Editorial Board Members
Cell Biology Section, Molecular & Clinical Sciences Research Institute, St George's University of London, London, UK.
Research Interests: Rare diseases, biomarkers, cell therapies, enzyme replacement, mitochondrial neurogastrointestinal encephalomyopathy (MNGIE), molecular basis of disease
Research Interests: Rare diseases, biomarkers, cell therapies, enzyme replacement, mitochondrial neurogastrointestinal encephalomyopathy (MNGIE), molecular basis of disease
Service de Pharmacologie Clinique et Pharmacovigilance, Aix-Marseille University, AP-HM, Orphandev-FCRIN, INSERM, Marseille, France.
Research Interests: Neurodegenerative disorders and aging
Research Interests: Neurodegenerative disorders and aging
SquareRootThinking and EURORDIS - Rare Diseases Europe, Paris, France.
Research Interests: Evaluating cross border access to treatment and healthcare in Europe
Research Interests: Evaluating cross border access to treatment and healthcare in Europe
Genethon, INSERM, Université Evry Val-d’Essone, Université Paris-Saclay, Evry, France.
Research Interests: Gene therapy for myotubular myopathy, inherited neuromuscular diseases
Research Interests: Gene therapy for myotubular myopathy, inherited neuromuscular diseases
Institut de Myologie, Hôpital Pitié-Salpétrière, Paris, France.
Research Interests: Human muscle development, muscle stem cells, ageing, physiopathology and therapy
Research Interests: Human muscle development, muscle stem cells, ageing, physiopathology and therapy
Department of Paediatrics & Adolescent Medicine, School of Clinical Medicine, The University of Hong Kong, Hong Kong, China.
Research Interests: Medical application of whole genome technologies, Clinical genetics & genetic counselling, Multiomics & human diseases
Research Interests: Medical application of whole genome technologies, Clinical genetics & genetic counselling, Multiomics & human diseases
University Hospitals Leuven, Leuven, Belgium.
Research Interests: Orphan drugs, pharmaceutical compounding, advanced therapy medicinal products, off-label use, hospital exemption, orphan devices
Research Interests: Orphan drugs, pharmaceutical compounding, advanced therapy medicinal products, off-label use, hospital exemption, orphan devices
Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel.
Research Interests: STAR syndrome, agenesis of corpus callosum, cilia, exome, retinitis pigmentosum
Research Interests: STAR syndrome, agenesis of corpus callosum, cilia, exome, retinitis pigmentosum
Baylor College of Medicine, Houston, USA.
Research Interests: Neural tube defects, gene-environment interactions, folate metabolism, embryonic development, congenital anomalies
Research Interests: Neural tube defects, gene-environment interactions, folate metabolism, embryonic development, congenital anomalies
Translational Neuroscience Facility and Department of Physiology, School of Medical Sciences, University of New South Wales, Sydney, New South Wales, Australia.
Research Interests: Adeno associated virus, virus capsid, genetic therapy
Research Interests: Adeno associated virus, virus capsid, genetic therapy
Museum National d'Histoire Naturelle, Inserm, Sorbonne Universités, Paris, France.
Research Interests: Molecular biophysics, biophysics, the biology of nucleic acids
Research Interests: Molecular biophysics, biophysics, the biology of nucleic acids
Department of Molecular Genetics, University of Toronto; Institute of Genetics, Zhejiang University, Hangzhou, China
Research Interests: Mitochondrial Diseases; Leber's Hereditary Optic Neuropathy; Aberrant Mitochondrial tRNA Metabolisms
Research Interests: Mitochondrial Diseases; Leber's Hereditary Optic Neuropathy; Aberrant Mitochondrial tRNA Metabolisms
Biomedical Sciences College & Shandong Medicinal Biotechnology Centre, Shandong First Medical University & Shandong Academy of Medical Sciences, Jinan, Shandong, China.
