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Jac Charlesworth

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Jac Charlesworth

Senior Research Fellow - Computational Genomics
Menzies Institute for Medical Research

Room 438B, Medical Science 2, Hobart CBD Campuses

+61 3 6226 4607 (phone)

+61 3 6226 7704 (fax)

Jac.Charlesworth@utas.edu.au

Complex diseases that involve multiple genes interacting with the environment have traditionally been very difficult to study compared to diseases that are caused by a variation in a single gene. However, recent advances that allow the rapid sequencing of the vast amount of DNA that makes up a person’s genome, together with the computing power to analyse and make sense of this data, are helping scientists begin to untangle these complex diseases.

Searching for critical clues in our DNA

In her work at the Menzies Institute for Medical Research, Dr Jac Charlesworth uses these tools – known as computational genomics – to study complex neurological diseases, in particular multiple sclerosis (MS). MS is a devastating neurological condition that affects young adults in which a person’s own immune system attacks their brain and spinal cord.

Dr Charlesworth carries out genome sequencing studies to identify genetic variations that contribute to the risk of developing MS. She believes families hold the key to understanding why some people are susceptible to immune system attack and why some people are not. By sequencing the genomes of people in families where there are an unusual number of MS cases, she looks for differences in the genetic profiles of people with and without the disease.

‘Families already have very similar genomes, so it makes it easier to find the big differences that relate to MS,’ she says.

Tasmania, with its isolation and relatively stable population, is an ideal place for Dr Charlesworth’s research. ‘The people of Tasmania are amazing; they’re prepared to be involved in these studies and they are enthusiastic about participating.’

Some 200 genetic variations are already known to contribute to the risk of developing MS but, together, they still account for less than 50 per cent of the total genetic risk. ‘Many of these genetic variations have only a very small influence on the overall risk,’ Dr Charlesworth says. ‘I am interested in identifying those genes that are relatively large contributors to disease risk at the level of the individual person.’

When Dr Charlesworth finds a genetic variation that seems to be important, she works with colleagues at the Menzies Institute to grow stem cells from people with the mutation. These stem cells can then be turned into different nerve cells and the differences between cells with the mutation and those without can be studied. In particular, she looks for genetic variations that affect the proper development and maintenance of the nervous system in people with MS, for example, the laying down of the myelin sheath around nerve cells.

Working with these cells, Dr Charlesworth and her colleagues can also study the effectiveness of drugs against MS. There is no cure for MS and currently the only real option is to switch off parts of the immune system. ‘We are interested in finding drug targets that can aid in neural protection and repair. The hope is to find drugs that can be used to protect people who are at risk and that are also effective in treating people who already have the disease.’

Dr Charlesworth runs a computational genomics research group at the Menzies Institute for Medical Research at UTAS. She has a particular interest in complex disease gene discovery using next-gen sequencing in large families, and of using 'normal' population variation to inform disease research. She is a statistical geneticist with a background in molecular biology, allowing her to occupy the interface between data analysis and biological interpretation.

Dr Charlesworth is currently hunting for genetic variation underpinning neurological disorders including multiple sclerosis, eye diseases including glaucoma, and other complex traits including cancers, diabetes and brain structural variation. She also manages the computational infrastructure for genomics research at Menzies, and provides bioinformatics training and support.

Biography

Dr Charlesworth obtained her PhD in statistical genetics from the University of Tasmania in 2006. She then spent four years as a postdoctoral fellow at the Texas Biomedical Research Institute (formerly Southwest Foundation for Biomedical Research) in the USA. In 2010 she returned to Australia where she is now a Senior Research Fellow in computational genomics at the Menzies Institute for Medical Research; providing analytical support to a wide range of studies at the institute while maintaining her own research into complex disease.

