations of therapeutic strategies
Bai Lu
School of Pharmaceutical Sciences, Tsinghua University, Beijing, China.
Research Interests: Neural circuits underlying cognitive functions, neurodegenerative and psychiatric diseases, translational medicine, molecular pathways underlying synaptic function and neural repairs
David L. Mack
Institute for Stem Cell and Regenerative Medicine, Department of Rehabilitation Medicine, University of Washington, Seattle, WA, USA.
Research Interests: AAV-mediated gene transferring, CRISPR gene-editing
Daniel J. O’Connor
Medicines and Healthcare Products Regulatory Agency, Canary Wharf, London, UK.
Research Interests: Rare diseases, regulatory science, health innovation, patient engagement, oncology, histopathology, EAMS and ILAP
A landscape map of the key global rare disease organizations
A Landscape Map of the Key Global Rare Disease Organisations
David Pearce
Department of Pediatrics, Sanford School of Medicine, University of South Dakota, Sioux Falls, SD, USA.
Research Interests: Pediatrics and rare diseases, the molecular basis of inherited pediatric neurodegenerative diseases, the infantile, late infantile and juvenile onset forms of batten disease, batten disease
Yves Pirson
Division of Nephrology, Cliniques Universitaires Saint-Luc, Université Catholique de Louvain, Brussels, Belgium.
Research Interests: Genetic kidney disease
Manuel Posada de la Paz
Institute of Rare Diseases Research (IIER), Instituto de Salud Carlos III, Madrid, Spain.
Research Interests: Rare diseases, public health, epidemiology, cardiovascular, risk, autism
Aurora Pujol
Catalan Institution of Research and Advanced Studies (ICREA), Barcelona, Catalonia, Spain.
Research Interests: Clinical genomics, integrative multiomics, systems neuroscience, rare disease, leukodystrophies, adrenoleukodystrophy, disease modeling
Annick Raas-Rothschild
The Institute for Rare Diseases, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Ramat Gan, Israel.
Research Interests: National coordinator of orphanet-israel
Peter N. Robinson
The Jackson Laboratory for Genomic Medicine, Farmington, CT, USA.
Research Interests: Precision medicine, bioinformatics, computational biology, genetics and genomics
Rodrigue Rossignol
INSERM U1211 Rare Diseases, Genetics and Metabolism, University of Bordeaux, Bordeaux, France.
Research Interests: Cellular bioenergetics in human physiology and pathology
Violeta Stoyanova-Beninska
Medicines Evaluation Board, Utrecht, The Netherlands.
Research Interests: Orphan regulation in EU, orphan medicinal products, rare diseases, clinical genetics, molecular genetics, epigenetics, psychiatry, neurology, neurobiology, regulatory science, scientific advice
Domenica Taruscio
National Centre for Rare Diseases, Istituto Superiore di Sanità, Rome, Italy.
Research Interests: Orphan drug production, genetic testing, newborn screening
Gabriele Thumann
Division of Ophthalmology, Department of Clinical Neurosciences, Geneva University Hospitals, Geneva, Switzerland.
Research Interests: Retinal implant, retina ganglion cell, retinitis pigmentosa, mass drug administration
Capucine Trollet
Sorbonne Université, INSERM, Association Institut de Myologie, Centre de Recherche en Myologie, Paris, France.
Research Interests: Gene and cell therapy, muscular dystrophy
Joris A. Veltman
Biosciences Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.
Research Interests: Genomics technology, male infertility genetics, translational genomics, personalised medicine
Durhane Wong-Rieger
Canadian Organization for Rare Disorders, Toronto, Ontario, Canada.
Research Interests: Advocacy organizations, patient advocacy, drug industry, biobank, exome, genetic testing
All members of the Editorial Board have identified their affiliated institutions or organizations, along with the corresponding country or geographic region. OAE Publishing Inc. remains neutral with regard to any jurisdictional claims.
