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Youth Editorial Board

  • Sandra Arduim Brasil
    CDG & Allies—Professionals and Patient Associations International Network ; UCIBIO – Applied Molecular Biosciences Unit, Associate Laboratory i4HB - Institute for Health and Bioeconomy; Department of Life Sciences, School of Science and Technology, NOVA University Lisbon, Caparica, Portugal.
    Research Interests: Patient centric research for therapy development for rare diseases
  • Francisco Bustos
    Pediatrics and Rare Diseases Group, Sanford Research, Sioux Falls, SD, USA.
    Research Interests: X-linked neurodevelopmental diosrders and ubiquitin-related genetic diseases
  • Brian Hon-Yin Chung
    Department of Paediatrics & Adolescent Medicine, School of Clinical Medicine, The University of Hong Kong, Hong Kong, China.
    Research Interests: Genetics & Genomics
    Special Issue:
  • Angel Cuesta
    Biochemistry and Molecular Biology Department, Faculty of Farmacy, Complutense University of Madrid, Madrid, Spain.
    Research Interests: Vascular rare diseases and rare carcinomas; drug repurposing
  • Laetitia Dard
    INSERM U1211 Rare Diseases, University of Bordeaux, Bordeaux, France.
    Research Interests: Mitochondrial functions; rare diseases
  • Eleni Gavriilaki
    Hematology Department-BMT Unit, G. Papanicolaou Hospital, Thessaloniki, Greece.
    Research Interests: Transplant-associated thrombotic microangiopathy (TA-TMA)
  • Dominic Gessler
    Department of Neurosurgery, Horae Gene Therapy Center, University of Massachusetts Medical School, Worcester, MA, USA.
    Research Interests: Canavan disease
  • Valentine Gillion
    Nephrology Department, Cliniques universitaires Saint Luc, Brussels, Belgium.
    Research Interests: Genetic kidney diseases
  • Brice Korkmaz
    Chair of International Cathepsin-C Consortium (ICat-CC), INSERM UMR-1100, Centre d’Etude des Pathologies Respiratoires, Université de Tours, Tours, France.
    Research Interests: Physiopathological functions of neutrophil serine proteinases
    Contributions:
    Special Issue:
  • Fenglong Ma
    College of Information Sciences and Technology, Pennsylvania State University, University Park, PA, USA.
    Research Interests: Data mining; health care informatics; machine learning; natural language processing
  • Lluis Samaranch
    Department of Neurological Surgery, College of Medicine, The Ohio State University Wexner Medical Center, Columbus, OH, USA.
    Research Interests: Gene therapy; adeno-associated virus; stereotactic surgery; convection enhanced delivery; neurodegeneration; brain delivery devices; niemann-pick disease; lysosomal storage disorders; parkinson’s disease; alzheimer’s disease
    Contributions:
  • Amanda K. A. Silva
    Laboratoire Matière et Systèmes Complexes,Université de Paris, Paris, France.
    Research Interests: Extracellular vesicles; hydrogel; regenerativemedicine; anti-tumor therapy; controlled drug delivery
  • Kshitiz Singh
    Queen's University, Kingston, Ontario, Canada.
    Research Interests: Genetic and rare diseases research & treatment
  • Sarbjit Singh
    Eppley Institute for Research in Cancer and Allied Diseases, University of Nebraska Medical Center, Omaha, NE, USA.
    Research Interests: Anticancer therapy; kinase Inhibition; proteolysis targeting chimera (PROTAC) development; targeting cell signaling pathways; anti-HIV therapy; enantioselective synthesis
  • Paulo Victor Sgobbi Souza
    Division of Neuromuscular Diseases, Federal University of São Paulo, São Paulo, Brazil.
    Research Interests: Hereditary spastic paraplegia; spastin; mutation
  • Debbie van den Berg
    Department of Cell Biology, Erasmus MC, Rotterdam, Netherlands.
    Research Interests: Developmental neurobiology
  • Liang Ye
    Department of Rehabilitation Medicine, Medical School, University of Minnesota, MN, USA.
    Research Interests: Rare disease (maglinant osteopetrosis & osteopetrorickets; robin sequence; kabuki syndrome), TMJ DJD, biomarker for early diagnosis, pain
  • Gozde Yesil
    Department of Medical Genetics, Faculty of Medicine, Istanbul University, Istanbul, Turkey.
    Research Interests: Clinical genetics; neurogenetics; rare diseases
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