Web Access Research Portal

Researcher: Charlesworth, JC (Dr Jac Charlesworth)

Fields of Research

Central nervous system
Medical genetics (excl. cancer genetics)
Gene mapping
Epigenetics (incl. genome methylation and epigenomics)
Cancer genetics
Rheumatology and arthritis
Cancer cell biology
Neurology and neuromuscular diseases
Data models, storage and indexing
Animal immunology
Cellular nervous system
Molecular targets
Biological adaptation
Clinical chemistry (incl. diagnostics)
Digital curation and preservation
Gene expression (incl. microarray and other genome-wide approaches)
Cloud computing
Vision science
Data engineering and data science
Medical and health law
Physical oceanography
Medical biochemistry - amino acids and metabolites
Respiratory diseases
Cell metabolism
People with disability
Clinical sciences
Oncology and carcinogenesis
Biological oceanography
Regenerative medicine (incl. stem cells)
Health counselling
Solid tumours

Research Objectives

Clinical health
Expanding knowledge in the biological sciences
Expanding knowledge in the biomedical and clinical sciences
Expanding knowledge in the health sciences
Electronic information storage and retrieval services
Diagnosis of human diseases and conditions
Health related to ageing
Evaluation of health outcomes
Preventive medicine
Information systems, technologies and services
Terrestrial biodiversity
Technological and organisational innovation
Industrial crops
Aboriginal and Torres Strait Islander determinants of health
Climate change models
Law reform
Treatment of human diseases and conditions
Specific population health (excl. Indigenous health)
Men's health
Health inequalities
Expanding knowledge in psychology