Research Interests: Rare disease prevention, orphan drug development, rare disease legislation, rare disease molecular biology
Research Interests: Rare disease prevention, orphan drug development, rare disease legislation, rare disease molecular biology
Cardiovascular Center, Osaka Medical and Pharmaceutical University, Takatsuki, Japan
Research Interests: Dyslipidemia, Familial hypercholesterolemia, Dyslipidemia intractable disease
Research Interests: Dyslipidemia, Familial hypercholesterolemia, Dyslipidemia intractable disease
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
Research Interests: Genome editing, biotechnology, genetic therapy, genetic engineering, developing CRISPR technology as a method of gene therapy for genetic diseases
EURORDIS-Rare Diseases Europe, Paris, France.
Research Interests: Pathophysiological pathways in oncology
Research Interests: Pathophysiological pathways in oncology
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 aging
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 aging
Institute of Medical Genetics and Genomics, Fudan University, Shanghai, China
Research Interests: Mitochondrial Disorders; Mitochondrial Replacement Therapy; Genetic Disease
Research Interests: Mitochondrial Disorders; Mitochondrial Replacement Therapy; Genetic Disease
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
Research Interests: Developmental biology, cell differentiation, TGFbeta family signaling, stem cell research, mouse models
Center for Orphan Drug Research, University of Minnesota, MN, USA.
Research Interests: Role of oxidative stress and inflammation in inherited metabolic disorders, experimental & clinical pharmacology, biomarker discovery, drug repurposing
Research Interests: Role of oxidative stress and inflammation in inherited metabolic disorders, experimental & clinical pharmacology, biomarker discovery, drug repurposing
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
Research Interests: Genetic engineering, next generation sequencing, genomics, mutation, cancer biology, biophysics, genetic epidemiology, whole exome sequencing, molecular Genetics
Urology and Andrology, Department of Urology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.
Research Interests: Kallmann Syndrome, Erectile Disfunction, Male infertility, Urinary Calculi
Research Interests: Kallmann Syndrome, Erectile Disfunction, Male infertility, Urinary Calculi
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
Research Interests: Neural circuits underlying cognitive functions, neurodegenerative and psychiatric diseases, translational medicine, molecular pathways underlying synaptic function and neural repairs
Hengyang Medical College, University of South China, Hengyang, China.
Research Interests: Mitochondrial protein quality control, mtDNA maintenance, tumor metabolism, mitochondrial disorders, cell death, drug repurposing
Research Interests: Mitochondrial protein quality control, mtDNA maintenance, tumor metabolism, mitochondrial disorders, cell death, drug repurposing
Tongji Children's Hospital; Department of Pediatrics, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.
Research Interests: Pediatrics, genetics, inherited metabolic disorders, pediatric endocrinology, rare diseases, birth defects, neonatology, perinatal medicine
Research Interests: Pediatrics, genetics, inherited metabolic disorders, pediatric endocrinology, rare diseases, birth defects, neonatology, perinatal medicine
Institute for Stem Cell and Regenerative Medicine, Department of Rehabilitation Medicine, University of Washington, Seattle, WA, USA.
Research Interests: AAV-mediated gene transferring, CRISPR gene-editing
Research Interests: AAV-mediated gene transferring, CRISPR gene-editing
Centre for Paediatric Endocrinology Zürich (PEZZ), Zurich, Switzerland; Department of Pediatrics, Radboud University Medical Centre, Nijmegen, The Netherlands
Research Interests: Pediatric endocrinology, genotype–phenotype correlations, growth disorders, Noonan syndrome, hypogonadism, and related metabolic and developmental conditions
Research Interests: Pediatric endocrinology, genotype–phenotype correlations, growth disorders, Noonan syndrome, hypogonadism, and related metabolic and developmental conditions
Medicines and Healthcare Products Regulatory Agency, Canary Wharf, London, UK.
Research Interests: Rare diseases, regulatory science, health innovation, patient engagement, oncology, histopathology, EAMS and ILAP
Research Interests: Rare diseases, regulatory science, health innovation, patient engagement, oncology, histopathology, EAMS and ILAP
Department of Pediatrics, Sanford School of Medicine, University of South Dakota, Sioux Falls, SD, USA.
