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Youth Editorial Board

  • 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.
  • Pediatrics and Rare Diseases Group, Sanford Research, Sioux Falls, South Dakota, United States.
    Research Interests: X-linked neurodevelopmental diosrders and ubiquitin-related genetic diseases
  • Department of Paediatrics & Adolescent Medicine, School of Clinical Medicine, The University of Hong Kong, Hong Kong, China.
    Research Interests: Genetics & Genomics
  • Biochemistry and Molecular Biology Department, Faculty of Farmacy, Complutense University of Madrid, Madrid, Spain.
    Research Interests: Vascular rare diseases and rare carcinomas; drug repurposing
  • INSERM U1211 Rare Diseases, University of Bordeaux, Bordeaux, France.
    Research Interests: Mitochondrial functions; rare diseases
  • Division of Neuromuscular Diseases, Federal University of São Paulo, São Paulo, Brazil.
    Research Interests: Hereditary spastic paraplegia; spastin; mutation
  • Hematology Department-BMT Unit, G. Papanicolaou Hospital, Thessaloniki, Greece.
    Research Interests: Transplant-associated thrombotic microangiopathy (TA-TMA)
  • Department of Neurosurgery, Horae Gene Therapy Center, University of Massachusetts Medical School, United States.
    Research Interests: Canavan disease
  • Nephrology Department, Cliniques universitaires Saint Luc, Brussels, Belgium.
    Research Interests: Genetic kidney diseases
  • 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
  • College of Information Sciences and Technology, Pennsylvania State University, University Park, Pennsylvania, United States.
    Research Interests: Data mining; health care informatics; machine learning; natural language processing
  • Department of Neurological Surgery, College of Medicine, The Ohio State University Wexner Medical Center, Columbus, OH 43210, United States.
    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.
  • Laboratoire Matière et Systèmes Complexes,Université de Paris, Paris, France.
    Research Interests: Extracellular vesicles, hydrogel, regenerativemedicine, anti-tumor therapy, controlled drug delivery
  • Queen's University, Kingston, Ontario, Canada.
    Research Interests: Genetic and rare diseases research & treatment
  • Eppley Institute for Research in Cancer and Allied Diseases, University of Nebraska Medical Center, Omaha, Nebraska , United States.
    Research Interests: Anticancer therapy; kinase Inhibition; proteolysis targeting chimera (PROTAC) development; targeting cell signaling pathways; anti-HIV therapy; enantioselective synthesis
  • Department of Cell Biology, Erasmus MC, Rotterdam, Netherlands.
    Research Interests: Developmental neurobiology
  • Department of Rehabilitation Medicine, Medical School, University of Minnesota, Minneapolis, United States.
    Research Interests: Rare disease (maglinant osteopetrosis & osteopetrorickets; robin sequence; kabuki syndrome); TMJ DJD; biomarker for early diagnosis; pain
  • Department of Medical Genetics, Faculty of Medicine, Istanbul University, Istanbul, Turkey.
    Research Interests: Clinical genetics; neurogenetics; rare diseases
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