Hot Keywords
rare disease orphan drug


Editorial Board


  • 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.

Associate Editor

  • Faculty of Biology and Medicine, University of Lausanne, Lausanne, Switzerland.
    Research Interests: Statistical genetics, monogenic diseases, rare genetic variants in common pathologies

Editorial Board Members

  • 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.
  • 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.
  • Service de pharmacologie clinique et pharmacovigilance, Aix-Marseille University, AP-HM, Orphandev-FCRIN, INSERM, Marseille, France.
    Research Interests: Neurodegenerative disorders and aging.
  • SquareRootThinking and EURORDIS - Rare Diseases Europe, Paris, France.
    Research Interests: Evaluating cross border access to treatment and healthcare in Europe.
  • 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
  • Genethon, INSERM, Université Evry Val-d’Essone, Université Paris-Saclay, Evry, France.
    Research Interests: Gene therapy for myotubular myopathy, inherited neuromuscular diseases.
  • Institut de Myologie, Hôpital Pitié-Salpétrière, Paris, France.
    Research Interests: Human muscle development, muscle stem cells, ageing, physiopathology and therapy
  • Department of Nephrology-Transplantation, Necker Hospital, APHP, Paris, France.
    Research Interests: Podocyte biology, translational medicine, hypergrowth syndromes, nephrology.
  • University Hospitals Leuven, Leuven, Belgium.
    Research Interests: Orphan drugs; pharmaceutical compounding; advanced therapy medicinal products; off-label use; hospital exemption; orphan devices
  • Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel.
    Research Interests: STAR syndrome, agenesis of corpus callosum, cilia, exome, retinitis pigmentosum.
  • 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.
    Special Issue:
  • Museum National d'Histoire Naturelle, Inserm, Sorbonne Universités, Paris, France.
    Research Interests: Molecular biophysics, biophysics, the biology of nucleic acids.
  • Faculté de Pharmacie de Paris, Université de Paris, Paris, France.
    Research Interests: Severe immunodeficiencies, immunology, heritable diseases and rare diseases in gene therapy, immunodeficiency.
  • 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.
  • EURORDIS-Rare Diseases Europe, Paris, France.
    Research Interests: Pathophysiological pathways in oncology.
  • 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.
  • 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.
  • 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
  • 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.
  • Université Paris-Dauphine, PSL Research University, Paris, France.
    Research Interests: Economics and health management, evaluations of therapeutic strategies.
  • 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.
  • 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.
  • 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.
  • Division of Nephrology, Cliniques Universitaires Saint-Luc, Université Catholique de Louvain, Brussels, Belgium.
    Research Interests: Genetic kidney disease
  • Institute of Rare Diseases Research (IIER), Instituto de Salud Carlos III, Madrid, Spain.
    Research Interests: Rare diseases, public health, epidemiology, cardiovascular, risk, autism.
  • 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.
  • 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.
  • The Jackson Laboratory for Genomic Medicine, Farmington, CT, USA.
    Research Interests: Precision medicine, bioinformatics, computational biology, genetics and genomics.
  • INSERM U1211 Rare Diseases, Genetics and Metabolism, University of Bordeaux, Bordeaux, France.
    Research Interests: Cellular bioenergetics in human physiology and pathology.
  • 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.
  • National Centre for Rare Diseases, Istituto Superiore di Sanità, Rome, Italy.
    Research Interests: Orphan drug production, genetic testing, newborn screening.
  • Division of Ophthalmology, Department of Clinical Neurosciences, Geneva University Hospitals, Geneva, Switzerland.
    Research Interests: Retinal implant, retina ganglion cell, retinitis pigmentosa, mass drug administration.
  • Sorbonne Université, INSERM, Association Institut de Myologie, Centre de Recherche en Myologie, Paris, France.
    Research Interests: Gene and cell Therapy, muscular dystrophy
  • Biosciences Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.
    Research Interests: Genomics technology, male infertility genetics, translational genomics, personalised medicine.
  • Canadian Organization for Rare Disorders, Toronto, Ontario, Canada.
    Research Interests: Advocacy organizations; patient advocacy; drug industry; biobank; exome; genetic testing
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