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
  • 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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