Career summary

Qualifications

  • PhD, University of Tasmania, Australia, 2006. Investigating the genetics of primary-open angle glaucoma in Tasmania
  • BSc (1st Class Hons), University of Tasmania, Australia, 1999. The refinement of two novel type-1 diabetes susceptibility regions on human chromosome 8
  • BSc, University of Tasmania, Australia, 1998. Biochemistry/Microbiology double major

Memberships

Professional practice

  • Australasian Genomic Technologies Association (AGTA) – Executive Member. Jac represents Tasmania on the AGTA executive. AGTA is the peak professional society representing Australasian researchers in high throughput genomic technologies
  • ANZGene Consortium for Multiple Sclerosis Genetics Research – Member
  • Australian Bioinformatics and Computational Biology Society (ABACBS) – Member
  • NHMRC Grant review panel member 2013 and 2014

Teaching

Bioinformatics, Computational Biology, Human Genetics (CEA301), Research Project in Health and Disease (CBA344)

Teaching expertise

  • Computational genomics workshops
  • Complex disease genetics (undergraduate)
  • Research projects in health and disease (undergraduate)
  • Post-graduate training in the analysis of genomic data, bioinformatics, complex disease and/or familial genetics
  • Honours in the analysis of genomic data, bioinformatics, complex disease and/or familial genetics

Teaching responsibility

Research Appointments

  • NHMRC grant review panel member 2013 and 2014
  • Australasian Genomics Technologies Association Executive representative for Tasmania

View more on Dr Jac Charlesworth in WARP

Expertise

  • Computational genomics
  • Complex disease genetics
  • Glaucoma
  • Multiple sclerosis
  • Neurodegeneration
  • Neurogenetics
  • Bioinformatics
  • Ophthalmic genetics
  • Extended pedigree studies
  • Next-generation sequencing analysis
  • Genomics
  • Transcriptomics
  • Network analysis

Research Themes

Dr Charlesworth's research equally spans two of the University's research themes; Better Health and Data Knowledge and Decisions.

  • Better Health: Dr Charlesworth's research primarily utilises genomic data derived from extended pedigrees to identify genetic variants underpinning complex human diseases, with a particular focus on Tasmanian cohorts in an attempt to improve the health of our community.
  • Data Knowledge and Decisions: Her research is also reliant on large datasets generated by next-generation genomic technologies that provide complex computational problems for analysis. Her research is intimately connected with the field of bioinformatics and requires specialist computational resources. Dr Charlesworth is heavily involved in increasing bioinformatics and computational genomics teaching and training opportunities in Tasmania; and in increasing and supporting the computational resources available for genomics research in Tasmania.

Collaboration

Dr Charlesworth works in close collaboration with the South Texas Diabetes and Obesity Institute, at the University of Texas Rio Grande Valley in the USA. She is mentored by Professor John Blangero and has long running collaborations with many members of the institute. Their shared research interests include complex disease genetics and the use of extended pedigrees for gene identification. Dr Charlesworth has been working with Professor Blangero and his team since 2004She also collaborates closely with Dr Mary Wirtz from the Casey Eye Institute at the Oregon Health and Science University in the USA. Dr Wirtz and Dr Charlesworth have been working together on ophthalmic genetics since 2006.

Current projects

  1. The genetics of Primary Open Angle Glaucoma (POAG): This project uses genome sequencing from large families enriched for glaucoma and aims to identify genetic variants involved in the pathogenesis if this disease. This project is part of a wider interest in ophthalmic genetics in collaboration with her Menzies colleague Assoc Prof Kathryn Burdon.
  2. The genetic architecture of Multiple Sclerosis (MS): Dr Charlesworth is tackling multiple sclerosis from two angles. One involves whole genome sequencing of families with several MS cases to identify family specific variants influencing the risk of this condition. The second utilises information from large families without MS to identify genes and pathways involved in white matter lesion susceptibility and repair, in an attempt to gain a better understanding of the neurological component of MS independent of the immune system dysfunction (Collaboration with Prof Bruce Taylor).
  3. Genetics of familial cancers: Dr Charlesworth also works on several cancer genetics projects, primarily using next-generation sequencing and other genomic data to identify genetic variants influencing risk of cancers including leukaemias and prostate cancer (Collaboration with Assoc Prof Jo Dickinson).
  4. Transcriptomic epidemiology of smoking: Dr Charlesworth also runs a project looking at the influence of cigarette smoking, as an environmental variable, on gene expression.

