Junior Editorial Board
Junior Editorial Board Members
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, SD, USA.
Research Interests: X-linked neurodevelopmental diosrders and ubiquitin-related genetic diseases
Research Interests: Genetics & Genomics.
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
Research Interests: Transplant-associated thrombotic microangiopathy (TA-TMA)
Research Interests: Canavan disease
Research Interests: Genetic kidney diseases
Research Interests: Physiopathological functions of neutrophil serine proteinases
Research Interests: Data mining, health care informatics, machine learning, natural language processing
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
Research Interests: Extracellular vesicles, hydrogel, regenerativemedicine, anti-tumor therapy, controlled drug delivery
Research Interests: Genetic and rare diseases research & treatment
Research Interests: Anticancer therapy, kinase Inhibition, proteolysis targeting chimera (PROTAC) development, targeting cell signaling pathways, anti-HIV therapy, enantioselective synthesis
Research Interests: Hereditary spastic paraplegia, spastin, mutation
Research Interests: Developmental neurobiology
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