Editorial Board for section 'Human Genomics and Genetic Diseases'

Please see the section webpage for more information on this section.

Please note that the order in which the Editors appear on this page is alphabetical, and follows the structure of the editorial board presented on the MDPI website under information for editors: editorial board responsibilities.

Members


Website
Section Board Member
Department of Child and Adolescent Neuropsychiatry, University Hospital of Siena, Siena, Italy
Interests: autism spectrum disorders; rett syndrome; experimental treatments; childhood and adolescence
Special Issues, Collections and Topics in MDPI journals

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Section Board Member
Department of Biology, University of Florence, 50122 Florence, Italy
Interests: ancient DNA; human evolution; human population genetics; forensics genetics; wildlife forensics genetics
Special Issues, Collections and Topics in MDPI journals

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Section Board Member
Laboratory of Genetics and Genomics of Rare Diseases, Unità Operativa Semplice Dipartimentale, Istituto Giannina Gaslini, 16147 Genoa, Italy
Interests: neurocristopathies; autoinflammatory disorders; pediatric stroke; protein aggregation and disease; somatic and germline mosaicism; NGS based diagnostic approaches

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Section Board Member
Directeur de Recherche Institut National de la Santé et de la Recherche Médicale (INSERM) U1078 and EFS, Université de Bretagne Occidentale (UBO), F-29200 Brest, France
Interests: chronic pancreatitis; genetics; mutational mechanisms; mutation; human genetic disease
Special Issues, Collections and Topics in MDPI journals

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Section Board Member
Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
Interests: human genetics; inherited retinal diseases; genomics; bioinformatics; single cell genomics

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Section Board Member
Department of Child and Adolescent Psychiatry, Psychosomatics and Psychotherapy, Molecular Genetics Laboratory, University Hospital Frankfurt, 60590 Frankfurt, Germany
Interests: child psychiatry; autism; genetics; biostatistics; cell models

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Section Board Member
Department of Biochemistry and Molecular Biology, Mayo Clinic, Rochester, MN 55905, USA
Interests: behavioral genetics; genome engineering; rare disease genetics

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Section Board Member
Genetics and Genome Sciences, University of Connecticut School of Medicine, Farmington, CT 06030-6403, USA
Interests: development; gene regulation; enhancers; birth defects; genetics

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CNR, Ist Ric Genet & Biomed, Cagliari, Italy
Interests: rare disease; medical genetics; molecular genetics; physiopathological mechanisms
Special Issues, Collections and Topics in MDPI journals

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Section Board Member
Department of Biology, Ecology and Earth Sciences, University of Calabria, 87036 Rende, Italy
Interests: genetic component of human longevity; aging and age-related traits; association studies; common variants; human lifespan; healthy aging; late life survival; nonagenarian sampling; genetic epidemiology; genetic data analysis
Special Issues, Collections and Topics in MDPI journals

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Section Board Member
Department of Biology, Miami University, 244 Pearson Hall, Oxford, OH 45056, USA
Interests: tissue/organ regeneration including lens and retina; stem cells, reprogramming; eye development

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Section Board Member
Department of Precision Medicine, University of Campania “Luigi Vanvitelli”, 81100 Naples, Italy
Interests: genetical and biochemical mechanisms of congenital hematological diseases, polycythaemias; altered hypoxia response
Special Issues, Collections and Topics in MDPI journals

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Section Board Member
1. Section of Statistical Multi-Omics, Department of Clinical and Experimental Medicine, University of Surrey, Guildford GU2 7XH, UK
2. Institute for People-Centred AI, University of Surrey, Guildford GU2 7X, UK
Interests: genetics; multi-omics; gut microbiome; metabolomics; neurodegenerative diseases; metabolic diseases; machine learning
Special Issues, Collections and Topics in MDPI journals

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Section Board Member
Division of Cancer Biology, Department of Radiation Oncology, Emory University School of Medicine, Winship Cancer Institute of Emory University, Atlanta, GA 30322, USA
Interests: apoptosis; Bcl2 family; small molecule anticancer discovery; DNA damage and repair; DNA replication stress; carcinogenesis; cancer therapy

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Section Board Member
Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands
Interests: familial breast cancer; breast cancer prevention; genetic predisposition; comprehensive risk assessment
Special Issues, Collections and Topics in MDPI journals

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Section Board Member
Infection, Immunity and Inflammation Research & Teaching Department Immunobiology Section, UCL Great Ormond Street Institute of Child Health, Faculty of Population Health Sciences, 30 Guilford Street, London WC1N 1EH, UK
Interests: skin biology; keratinocyte; skin barrier; atopic dermatitis; genetic skin disease; gene therapy

