Editorial Board for section 'Human Genomics and Genetic Diseases'
- Animal Genetics and Genomics Section
- Human Genomics and Genetic Diseases Section
- Molecular Genetics and Genomics Section
- Microbial Genetics and Genomics Section
- Population and Evolutionary Genetics and Genomics Section
- Plant Genetics and Genomics Section
- Technologies and Resources for Genetics Section
- Epigenomics Section
- Neurogenomics Section
- Pharmacogenetics Section
- RNA Section
- Toxicogenomics Section
- Bioinformatics Section
- Cytogenomics Section
- Genes & Environments Section
- Genetic Diagnosis Section
- Transgenic Technology Section
- Viral Genomics Section
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
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
Interests: autism spectrum disorders; rett syndrome; experimental treatments; childhood and adolescence
Special Issues, Collections and Topics in MDPI journals
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
Interests: ancient DNA; human evolution; human population genetics; forensics genetics; wildlife forensics genetics
Special Issues, Collections and Topics in MDPI journals
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
Interests: neurocristopathies; autoinflammatory disorders; pediatric stroke; protein aggregation and disease; somatic and germline mosaicism; NGS based diagnostic approaches
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
Interests: chronic pancreatitis; genetics; mutational mechanisms; mutation; human genetic disease
Special Issues, Collections and Topics in MDPI journals
Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
Interests: human genetics; inherited retinal diseases; genomics; bioinformatics; single cell genomics
Interests: human genetics; inherited retinal diseases; genomics; bioinformatics; single cell genomics
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
Interests: child psychiatry; autism; genetics; biostatistics; cell models
Department of Biochemistry and Molecular Biology, Mayo Clinic, Rochester, MN 55905, USA
Interests: behavioral genetics; genome engineering; rare disease genetics
Interests: behavioral genetics; genome engineering; rare disease genetics
Genetics and Genome Sciences, University of Connecticut School of Medicine, Farmington, CT 06030-6403, USA
Interests: development; gene regulation; enhancers; birth defects; genetics
Interests: development; gene regulation; enhancers; birth defects; genetics
CNR, Ist Ric Genet & Biomed, Cagliari, Italy
Interests: rare disease; medical genetics; molecular genetics; physiopathological mechanisms
Special Issues, Collections and Topics in MDPI journals
Interests: rare disease; medical genetics; molecular genetics; physiopathological mechanisms
Special Issues, Collections and Topics in MDPI journals
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
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
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
Interests: tissue/organ regeneration including lens and retina; stem cells, reprogramming; eye development
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
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Interests: genetical and biochemical mechanisms of congenital hematological diseases, polycythaemias; altered hypoxia response
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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
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
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
Interests: apoptosis; Bcl2 family; small molecule anticancer discovery; DNA damage and repair; DNA replication stress; carcinogenesis; cancer therapy
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
Interests: familial breast cancer; breast cancer prevention; genetic predisposition; comprehensive risk assessment
Special Issues, Collections and Topics in MDPI journals
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
Interests: skin biology; keratinocyte; skin barrier; atopic dermatitis; genetic skin disease; gene therapy
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
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
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
Interests: medical retina; inherited retinal dystrophies/degeneration; age related macular degeneration; rare disorders of the retina; retinal telangiectasia; von hippel lindau
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
Interests: stem cells; disease modeling; spinal muscular atrophy; amyotrophic lateral sclerosis; Parkinson’s disease; muscular dystrophy
Special Issues, Collections and Topics in MDPI journals
Genetics, Castilla-La Mancha University, 02006-Albacete, Spain
Interests: ophthalmogenetics; inherited ocular diseases; congenital glaucoma; corneal dystrophy; zebrafish; CRISPR/Cas9
Interests: ophthalmogenetics; inherited ocular diseases; congenital glaucoma; corneal dystrophy; zebrafish; CRISPR/Cas9
Molecular Pathology Laboratory "PaoLa", Department of Biomolecular Sciences, University of Urbino "Carlo Bo", 61029 Urbino, PU, Italy
Interests: human diseases epigenomics; epidrugs discovery
Interests: human diseases epigenomics; epidrugs discovery
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
Interests: uropathology; cancer biomarkers; prostate cancer
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
Interests: genodermatoses; keratinization disorders; ichthyoses; psoriasis; NGS; genotyping; association studies; whole exome sequencing
Special Issues, Collections and Topics in MDPI journals
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
Interests: metabolic diseases; pediatric neurology; genetics; neurodegenerative diseases
1. Department of Human Genetics, Miller School of Medicine, University of Miami, Miami, FL, USA
2. Department of Oncology, Division of Clinical Genetics, Mount Sinai Medical Center at Florida, Miami, FL, USA
Interests: aortopathy and hereditary connective tissue disorders; adult complex disorders; hereditary cancer syndromes
Special Issues, Collections and Topics in MDPI journals
2. Department of Oncology, Division of Clinical Genetics, Mount Sinai Medical Center at Florida, Miami, FL, USA
Interests: aortopathy and hereditary connective tissue disorders; adult complex disorders; hereditary cancer syndromes
Special Issues, Collections and Topics in MDPI journals
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
Interests: genetica clinica; sindromi genetiche; malformazioni congenite malattie rare; pediatria
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1. Genomic Medicine Laboratory UILDM, Santa Lucia Foundation, 00142 Rome, Italy
2. Forensic Genetics Laboratory, Department of Biomedicine and Prevention, Tor Vergata University, 00133 Rome, Italy
Interests: forensic genetics; genetic counselling; human identification; neurogenetics; prenatal and postnatal genetic diagnosis
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2. Forensic Genetics Laboratory, Department of Biomedicine and Prevention, Tor Vergata University, 00133 Rome, Italy
Interests: forensic genetics; genetic counselling; human identification; neurogenetics; prenatal and postnatal genetic diagnosis
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The Raphael Recanati Genetics Institute, Rabin Medical Center–Beilinson Hospital, Petach Tikva, Israel Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel
Interests: human genetics; medical genetics; genotype-phenotype; cancer predisposition genes; inherited colorectal cancer and polyposis; Lynch syndrome
Special Issues, Collections and Topics in MDPI journals
Interests: human genetics; medical genetics; genotype-phenotype; cancer predisposition genes; inherited colorectal cancer and polyposis; Lynch syndrome
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1. Department of Psychiatry and Psychotherapy, Semmelweis University, 1085 Budapest, Hungary
2. Department of Clinical Psychology, Semmelweis University, 1092 Budapest, Hungary
3. NAP3.0 Neuropsychopharmacology Research Group, Hungarian Academy of Sciences and Semmelweis University, 1089 Budapest, Hungary
Interests: genetics; affective temperaments; bipolar disorders; gene-environment interactions; personality disorders; suicide
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2. Department of Clinical Psychology, Semmelweis University, 1092 Budapest, Hungary
3. NAP3.0 Neuropsychopharmacology Research Group, Hungarian Academy of Sciences and Semmelweis University, 1089 Budapest, Hungary
Interests: genetics; affective temperaments; bipolar disorders; gene-environment interactions; personality disorders; suicide
Special Issues, Collections and Topics in MDPI journals
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
Interests: inborn errors of metabolism; human (pediatric) genetics and genomics; developmental genetics; rare diseases; pediatric nephrology
Special Issues, Collections and Topics in MDPI journals