Dr Charlesworth has many other ongoing research interests and projects, including the computational intricacies of familial genomic analyses, the genomics of complex traits including brain structure and function, diabetes, renal failure and familial cancers.

Fields of Research

  • Genomics (060408)
  • Quantitative Genetics (incl. Disease and Trait Mapping Genetics) (060412)
  • Bioinformatics (060102)

Research Objectives

  • Inherited Diseases (incl. Gene Therapy) (920110)
  • Hearing, Vision, Speech and Their Disorders (920107)
  • Nervous System and Disorders (920111)

Publications

In the last 10 years Dr Charlesworth has published in highly regarded journals such as Nature Genetics, Biological Psychiatry, PNAS, Investigative Ophthalmology and Visual Science (IOVS), Diabetes, PLoS One and Circulation.

Some highlights include a co-first author paper on the transcriptomics of brain aging (Neuroimage 2013) and related collaborative work on white matter integrity (Glahn et al. PNAS 2013); work on endophenotype ranking for neurogenetics (Glahn et al. Biological Psychiatry 2012), a major analytical contribution to a seminal Nature Genetics publication on eQTL identification in lymphocytes (Göring et al. Nature Genetics 2007), her own work developing novel methods for combining evidence from multiple sources of genomic data (Charlesworth et al. BMC Proc 2009) and her own research into the influence of cigarette smoking on gene expression (Charlesworth et al. BMC Medical Genomics 2010).

Dr Charlesworth has also been consistently active in the field of ophthalmic genetics, with many recent publications, including Charlesworth et al. IOVS 2010, investigating glaucoma related endophenotypes.

Total publications

83

Journal Article

(61 outputs)
YearCitationAltmetrics
2019Zhang Y, Zhou Y, van der Mei IAF, Simpson Jr S, Ponsonby A-L, et al., 'Lipid-related genetic polymorphisms significantly modulate the association between lipids and disability progression in multiple sclerosis', Journal of Neurology, Neurosurgery and Psychiatry pp. 1-6. ISSN 0022-3050 (2019) [Refereed Article]

DOI: 10.1136/jnnp-2018-319870 [eCite] [Details]

Co-authors: Zhang Y; Zhou Y; van der Mei IAF; Simpson Jr S; Tettey P; Taylor BV

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2018Burdon KP, McComish BJ, Charlesworth JC, 'Progress and challenges in genome-wide studies to understand the genetics of diabetic retinopathy', Annals of Eye Science, 3 Article 46. ISSN 2520-4122 (2018) [Refereed Article]

DOI: 10.21037/aes.2018.08.04 [eCite] [Details]

Co-authors: Burdon KP; McComish BJ

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2018Lucas SEM, Zhou T, Blackburn NB, Mills RA, Ellis J, et al., 'Rare, potentially pathogenic variants in 21 keratoconus candidate genes are not enriched in cases in a large Australian cohort of European descent', PLoS One, 13, (6) Article e0199178. ISSN 1932-6203 (2018) [Refereed Article]

DOI: 10.1371/journal.pone.0199178 [eCite] [Details]

Co-authors: Lucas SEM; Blackburn NB; Burdon KP

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2018Mitrovic M, Patsopoulos NA, Beecham AH, Dankowski T, Goris A, et al., 'Low-frequency and rare-coding variation contributes to multiple sclerosis risk', Cell, 175, (6) pp. 1679-1687. ISSN 0092-8674 (2018) [Refereed Article]

DOI: 10.1016/j.cell.2018.09.049 [eCite] [Details]

Citations: Scopus - 2Web of Science - 2

Co-authors: Taylor B

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2018Patchett AL, Wilson R, Charlesworth JC, Corcoran LM, Papenfuss AT, et al., 'Transcriptome and proteome profiling reveals stress-induced expression signatures of imiquimod-treated Tasmanian devil facial tumor disease (DFTD) cells', OncoTarget, 9, (22) pp. 15895-15914. ISSN 1949-2553 (2018) [Refereed Article]

DOI: 10.18632/oncotarget.24634 [eCite] [Details]