Career Best Publications

Research Publications

A 127 kb truncating deletion of PGRMC1 is a novel cause of X-linked isolated paediatric cataract; European Journal of Human Genetics
A genome-wide analysis of 'Bounty' descendants implicates several novel variants in migraine susceptibility; Neurogenetics
A linkage analysis of cigarette and alcohol consumption in an unselected Mexican American population; American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics
A multi-ethnic genome-wide association study implicates collagen matrix integrity and cell differentiation pathways in keratoconus; Communications Biology
A polymorphism in the HLA-DPB1 gene is associated with susceptibility to multiple sclerosis; PLoS ONE
A retrospective examination of mean relative telomere length in the Tasmanian Familial Hematological Malignancies Study; Oncology Reports
An Immunochip Based Interrogation of Scleroderma Susceptibility Variants; Internal Medicine Journal, Vol 42
An Immunochip-Based Interrogation of Scleroderma Susceptibility Variants; Rheumatology, , Vol 51
An Immunochip-based interrogation of scleroderma susceptibility variants identifies a novel association at DNASE1L3; Arthritis Research & Therapy
An Overview of the Research Data Portal: The University of Tasmania’s first institution-wide digital data repository; eResearch Australasia 2021 Conference
An X chromosome association scan of the Norfolk Island genetic isolate provides evidence for a novel migraine susceptibility locus at Xq12; PLoS One
Apparent autosomal dominant keratoconus in a large Australian pedigree accounted for by digenic inheritance of two novel loci; Human Genetics
Association between multiple sclerosis risk-associated SNPs and relapse and disability - a prospective cohort study; Multiple Sclerosis
Association of genetic variation with keratoconus; JAMA Ophthalmology
Association of POAG Risk Factors and the Thr377Met MYOC Mutation in an Isolated Greek Population; Investigative Ophthalmology and Visual Science (Iovs)
Associations between HLA DRB1 Alleles and Autoantibodies in Systemic Sclerosis; Internal Medicine Journal, Vol 44
Broad Phenotypic variability in a Single Pedigree With a Novel 1410delC Mutation in the PST Domain of the PAX6 Gene; Human Mutation
Combining linkage, genome-wide association and large-scale transcriptional profiling and to identify genes related to total antioxidant status; GeneMappers 2009 ~ 7th Australian Human Gene Mapping Conference
Common genetic variation within miR-146a predicts disease onset and relapse in multiple sclerosis; Neurological Sciences
Comparison of pre-processing methodologies for Illumina 450k methylation array data in familial analyses; Clinical Epigenetics
Confirmation of the Adult-Onset Primary Open Angle Glaucoma Locus GLC1B at 2cen-q13 in an Australian Family; Ophthalmologica
Discovery of expression QTLs using large-scale transcriptional profiling in human lymphocytes; Nature Genetics
Endophenotype Ranking Facilitates Identification of Novel QTLs for Recurrent Major Depression; 66th Annual Scientific Convention and Meeting, Society of Biological Psychiatry
Evaluating a CLL susceptibility variant in ITGB2 in families with multiple sub-types of hematological malignancies; Blood
Evidence for a Novel Type 1 Diabetes Susceptibility Locus on Chromosome 8; Diabetes
Generation and characterisation of four multiple sclerosis iPSC lines from a single family; Stem Cell Research
Generation of MNZTASi001-A, a human pluripotent stem cell line from a person with primary progressive multiple sclerosis; Stem Cell Research
Genetic analysis of transcriptional profiles for the identification of genes influencing obesity; American Society of Human Genetics, 56th Annual Meeting
Genetic Analysis Workshop 17 mini-exome simulation; BMC Proceedings
Genetic association of preeclampsia to the inflammatory response gene SEPS1 ; American Journal of Obstetrics and Gynecology
Genetic basis of neurocognitive decline and reduced white-matter integrity in normal human brain aging; Proceedings of the National Academy of Sciences of The United States of America
Genetic determinants of epigenetic patterns: providing insight into disease; Molecular Medicine
Genetic determinants of mitochondrial content; Human Molecular Genetics
Genetic effects on DNA methylation and its potential relevance for obesity in Mexican Americans; PL o S One
Genetic loci for Epstein-Barr virus nuclear antigen-1 are associated with risk of multiple sclerosis; Multiple Sclerosis Journal
Genetic variation in PBMC-produced IFN-γ and TNF-α associations with relapse in multiple sclerosis; Journal of The Neurological Sciences
Genetic variation in the gene LRP2 increases relapse risk in multiple sclerosis; Journal of Neurology, Neurosurgery and Psychiatry
Genome-wide association of human amygdala volume identifies a QTL at IRX2; The American Society of Human Genetics 59th Annual Meeting
Genome-Wide Combined Linkage/Association Scan Localizes Two QTLs Influencing Human Caudate Volume; 65th Annual Scientific Convention and Meeting, Society of Biological Psychiatry
Genome-wide genetic and transcriptomic investigation of variation in antibody response to dietary antigens; Genetic Epidemiology
Genome-wide linkage scan for loci influencing plasma triglyceride levels; BMC Proceedings
Genotype by Diabetes Duration Interaction Effects on Gene Expression; American Diabetes Association 68th Scientific Sessions 2008
Genotype × age interaction in human transcriptional ageing; Mechanisms of Ageing and Development
Hepatic Gene Networks in Morbidly Obese Patients With Nonalcoholic Fatty Liver Disease; Obesity Surgery: Including Laparoscopy and Allied Care
Heritability and genome-wide linkage analysis of migraine in the genetic isolate of Norfolk Island; Gene
Heritability of Central Corneal Thickness in Nuclear Families ; Investigative Ophthalmology and Visual Science (Iovs)
High dimensional endophenotype ranking in the search for major depression risk genes; Biological Psychiatry
Hunting for Disease Genes in Healthy Brains; Australian and New Zealand Association of Neurologists Annual Scientific Meeting
Identity-by-Descent Mapping to Detect Rare Variants Conferring Susceptibility to Multiple Sclerosis; PLoS ONE
Impact of the G84E variant on HOXB13 gene and protein expression in formalin-fixed, paraffin-embedded prostate tumours; Scientific Reports
