Junior Editorial Board

Junior Editorial Board Members

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.

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

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

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

Rare Disease and Orphan Drugs Journal
ISSN 2771-2893 (Online)
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