Citations: Scopus - 2

Co-authors: Patchett AL; Wilson R; Lyons AB; Woods GM; Tovar C

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2018Peralta JM, Blackburn NB, Porto A, Blangero J, Charlesworth J, 'Genome-wide linkage scan for loci influencing plasma triglyceride levels', BMC Proceedings, 12, (Suppl 9) Article 52. ISSN 1753-6561 (2018) [Refereed Article]

DOI: 10.1186/s12919-018-0137-6 [eCite] [Details]

Citations: Scopus - 3

Co-authors: Blackburn NB; Blangero J

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2018Zhou Y, Chen M, Simpson Jr S, Lucas RM, Charlesworth JC, et al., 'Common genetic variation within miR-146a predicts disease onset and relapse in multiple sclerosis', Neurological Sciences, 39, (2) pp. 297-304. ISSN 1590-1874 (2018) [Refereed Article]

DOI: 10.1007/s10072-017-3177-1 [eCite] [Details]

Citations: Scopus - 2Web of Science - 1

Co-authors: Zhou Y; Simpson Jr S; Blackburn N; van der Mei I; Taylor BV

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2018Glahn DC, Nimgaonkar VL, Raventos H, Contreras J, McIntosh AM, et al., 'Rediscovering the value of families for psychiatric genetics research', Molecular Psychiatry pp. 1-13. ISSN 1359-4184 (2018) [Refereed Article]

DOI: 10.1038/s41380-018-0073-x [eCite] [Details]

Citations: Scopus - 2Web of Science - 1

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2017FitzGerald LM, Raspin K, Marthick JR, Field MA, Malley RC, et al., 'Impact of the G84E variant on HOXB13 gene and protein expression in formalin-fixed, paraffin-embedded prostate tumours', Scientific Reports, 7, (1) Article 17778. ISSN 2045-2322 (2017) [Refereed Article]

DOI: 10.1038/s41598-017-18217-w [eCite] [Details]

Citations: Scopus - 3Web of Science - 2

Co-authors: FitzGerald LM; Raspin K; Marthick JR; Malley RC; Blackburn NB; Banks A; Dickinson JL

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2017Nicol D, Eckstein L, Morrison M, Sherkow JS, Otlowski M, et al., 'Key challenges in bringing CRISPR-mediated somatic cell therapy into the clinic', Genome Medicine, 9, (1) Article 85. ISSN 1756-994X (2017) [Contribution to Refereed Journal]

DOI: 10.1186/s13073-017-0475-4 [eCite] [Details]

Citations: Scopus - 3Web of Science - 3

Co-authors: Nicol D; Eckstein L; Otlowski M; Burdon KP; Chalmers D; Dickinson JL; Hewitt AW; Mackey DA; Nielsen J; McWhirter RE

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2017Zhou Y, Graves JS, Simpson S, Charlesworth JC, van der Mei I, et al., 'Genetic variation in the gene LRP2 increases relapse risk in multiple sclerosis', Journal of Neurology, Neurosurgery and Psychiatry, 88, (10) pp. 864-868. ISSN 0022-3050 (2017) [Refereed Article]

DOI: 10.1136/jnnp-2017-315971 [eCite] [Details]

Citations: Scopus - 5Web of Science - 3

Co-authors: Zhou Y; Simpson S; van der Mei I; Taylor BV

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2017Zhou Y, Simpson Jr S, Charlesworth JC, van der Mei I, Lucas RM, et al., 'Variation within MBP gene predicts disease course in multiple sclerosis', Brain and Behavior, 7, (4) Article e00670. ISSN 2162-3279 (2017) [Refereed Article]

DOI: 10.1002/brb3.670 [eCite] [Details]

Citations: Scopus - 3Web of Science - 3

Co-authors: Simpson Jr S; van der Mei I; Taylor BV

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2017Blackburn NB, Marthick JR, Banks A, Charlesworth JC, Marsden KA, et al., 'Evaluating a CLL susceptibility variant in ITGB2 in families with multiple sub-types of hematological malignancies', Blood, 130, (1) pp. 86-88. ISSN 0006-4971 (2017) [Refereed Article]

DOI: 10.1182/blood-2017-03-774232 [eCite] [Details]