Inheritance of paediatric and congenital cataracts; Annual Meeting
Integrating genomic analysis with the genetic basis of gene expression: preliminary evidence of the identification of causal genes for cardiovascular and metabolic traits related to nutrition in Mexicans; Advances in Nutrition
Interrogating Heritability and Common Variants in Extended Pedigrees with Age-Related Macular Degeneration; ARVO 2015 Annual Meeting
Key challenges in bringing CRISPR-mediated somatic cell therapy into the clinic; Genome Medicine
Large scale transcriptional profiling for the identification of genes influencing total antioxidant status in relation to atherosclerosis and cardiovascular disease risk; International Meeting on Genetics of Complex Diseases and Isolated Populations
Large-Scale Transcriptional Profiling and Genome-Wide Association of Intelligence in the Genetics of Brain Structure and Function Study; American Society of Human Genetics, 58th Annual Meeting
Linkage mapping of CVD risk traits in the isolated Norfolk Island population ; Human Genetics
Linkage to 10q22 for maximum intraocular pressure and 1p32 for maximum cup-to-disc ratio in an extended primary open-angle glaucoma pedigree; Investigative Ophthalmology & Visual Science
Lipid-related genetic polymorphisms significantly modulate the association between lipids and disability progression in multiple sclerosis; Journal of Neurology, Neurosurgery and Psychiatry
Low-frequency and rare-coding variation contributes to multiple sclerosis risk; Cell
Model selection and Bayesian methods in statistical genetics: summary of group 11 contributions to Genetic Analysis Workshop 15; Genetic Epidemiology
Modulating effects of WT1 on interferon-β-vitamin D association in MS; Acta Neurologica Scandinavica
Multiple Quantitative Trait Loci for Anti-EBNA-1 IgG Titres are Associated with Risk of Multiple Sclerosis
Multiple sclerosis risk variants regulate gene expression in innate and adaptive immune cells; Life Science Alliance
Novel modulating effects of PKC family genes on the relationship between serum vitamin D and relapse in multiple sclerosis; Journal of Neurology, Neurosurgery and Psychiatry
Principal component and linkage analysis of cardiovascular risk traits in the Norfolk Isolate ; Human Heredity: International Journal of Human and Medical Genetics
Progress and challenges in genome-wide studies to understand the genetics of diabetic retinopathy; Annals of Eye Science
Rapid and efficient cataract gene evaluation in F0 zebrafish using CRISPR-Cas9 ribonucleoprotein complexes; Methods: A Companion to Methods in Enzymology
Rare, potentially pathogenic variants in 21 keratoconus candidate genes are not enriched in cases in a large Australian cohort of European descent; PLoS One
Rare, potentially pathogenic variants in ZNF469 are not enriched in keratoconus in a large Australian cohort of European descent; Investigative Ophthalmology and Visual Science (Iovs)
Rediscovering the value of families for psychiatric genetics research; Molecular Psychiatry
Resequencing and fine-mapping of the chromosome 12q13-14 locus associated with multiple sclerosis refines the number of implicated genes; Human Molecular Genetics
Role of genetic susceptibility variants in predicting clinical course in multiple sclerosis: a cohort study; Journal of Neurology, Neurosurgery and Psychiatry
Searching for rare variants conferring susceptibility to multiple sclerosis; Progress in MS Research Conference
Stimulated PBMC-produced IFN-γ and TNF-α are associated with altered relapse risk in multiple sclerosis: Results from a prospective cohort study; Journal of Neurology, Neurosurgery and Psychiatry
Synchronous In-Vivo Large-Scale Transcriptional Profiling in Human Peripheral Blood Mononuclear Cells, Myocytes and Adipocytes; Obesity 2010: Obesity Society 28th Annual Scientific Meeting
Systems genetics of the nuclear factor-κB signal transduction network. I. Detection of several quantitative trait loci potentially relevant to aging; Mechanisms of Ageing and Development
The application of a population based ascertainment correction for the variance components analysis of quantitative traits in a single extended pedigree; 5th Australasian Human Gene Mapping Conference Incorporating the 9th Australian Twin Registry Conference
The CYP27B1 variant associated with an increased risk of autoimmune disease is underexpressed in tolerizing dendritic cells; Human Molecular Genetics
The genetics of multiple sclerosis
The MS risk allele of CD40 is associated with reduced cell-membrane bound expression in antigen presenting cells: implications for gene function; PLoS One
The path to open-angle glaucoma gene discovery: Endophenotypic status of intraocular pressure, cup-to-disc ratio, and central corneal thickness; Investigative Ophthalmology and Visual Science
The potential role of epigenetic modifications in the heritability of multiple sclerosis; Multiple Sclerosis Journal
The Varied Mechanisms of Vitamin D in the Onset and Clinical Course of MS: Potential Roles in Modulating Other Etiological Pathways
The voltage-gated calcium channel CaV1.2 promotes adult oligodendrocyte progenitor cell survival in the mouse corpus callosum but not motor cortex; Glia
Toward the identification of causal genes in complex diseases: a gene-centric joint test of significance combining genomic and transcriptomic data; BMC proceedings
Transcriptome and proteome profiling reveals stress-induced expression signatures of imiquimod-treated Tasmanian devil facial tumor disease (DFTD) cells; OncoTarget
Transcriptomic epidemiology of smoking; GeneMappers 2007: 6th Australian Gene Mapping Conference
Transcriptomic epidemiology of smoking: the effect of smoking on gene expression in lymphocytes ; B M C Medical Genomics
Transcriptomics of cortical gray matter thickness decline during normal aging; Neuroimage
Using normal variation in neuroanatomic traits to identify genes and pathways influencing disease: a joint linkage and association analysis of brain lesions; 8th GeneMappers Conference
Utilising multi-large omics data to elucidate biological mechanisms within multiple sclerosis genetic susceptibility loci; Multiple Sclerosis Journal
Variation within MBP gene predicts disease course in multiple sclerosis; Brain and Behavior

