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


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Section Board Member
Eye Genetics Research Unit, Sydney Children’s Hospitals Network, Save Sight Institute, Children’s Medical Research Institute, University of Sydney, Sydney, NSW 2000, Australia
Interests: genetic eye disease; glaucoma; ocular electrophysiology; children's eye disease and laser assisted cataract surgery

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Section Board Member
Rigshospitalet, Clinical Genetic Department, Kennedy Center, Gl. Landevej 7, 2600 Glostrup, Denmark
Interests: ophthalmogenetics; albinism; retinal dystrophies; microphthalmia; optic atrophy; Sequencevariations; NGS, exome and wholegenome sequencing; genetic code; gene structure; human genetics; medical genetics; gene therapy; personal medicine; genome projects; genomics

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Section Board Member
Aging Institute, Division of Geriatric Medicine, Department of Medicine, University of Pittsburgh, Pittsburgh, PA 15219, USA
Interests: aging; DNA damage/repair; cellular senescence; metabolism; mitochondria

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Section Board Member
1. Cardiovascular Degeneration, Haendeler Group, Clinical Chemistry and Laboratory Diagnostics, Medical Faculty, University Hospital, Heinrich-Heine University Duesseldorf, 40225 Duesseldorf, Germany
2. Cardiovascular Research Institute Düsseldorf (CARID), Medical Faculty, University Hospital, Heinrich-Heine University Duesseldorf, 40225 Duesseldorf, Germany
Interests: cardiovascular diseases; redox regulation; mitochondria; aging
Special Issues, Collections and Topics in MDPI journals

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Section Board Member
Department of Pediatrics, University of Illinois at Chicago, Chicago, IL 60607, USA
Interests: acute lung injury; asthma; lung diseases; respiration disorders; genetic

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Section Board Member
UCL, Great Ormond Street Institute of Child Health, London WC1N 1EH, UK
Interests: gene therapy; mRNA therapy; siRNA therapy; gene editing; CRISPR; non-viral; nanoparticles; delivery; cystic fibrosis

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Centre for Regenerative Medicine, The University of Edinburgh, Edinburgh EH16 4UU, UK
Interests: gene regulation; chromatin; histone modifications; polycomb; nuclear organisations; DNA methylation

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Centre for Cell Therapy and Regenerative Medicine, University of Western Australia, 35 Stirling Hwy, Crawley, WA 6009, Australia
Interests: BARD1; BRCA1; BARD1 splicing; BARD1 isoforms; breast cancer; ovarian cancer; lung cancer; biomarkers; treatment targets
Special Issues, Collections and Topics in MDPI journals

grade Website
Section Board Member
Gene Expression Laboratory, Salk Institute for Biological Studies, La Jolla, CA 92037, USA
Interests: gene expression; stem cell biology; regenerative medicine; stem cells; stem cell differentiation; stem cell culture; embryonic development; regeneration; pluripotent stem cells; iPS; cellular reprogramming

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Section Board Member
1. Department of Pediatrics I, Medical University of Innsbruck, Anichstrasse 35, 6020 Innsbruck, Austria
2. Division of Human Genetics, Medical University of Innsbruck, Anichstrasse 35, 6020 Innsbruck, Austria
Interests: genome sequencing; pediatric gastroenterology; hepatology; skeletal dysplasia; skeletal disorders; retinal disorders; corneal dystrophies
Special Issues, Collections and Topics in MDPI journals

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Section Board Member
Department of Pathology, Feinberg School of Medicine, Northwestern University, Chicago, IL 60611, USA
Interests: molecular genetics; HLA; immunogenetics; cancer genetics
Special Issues, Collections and Topics in MDPI journals

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Laboratory of Nematology, Wageningen University & Research, Droevendaalsesteeg 1, 6708 PB Wageningen, The Netherlands
Interests: quantitative genetics; (e)QTL; genetic variation; C. elegans

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Division of Genome Medicine, Institute for Genome Research, The University of Tokushima, 3-18-15, Kuramoto-cho, Tokushima 770-8503, Japan
Interests: breast cancer; microarrays; gene expression analysis; carcinogenesis; molecular-targeted cancer therapy; estrogen-receptor-regulation

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Section Board Member
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
Interests: genome interpretation; protein coding variants; pathogenic effects; disease driver genes
Special Issues, Collections and Topics in MDPI journals

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Clinical Cooperation Unit Molecular Hematology/Oncology, German Cancer Research Center (DKFZ) and Department of Internal Medicine University of Heidelberg, 69120 Heidelberg, Germany
Interests: chromosomal instability; carcinoma of unknown primary (CUP) syndrome; acute myeloid leukemia