Citations: Scopus - 1Web of Science - 1

Co-authors: Blackburn NB; Marthick JR; Banks A; Lowenthal RM; Dickinson JL

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2017Lucas SEM, Zhou T, Blackburn NB, Mills RA, Ellis J, et al., '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), 58, (14) pp. 6248-6256. ISSN 0146-0404 (2017) [Refereed Article]

DOI: 10.1167/iovs.17-22417 [eCite] [Details]

Citations: Scopus - 3Web of Science - 2

Co-authors: Lucas SEM; Blackburn NB; Burdon KP

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2016Pan G, Simpson Jr S, van der Mei I, Charlesworth JC, Lucas R, et al., 'Role of genetic susceptibility variants in predicting clinical course in multiple sclerosis: a cohort study', Journal of Neurology, Neurosurgery and Psychiatry, 87, (11) pp. 1204-1211. ISSN 0022-3050 (2016) [Refereed Article]

DOI: 10.1136/jnnp-2016-313722 [eCite] [Details]

Citations: Scopus - 15Web of Science - 13

Co-authors: Simpson Jr S; van der Mei I; Zhou Y; Wu F; Taylor BV

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2016Zhou Y, Zhu G, Charlesworth JC, Simpson Jr S, Rubicz R, et al., 'Genetic loci for Epstein-Barr virus nuclear antigen-1 are associated with risk of multiple sclerosis', Multiple Sclerosis Journal, 22, (13) pp. 1655-1664. ISSN 1352-4585 (2016) [Refereed Article]

DOI: 10.1177/1352458515626598 [eCite] [Details]

Citations: Scopus - 12Web of Science - 8

Co-authors: Zhou Y; Simpson Jr S; Wu F; van der Mei I; Taylor BV

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2016Cazaly E, Thomson R, Marthick JR, Holloway AF, Charlesworth J, et al., 'Comparison of pre-processing methodologies for Illumina 450k methylation array data in familial analyses', Clinical Epigenetics, 8, (1) Article 75. ISSN 1868-7083 (2016) [Refereed Article]

DOI: 10.1186/s13148-016-0241-2 [eCite] [Details]

Citations: Scopus - 3Web of Science - 4

Co-authors: Cazaly E; Thomson R; Marthick JR; Holloway AF; Dickinson JL

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2015Cazaly E, Charlesworth J, Dickinson JL, Holloway AF, 'Genetic determinants of epigenetic patterns: providing insight into disease', Molecular Medicine, 21 pp. 400-409. ISSN 1076-1551 (2015) [Refereed Article]

DOI: 10.2119/molmed.2015.00001 [eCite] [Details]

Citations: Scopus - 5Web of Science - 5

Co-authors: Cazaly E; Dickinson JL; Holloway AF

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2015Field J, Shahijanian F, Schibeci S, Johnson L, Gresle M, et al., 'The MS risk allele of CD40 is associated with reduced cell-membrane bound expression in antigen presenting cells: implications for gene function', PLoS One, 10, (6) Article e0127080. ISSN 1932-6203 (2015) [Refereed Article]

DOI: 10.1371/journal.pone.0127080 [eCite] [Details]

Citations: Scopus - 14Web of Science - 11

Co-authors: Taylor B

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2015Lin R, Taylor BV, Charlesworth J, van der Mei I, Blizzard L, et al., 'Modulating effects of WT1 on interferon-β-vitamin D association in MS', Acta Neurologica Scandinavica, 131, (4) pp. 231-239. ISSN 0001-6314 (2015) [Refereed Article]

DOI: 10.1111/ane.12315 [eCite] [Details]

Citations: Scopus - 9Web of Science - 10

Co-authors: Taylor BV; van der Mei I; Blizzard L; Stewart N; Pittas F; Simpson JR S

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2015Simpson Jr S, Stewart N, van der Mei I, Otahal P, Charlesworth J, et al., '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, 86 pp. 200-207. ISSN 0022-3050 (2015) [Refereed Article]

DOI: 10.1136/jnnp-2013-307336 [eCite] [Details]

Citations: Scopus - 18Web of Science - 11

Co-authors: Simpson Jr S; Stewart N; van der Mei I; Otahal P; Blizzard L; Pittas F; Taylor B