Research Projects

A family-based approach to studying neurodegeneration in multiple sclerosis; University of Tasmania (UTAS)
ARDC Data Retention Project Phase 1: Existing Collections; Australian Research Data Commons (ARDC)
Combining deep sequencing and linkage approaches to identify rare variants contributing to familial prostate cancers; Cancer Council of Tasmania (CCT)
Does a familial gene variant drive neurodegeneration in Multiple Sclerosis?; Brain Foundation (BrainF)
Epigenomics of familial prostate cancer; Cancer Council of Tasmania (CCT)
Familial Haematological Malignancies: understanding the role of inherited causative factors; Cancer Council of Tasmania (CCT)
Finding glaucoma susceptibility variants by sequencing large families known to carry disease genes; National Health & Medical Research Council (NHMRC)
Gene Identification for Keratoconus - a Blinding Eye Disease; National Health & Medical Research Council (NHMRC)
Genetic aetiology of familial haematological malignancies; Cancer Council of Tasmania (CCT)
How do rare genetic variants cause multiple sclerosis? ; Menzies Institute for Medical Research (MIMR)
Identification of susceptibility genes for familial haematological malignancies; Leukaemia Foundation (LF)
Identifying inherited factors underlying familial haematological malignancies; David Collins Leukaemia Foundation (DCLF)
Identifying pathological pathways and putative therapeutics for the treatment of nervous system pathology in people with Multiple Sclerosis; Royal Hobart Hospital Research Foundation (RHHRF)
Identifying rare genetic variants conferring susceptibility to multiple sclerosis; National Health & Medical Research Council (NHMRC)
Integrative genomic approaches to understanding the genetics of prostate cancer; Cancer Australia (CANCA)
Investigating glutamate transporters in the brain?; University of Tasmania (UTAS)
Investigating the role of short tandem repeat sequence variation in multiple sclerosis.; Multiple Sclerosis Australia (MSA)
Molecular phenotypes of primary open angle glaucoma; National Institutes of Health (NIH)
Node GPU and large memory servers for the ARDC Nectar Research Cloud ; Australian Research Data Commons (ARDC)
Refreshing the TPAC NeCTAR Cloud Node; Australian Research Data Commons (ARDC)
Tasmanian Genetic Research in Inherited Disease (TasGRID); University of Tasmania (UTAS)
The Menzies Multiple Sclerosis Flagship Program; Medical Research Future Fund (MRFF)
The modulation of multiple sclerosis (MS) relapse risk by genetic variations in the LRP2 gene; Royal Hobart Hospital Research Foundation (RHHRF)
To search for genetic causes of renal disease in the Tiwi Island Aboriginal population; National Health & Medical Research Council (NHMRC)
Combining neuroimaging and genomics to elucidate the mechanisms surrounding neurodegeneration
Identifying the Underlying Genetic Drivers of IPF using Complementary Approaches

Research Candidate Supervision

Dissecting the Genetics Architecture of Multiple Sclerosis
Epigenomic and Genomic Analysis of Familial Prostrate Cancer.
Identification of Susceptibility Genes for Familial Haematological Malignancies
Identifying Genetic Variants and Environmental Factors Influencing MS Pathological Processes
The Influence of HLA_DRA15 on Multiple Sclerosis