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
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
Division of Nephrology, Cliniques Universitaires Saint-Luc, Université Catholique de Louvain, Brussels, Belgium.
Research Interests: Genetic kidney disease
Research Interests: Genetic kidney disease
Institute of Rare Diseases Research (IIER), Instituto de Salud Carlos III, Madrid, Spain.
Research Interests: Rare diseases, public health, epidemiology, cardiovascular, risk, autism
Research Interests: Rare diseases, public health, epidemiology, cardiovascular, risk, autism
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
Research Interests: Clinical genomics, integrative multiomics, systems neuroscience, rare disease, leukodystrophies, adrenoleukodystrophy, disease modeling
Australian Institute of Tropical Health and Medicine, James Cook University, Cairns, Australia.
Research Interests: Human genetics and genomics, disease mechanisms including metabolic disorders and cancer, precision medicine
Research Interests: Human genetics and genomics, disease mechanisms including metabolic disorders and cancer, precision medicine
The Jackson Laboratory for Genomic Medicine, Farmington, CT, USA.
Research Interests: Precision medicine, bioinformatics, computational biology, genetics and genomics
Research Interests: Precision medicine, bioinformatics, computational biology, genetics and genomics
INSERM U1211 Rare Diseases, Genetics and Metabolism, University of Bordeaux, Bordeaux, France.
Research Interests: Cellular bioenergetics in human physiology and pathology
Research Interests: Cellular bioenergetics in human physiology and pathology
Center for Pediatrics and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.
Research Interests: Clinical and epidemiological research into rare kidney diseases, genetic basis of rare kidney diseases, ATMP and other innovative therapies for rare diseases, mechanisms and prevention of kidney disease progression
Research Interests: Clinical and epidemiological research into rare kidney diseases, genetic basis of rare kidney diseases, ATMP and other innovative therapies for rare diseases, mechanisms and prevention of kidney disease progression
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
Research Interests: Orphan regulation in EU, orphan medicinal products, rare diseases, clinical genetics, molecular genetics, epigenetics, psychiatry, neurology, neurobiology, regulatory science, scientific advice
National Centre for Rare Diseases, Istituto Superiore di Sanità, Rome, Italy.
Research Interests: Orphan drug production, genetic testing, newborn screening
Research Interests: Orphan drug production, genetic testing, newborn screening
Division of Ophthalmology, Department of Clinical Neurosciences, Geneva University Hospitals, Geneva, Switzerland.
Research Interests: Retinal implant, retina ganglion cell, retinitis pigmentosa, mass drug administration
Research Interests: Retinal implant, retina ganglion cell, retinitis pigmentosa, mass drug administration
Sorbonne Université, INSERM, Association Institut de Myologie, Centre de Recherche en Myologie, Paris, France.
Research Interests: Gene and cell therapy, muscular dystrophy
Research Interests: Gene and cell therapy, muscular dystrophy
Biosciences Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.
Research Interests: Genomics technology, male infertility genetics, translational genomics, personalised medicine
Research Interests: Genomics technology, male infertility genetics, translational genomics, personalised medicine
Canadian Organization for Rare Disorders, Toronto, Ontario, Canada.
Research Interests: Advocacy organizations, patient advocacy, drug industry, biobank, exome, genetic testing
Research Interests: Advocacy organizations, patient advocacy, drug industry, biobank, exome, genetic testing
Department of Gastrointestinal Surgery, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.
Research Interests: Short Bowel Syndrome (SBS), gastrointestinal Tumor (GIT), tumor Immunology
Research Interests: Short Bowel Syndrome (SBS), gastrointestinal Tumor (GIT), tumor Immunology
All members of the Editorial Board have identified their affiliated
institutions or organizations, along with the corresponding country
or geographic region. OAE Publishing Inc. remains neutral with
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