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2015Zhou Y, Taylor B, van der Mei I, Stewart N, Charlesworth J, et al., 'Genetic variation in PBMC-produced IFN-γ and TNF-α associations with relapse in multiple sclerosis', Journal of The Neurological Sciences, 349, (1-2) pp. 40-44. ISSN 0022-510X (2015) [Refereed Article]

DOI: 10.1016/j.jns.2014.12.022 [eCite] [Details]

Citations: Scopus - 1Web of Science - 1

Co-authors: Zhou Y; Taylor B; van der Mei I; Stewart N; Blizzard L; Pittas F; Simpson Jr S

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2015Blackburn NB, Charlesworth JC, Marthick JR, Tegg EM, Marsden KA, et al., 'A retrospective examination of mean relative telomere length in the Tasmanian Familial Hematological Malignancies Study', Oncology Reports, 33, (1) pp. 25-32. ISSN 1791-2431 (2015) [Refereed Article]

DOI: 10.3892/or.2014.3568 [eCite] [Details]

Citations: Scopus - 6Web of Science - 6

Co-authors: Blackburn NB; Marthick JR; Tegg EM; Marsden KA; Lowenthal RM; Dickinson JL

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2014Lin R, Taylor BV, Simpson Jr S, Charlesworth J, Ponsonby A-L, et al., 'Association between multiple sclerosis risk-associated SNPs and relapse and disability - a prospective cohort study', Multiple Sclerosis, 20, (3) pp. 313-321. ISSN 1352-4585 (2014) [Refereed Article]

DOI: 10.1177/1352458513496882 [eCite] [Details]

Citations: Scopus - 16Web of Science - 13

Co-authors: Taylor BV; Simpson Jr S; Pittas F; van der Mei I

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2014Rubicz R, Yolken R, Alaedini A, Drigalenko E, Charlesworth JC, et al., 'Genome-wide genetic and transcriptomic investigation of variation in antibody response to dietary antigens', Genetic Epidemiology, 38, (5) pp. 439-446. ISSN 0741-0395 (2014) [Refereed Article]

DOI: 10.1002/gepi.21817 [eCite] [Details]

Citations: Scopus - 3Web of Science - 3

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2014Shahijanian F, Parnell GP, McKay FC, Gatt PN, Shojoei M, et al., 'The CYP27B1 variant associated with an increased risk of autoimmune disease is underexpressed in tolerizing dendritic cells', Human Molecular Genetics, 23, (6) pp. 1425-1434. ISSN 1460-2083 (2014) [Refereed Article]

DOI: 10.1093/hmg/ddt529 [eCite] [Details]

Citations: Scopus - 22Web of Science - 23

Co-authors: Taylor B

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2014Zhou Y, Simpson Jr S, Holloway AF, Charlesworth J, van der Mei I, et al., 'The potential role of epigenetic modifications in the heritability of multiple sclerosis', Multiple Sclerosis Journal, 20, (2) pp. 135-140. ISSN 1352-4585 (2014) [Refereed Article]

DOI: 10.1177/1352458514520911 [eCite] [Details]

Citations: Scopus - 19Web of Science - 20

Co-authors: Zhou Y; Simpson Jr S; Holloway AF; van der Mei I; Taylor BV

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2014Zochling J, Newell F, Charlesworth JC, Leo P, Stankovich J, et al., 'An Immunochip-based interrogation of scleroderma susceptibility variants identifies a novel association at DNASE1L3', Arthritis Research & Therapy, 16, (5) Article 438. ISSN 1478-6362 (2014) [Refereed Article]

DOI: 10.1186/s13075-014-0438-8 [eCite] [Details]

Citations: Scopus - 21Web of Science - 19

Co-authors: Zochling J; Stankovich J; Zhou Y

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2014Lin R, Taylor BV, Simpson Jr S, Charlesworth J, Ponsonby A-L, et al., '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, 85, (4) pp. 399-404. ISSN 0022-3050 (2014) [Refereed Article]

DOI: 10.1136/jnnp-2013-305245 [eCite] [Details]