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Section Board Member
Department of Biological, Chemical and Pharmaceutical Sciences and Technologies (STEBICEF), University of Palermo, 90100 Palermo, Italy
Interests: mammalian nervous system development and function; post-transcriptional regulation of gene expression; RNA-binding proteins (RBPs) interacting with mRNAs encoding H1.0 and H3.3 histone variants in developing rat brain; extracellular vesicles (EVs) released by normal and tumor brain cells
Special Issues, Collections and Topics in MDPI journals

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Section Board Member
Nuffield Laboratory of Ophthalmology, Nuffield Department of Clinical Neuroscience, University of Oxford, Level 6 John Radcliffe Hospital, Headley Way, Oxford OX3 9DU, UK
Interests: medical retina; inherited retinal dystrophies/degeneration; age related macular degeneration; rare disorders of the retina; retinal telangiectasia; von hippel lindau

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Section Board Member
Department of Cell Biology, Neurobiology & Anatomy, Medical College of Wisconsin, Milwaukee, WI 53226, USA
Interests: stem cells; disease modeling; spinal muscular atrophy; amyotrophic lateral sclerosis; Parkinson’s disease; muscular dystrophy
Special Issues, Collections and Topics in MDPI journals

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Section Board Member
TissueGnostics GmbH, 1020 Vienna, Austria
Interests: personalized/precision medicine; cancer research; image cytometry; microscopy; software engineering & development of medical devices according to ISO 13485
Special Issues, Collections and Topics in MDPI journals

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Section Board Member
Genetics, Castilla-La Mancha University, 02006-Albacete, Spain
Interests: ophthalmogenetics; inherited ocular diseases; congenital glaucoma; corneal dystrophy; zebrafish; CRISPR/Cas9

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Section Board Member
Molecular Pathology Laboratory "PaoLa", Department of Biomolecular Sciences, University of Urbino "Carlo Bo", 61029 Urbino, PU, Italy
Interests: human diseases epigenomics; epidrugs discovery

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Section Board Member
Unit of Pathology, Department of Surgical, Medical and Molecular Pathology and Critical Care, University of Pisa, 56126 Pisa, Italy
Interests: uropathology; cancer biomarkers; prostate cancer

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Section Board Member
Medical Center, Faculty of Medicine, Institute of Human Genetics, University of Freiburg, 79106 Freiburg, Germany
Interests: genodermatoses; keratinization disorders; ichthyoses; psoriasis; NGS; genotyping; association studies; whole exome sequencing
Special Issues, Collections and Topics in MDPI journals

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Section Board Member
Director Pediatric Clinic and Referral Center for Inherited Metabolic Diseases, AOU Policlinico G. Rodolico, Via Santa Sofia 78, 95123 Catania, Italy
Interests: metabolic diseases; pediatric neurology; genetics; neurodegenerative diseases

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Section Board Member
Azienda USL-IRCCS di Reggio Emilia, 42122 Reggio Emilia, Italy
Interests: genetica clinica; sindromi genetiche; malformazioni congenite malattie rare; pediatria
Special Issues, Collections and Topics in MDPI journals

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Section Board Member
1. Genomic Medicine Laboratory UILDM, Santa Lucia Foundation, 00142 Rome, Italy
2. Forensic Genetics Laboratoty, Department of Biomedicine and Prevention, Tor Vergata University, 00133 Rome, Italy
Interests: forensic genetics; genetic counselling; human identification; neurogenetics; prenatal and postnatal genetic diagnosis
Special Issues, Collections and Topics in MDPI journals

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Section Board Member
Department of Psychiatry and Psychotherapy, Semmelweis University, 1085 Budapest, Hungary
Interests: psychiatric genetics; population genetics; personality genetics; genetics of depression
Special Issues, Collections and Topics in MDPI journals

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Section Board Member
Department of Pediatrics, University Hospital “Marqués de Valdecilla”- University of Cantabria, Instituto de Investigación Valdecilla (IDIVAL), Avenida Cardenal Herrera Oria s/n, 39011 Santander (CANTABRIA), Spain
Interests: inborn errors of metabolism; human (pediatric) genetics and genomics; developmental genetics; rare diseases; pediatric nephrology
Special Issues, Collections and Topics in MDPI journals

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Section Board Member
Lung Cancer and Respiratory Disease Center, Yamanashi Central Hospital, Yamanashi 400-8506, Japan
Interests: lung cancer; sequencing; immunotherapy; thoracic surgery; liquid biopsy; microbiome; genome analysis
Special Issues, Collections and Topics in MDPI journals
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