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Section Board Member
1. Department of Epileptology, University Hospital Bonn, 53127 Bonn, Germany
2. Department of Experimental Epileptology and Cognition Research, University Hospital Bonn, 53127 Bonn, Germany
Interests: mitochondrial DNA; somatic mutations in mtDNA; mitochondrial diseases; genetic epilepsies

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Section Board Member
Department of Physiology, Medical College of Wisconsin, Milwaukee, WI 53226, USA
Interests: complex disease genetics; genetic mapping; genomics; systems genetics; rodent models of cardiometabolic disease; model organism databases

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Max Planck Institute for Molecular Genetics (MPI-MG), Department Vertebrate Genomics, Ihnestr. 63-73, D-14195 Berlin, Germany
Interests: genome research; tumor systems biology; technology development

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Section Board Member
Department of Pathology, Department of Biochemistry and Molecular Genetics, University of Virginia, Charlottesville, VA 22901, USA
Interests: RNA processing; gene fusion; chromosomal rearrangement; chimeric RNA; oncogene
Special Issues, Collections and Topics in MDPI journals

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Section Board Member
Clinical Pathology, Department of Bio-Medicine, Neuroscience, and Advanced Diagnostics, University of Palermo, 90100 Palermo, Italy
Interests: Immunogenetics; ageing-associated diseases; genetic predictive markers in multifactorial diseases; genetic predictive markers in immune diseases; genetic predictive markers in infectious diseases; immunogenetics of Down’s syndrome
Special Issues, Collections and Topics in MDPI journals

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Section Board Member
Department of Developmental Biology, University of Pittsburgh School of Medicine, University of Pittsburgh, Pittsburgh, PA 15260, USA
Interests: human congenital heart disease; genetics and epigenetics; left-right patterning in cardiovascular development; mouse forward genetic screens
Special Issues, Collections and Topics in MDPI journals

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Section Board Member
Department of Psychiatry, Yale University School of Medicine, New Haven, CT 06510, USA
Interests: neuropsychiatric disorders; schizophrenia; depression; ADHD; autism; substance dependence; genetics; risk SNPs; mRNA expression
Special Issues, Collections and Topics in MDPI journals

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Section Board Member
Molecular and Clinical Sciences Research Institute, St George’s University of London, London, UK
Interests: pulmonary arterial hypertension; rare and common genetic variation in pulmonary arterial hypertension; next generation sequencing analysis of childhood pulmonary arterial hypertension; genetic factors underlying Adams-Oliver syndrome; analysis of under-studied patient populations in rare disease
Special Issues, Collections and Topics in MDPI journals

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Section Board Member
Department of Molecular and Translational Medicine, University of Brescia, 25123 Brescia, Italy
Interests: psychiatric genetics; schizophrenia; mood disorders; genomics; transcriptomic
Special Issues, Collections and Topics in MDPI journals

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Section Board Member
1. Head of the Assisted Human Reproduction Unit Clinical Institute of Gynecology, Obstetrics and Neonatology (ICGON) Hospital Clinic of Barcelona, 08036 Barcelona, Spain
2. Faculty of Medicine, University of Barcelona (UB), 08007 Barcelona, Spain
Interests: genetics and reproduction; gynaecology; fertility; assisted reproduction tecniques; ovarian failure; recurrent pregnancy lost

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Section Board Member
Centre for Public Health, School of Medicine, Dentistry and Biomedical Sciences, Queen’s University Belfast, Belfast BT7 1NN, UK
Interests: molecular epidemiology of rare and complex disorders; improving the lives of individuals living and working with rare disease(s) with a focus on diagnosis, reporting, information and communication
Special Issues, Collections and Topics in MDPI journals

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Section Board Member
Swiss DNAlysis, 8600 Dübendorf, Switzerland
Interests: cardiogenetics; sudden cardiac death; channelopathies; cardiomyopathies

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Section Board Member
Institute for Cardiomyopathies, Heidelberg, Heidelberg University Hospital, Im Neuenheimer Feld 410, 69120 Heidelberg, Germany
Interests: genomics; cardiomypathies; digital health; artificial intelligence; gene therapies

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Center for Public Health Genomics, Department of Public Health Sciences, University of Virginia, Charlottesville, VA 22908, USA
Interests: cardiovascular diseases; human genetics; functional genomics; single-cell sequencing; bioinformatics; drug discovery
Special Issues, Collections and Topics in MDPI journals

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Section Board Member
Department of Pathobiochemistry, Faculty of Pharmacy, Meijo University, Nagoya 468-8503, Japan
Interests: proteoglycan; glycosaminoglycan; chondroitin sulfate; dermatan sulfate; heparan sulfate; Ehlers–Danlos syndrome; spondyloepimetaphyseal dysplasia
Special Issues, Collections and Topics in MDPI journals
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