Editorial Board

37 Editors in 13 Countries/Region

France (11)
United Kingdom (4)
Netherlands (3)
Israel (3)
USA (3)
Switzerland (2)
China (2)
Belgium (2)
Australia (2)
Spain (2)
Germany (1)
Italy (1)
Canada (1)


Daniel Scherman


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


RNA antisense and silencing strategies using synthetic drugs for rare muscular and neuromuscular diseases

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


Mitochondrial neurogastrointestinal encephalomyopathy: approaches to diagnosis and treatment

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

2017-2023: state of the art of gene therapies in rare diseases in Europe: the dynamics of clinical R&D, new approved treatments and expected therapies in the pipelines

Special Issue:

Gene Therapy in Rare Diseases

Matt Bolz-Johnson

SquareRootThinking and EURORDIS - Rare Diseases Europe, Paris, France.

Research Interests: Evaluating cross border access to treatment and healthcare in Europe


The importance of psychological support for parents and caregivers of children with a rare disease at diagnosis

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

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: STAR syndrome, agenesis of corpus callosum, cilia, exome, retinitis pigmentosum

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


Histological and biochemical methods to assess aminoacyl-tRNA synthetase expression in human post-mortem brain tissue

Special Issue:


Carine Giovannangeli

Museum National d'Histoire Naturelle, Inserm, Sorbonne Universités, Paris, France.

Research Interests: Molecular biophysics, biophysics, the biology of nucleic acids

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


IRDiRC: 1000 new rare diseases treatments by 2027, identifying and bringing forward strategic actions

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


Histological and biochemical methods to assess aminoacyl-tRNA synthetase expression in human post-mortem brain tissue

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


Different E-box binding transcription factors, similar neuro-developmental defects: ZEB2 (Mowat-Wilson syndrome) and TCF4 (Pitt-Hopkins syndrome)

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

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

Daniel 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

Special Issue:

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


COVID-19 and rare diseases: reflections and recommendations by the International Rare Diseases Research Consortium

Special Issue:

Newborn Screening I - Real World Applications and Technologies

Newborn Screening II - Policy, Ethics and Patient Perspectives

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


Off-label prescription of medicines: what do we know about the legislation in EU member states?

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.

Rare Disease and Orphan Drugs Journal
ISSN 2771-2893 (Online)
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