Web Access Research Portal

Researcher: Charlesworth, JC (Dr Jac Charlesworth)

Research Fields

Genomics
Central Nervous System
Quantitative Genetics (incl. Disease and Trait Mapping Genetics)
Medical Genetics (excl. Cancer Genetics)
Neurogenetics
Epigenetics (incl. Genome Methylation and Epigenomics)
Ophthalmology
Epidemiology
Cancer Genetics
Rheumatology and Arthritis
Biostatistics
Haematology
Cancer Cell Biology
Genetics
Population, Ecological and Evolutionary Genetics
Molecular Targets
Vision Science
Gene Expression (incl. Microarray and other genome-wide approaches)
Clinical Chemistry (diagnostics)
Animal Immunology
Medical Biochemistry: Amino Acids and Metabolites
Cell Metabolism
Neurology and Neuromuscular Diseases
Clinical Sciences
Oncology and Carcinogenesis
Solid Tumours

Research Impact

Nervous System and Disorders
Expanding Knowledge in the Biological Sciences
Inherited Diseases (incl. Gene Therapy)
Hearing, Vision, Speech and Their Disorders
Cancer and Related Disorders
Skeletal System and Disorders (incl. Arthritis)
Immune System and Allergy
Expanding Knowledge in the Medical and Health Sciences
Cardiovascular System and Diseases
Neurodegenerative Disorders Related to Ageing
Urogenital System and Disorders
Preventive Medicine
Diabetes
Health Related to Ageing
Blood Disorders
Aboriginal and Torres Strait Islander Health - Determinants of Health
Tobacco
Reproductive System and Disorders
Men's Health
Expanding Knowledge in Psychology and Cognitive Sciences

Career Best Publications

Discovery of expression QTLs using large-scale transcriptional profiling in human lymphocytes; Nature Genetics
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
High dimensional endophenotype ranking in the search for major depression risk genes; Biological Psychiatry
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
Toward the identification of causal genes in complex diseases: a gene-centric joint test of significance combining genomic and transcriptomic data; BMC proceedings
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

Research Publications

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 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 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 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
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
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
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
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
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
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
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
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
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
Toward the identification of causal genes in complex diseases: a gene-centric joint test of significance combining genomic and transcriptomic data; BMC proceedings
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

Research Projects

Combining deep sequencing and linkage approaches to identify rare variants contributing to familial prostate cancers; Cancer Council of Tasmania (CCT)
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 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)
Molecular phenotypes of primary open angle glaucoma; National Institutes of Health (NIH)
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

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