Editorial Board

Laboratory of Chemical and Biological Technology for Health, Pharmacy Faculty, Paris University, Paris, France.
Fondation Maladies Rares - Foundation for Rare Diseases, Paris, France.

Research Interests:  Bioenergetics, neuropharmacology and neurodegenerative diseases, gene therapy, the quantification of dopaminergic neuronal death in Parkinson's disease

Faculty of Biology and Medicine, University of Lausanne, Lausanne, Switzerland.

Research Interests:  Statistical genetics, monogenic diseases, rare genetic variants in common pathologies

Clinical and Translational Research Center, Shanghai First Maternity and Infant Hospital, Tongji University School of Medicine, Shanghai, China.
Department of Obstetrics, Shanghai First Maternity and Infant Hospital, Tongji University School of Medicine, Shanghai, China.

Research Interests:  Preeclampsia, PPH, preterm birth, NIPT, DOHaD

Departments of Veterinary Integrative Biosciences and Veterinary Pathobiology, College of Veterinary Medicine & Biomedical Sciences, Texas A&M University, College Station, TX, USA

Research Interests:  Comparative neurology, neuropathology, and myopathology; animal models; functional testing; transverse imaging (MRI and CT)

University of Texas Medical Branch, Galveston, TX, USA.

Research Interests:  growth factors, biomarker assay development, disorders of growth and development, obesity, diabetes, and Prader-Willi syndrome.

Human Genetics, University of Miami School of Medicine, Boca Raton, USA.

Research Interests:  Gaucher disease, lysosomal storage disorders, rare metabolic diseases

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

Service de Pharmacologie Clinique et Pharmacovigilance, Aix-Marseille University, AP-HM, Orphandev-FCRIN, INSERM, Marseille, France.

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

Genethon, INSERM, Université Evry Val-d’Essone, Université Paris-Saclay, Evry, France.

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

Shanghai Sixth People’s Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, China

Research Interests:  movement disorders, neurogenetic diseases, translational research, neuromuscular disorders, rare neurological diseases

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

University Hospitals Leuven, Leuven, Belgium.

Research Interests:  Orphan drugs, pharmaceutical compounding, advanced therapy medicinal products, off-label use, hospital exemption, orphan devices

Baylor College of Medicine, Houston, USA.

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

Museum National d'Histoire Naturelle, Inserm, Sorbonne Universités, Paris, France.

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

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

Cardiovascular Center, Osaka Medical and Pharmaceutical University, Takatsuki, Japan

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

EURORDIS-Rare Diseases Europe, Paris, France.

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

Institute of Medical Genetics and Genomics, Fudan University, Shanghai, China

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

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

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

Technion Faculty of Medicine, Technion Israel Institute of Technology, Haifa, Israel

Research Interests:  Cardiovascular disease, precision medicine, epilepsy, diabetes, autism, intellectual disability

Guangdong Provincial Key Laboratory of Non-human Primate Research, Guangdong-Hongkong-Macau Institute of CNS Regeneration, Jinan University, Guangzhou, China

Research Interests:  Huntington’s disease, neurodegenerative disease, genome editing, animal models, gene therapy

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

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

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

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

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

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

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

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

Division of Nephrology, Cliniques Universitaires Saint-Luc, Université Catholique de Louvain, Brussels, Belgium.

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

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

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

The Jackson Laboratory for Genomic Medicine, Farmington, CT, USA.

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

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

ENT Institute and Department of Otorhinolaryngology, Eye and ENT Hospital, Shanghai Key Laboratory of Gene Editing and Cell Therapy for Rare Diseases, State Key Laboratory of Brain Function and Disorders and MOE Frontiers Center for Brain Science, Institutes of Biomedical Sciences, Fudan University, Shanghai, China

Research Interests:  deafness mechanism, clinical translation research, gene therapy, genome editing, hair cell regeneration

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

National Centre for Rare Diseases, Istituto Superiore di Sanità, Rome, Italy.

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

Sorbonne Université, INSERM, Association Institut de Myologie, Centre de Recherche en Myologie, Paris, France.

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

Canadian Organization for Rare Disorders, Toronto, Ontario, Canada.

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

Department of Medical Genetics and Center for Rare Diseases, Second Affiliated Hospital, Zhejiang University School of Medicine, and Zhejiang Key Laboratory of Rare Diseases for Precision Medicine and Clinical Translation, Hangzhou, China

Research Interests:  Neurodegenerative diseases, precision diagnosis, neurogenetic diseases, rare diseases, gene therapy