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Editorial Board

Editor-in-Chief

  • Daniel Scherman
    daniel.scherman@fondation-maladiesrares.com
    Laboratory of Chemical and Biological Technology for Health, Paris University, Pharmacy Faculty, 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

  • Jacques S Beckmann, PhD
    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

  • Shoumo Bhattacharya
    RDM Cardiovascular Medicine, Wellcome Centre for Human Genetics, University of Oxford, Oxford, United Kingdom.
    Research Interests: The development of anti-inflammatory peptide therapeutics isolated from tick saliva that may have applications to myocarditis, post-myocardial infarction injury and myocardial fibrosis.
  • Olivier Blin
    Service de pharmacologie clinique et pharmacovigilance, Aix Marseille Université, AP-HM, Orphandev-FCRIN, INSERM, Marseille, France.
    Research Interests: Neurodegenerative disorders and aging
  • Matt Bolz-Johnson
    SquareRootThinking and EURORDIS - Rare Diseases Europe, Paris, France.
  • 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
  • Guillaume Canaud
    Department of Nephrology-Transplantation, Necker Hospital, APHP, Paris, France.
    Research Interests: Podocyte biology; Translational medicine; Hypergrowth syndromes; Nephrology
  • Manuel P. 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; Health; Autism
  • 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.
  • Carine Giovannangelli
    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
  • Gary D. 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
  • 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
  • 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, United Kingdom.
  • David A. Pearce
    Department of Pediatrics, Sanford School of Medicine, University of South Dakota, Sioux Falls, South Dakota, United States.
    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
  • 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, Connecticut, United States.
    Research Interests: Precision Medicine; Bioinformatics; Computational Biology; Genetics And Genomics.
  • 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
  • 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.
  • Joris A. Veltman
    Biosciences Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, United Kingdom.
    Research Interests: Genomics technology; Male infertility genetics; Translational genomics; Personalised medicine
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