Citations: Scopus - 20Web of Science - 18

Co-authors: Taylor BV; Simpson Jr S; Pittas F; van der Mei IAF

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2013Carless MA, Kulkarni H, Kos MZ, Charlesworth J, Peralta JM, et al., 'Genetic effects on DNA methylation and its potential relevance for obesity in Mexican Americans', PL o S One, 8, (9) Article e73950. ISSN 1932-6203 (2013) [Refereed Article]

DOI: 10.1371/journal.pone.0073950 [eCite] [Details]

Citations: Scopus - 24Web of Science - 21

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2013Cortes A, Field J, Glazov EA, Hadler J, Stankovich J, et al., 'Resequencing and fine-mapping of the chromosome 12q13-14 locus associated with multiple sclerosis refines the number of implicated genes', Human Molecular Genetics, 22, (11) pp. 2283-2292. ISSN 0964-6906 (2013) [Refereed Article]

DOI: 10.1093/hmg/ddt062 [eCite] [Details]

Citations: Scopus - 14Web of Science - 11

Co-authors: Stankovich J; Taylor B

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2013Glahn DC, Kent Jr JW, Sprooten E, Diego VP, Winkler AM, et al., '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, 110, (47) pp. 19006-19011. ISSN 0027-8424 (2013) [Refereed Article]

DOI: 10.1073/pnas.1313735110 [eCite] [Details]

Citations: Scopus - 35Web of Science - 35

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2013Kochunov P, Charlesworth J, Winkler A, Hong LE, Nichols TE, et al., 'Transcriptomics of cortical gray matter thickness decline during normal aging', Neuroimage, 82 pp. 273-283. ISSN 1053-8119 (2013) [Refereed Article]

DOI: 10.1016/j.neuroimage.2013.05.066 [eCite] [Details]

Citations: Scopus - 12Web of Science - 11

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2013Lin R, Charlesworth J, Stankovich J, Perreau VM, Brown MA, et al., 'Identity-by-Descent Mapping to Detect Rare Variants Conferring Susceptibility to Multiple Sclerosis', PLoS ONE, 8, (3) Article e56379. ISSN 1932-6203 (2013) [Refereed Article]

DOI: 10.1371/journal.pone.0056379 [eCite] [Details]

Citations: Scopus - 12Web of Science - 11

Co-authors: Stankovich J; Taylor BV

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2012Bastarrachea RA, Gallegos-Cabriales EC, Nava-Gonzalez EJ, Haack K, Voruganti VS, et al., '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, 3, (4) pp. 596S-604S. ISSN 2161-8313 (2012) [Refereed Article]

DOI: 10.3945/an.112.001925 [eCite] [Details]

Citations: Scopus - 5Web of Science - 5

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2012Cox HC, Lea RA, Bellis C, Carless M, Dyer TD, et al., 'A genome-wide analysis of 'Bounty' descendants implicates several novel variants in migraine susceptibility', Neurogenetics, 13, (3) pp. 261-266. ISSN 1364-6753 (2012) [Refereed Article]

DOI: 10.1007/s10048-012-0325-x [eCite] [Details]

Citations: Scopus - 19Web of Science - 21

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2012Diego VP, Curran JE, Charlesworth J, Peralta JM, Voruganti VS, et al., '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, 133, (1) pp. 11-19. ISSN 0047-6374 (2012) [Refereed Article]

DOI: 10.1016/j.mad.2011.11.007 [eCite] [Details]

Citations: Scopus - 1

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2012Glahn DC, Curran JE, Winkler AM, Carless MA, Kent Jr JW, et al., 'High dimensional endophenotype ranking in the search for major depression risk genes', Biological Psychiatry, 71, (1) pp. 6-14. ISSN 0006-3223 (2012) [Refereed Article]

DOI: 10.1016/j.biopsych.2011.08.022 [eCite] [Details]

Citations: Scopus - 122Web of Science - 104

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2012Kent Jr JW, Goring HHH, Charlesworth JC, Drigalenko E, Diego VP, et al., 'Genotype age interaction in human transcriptional ageing', Mechanisms of Ageing and Development, 133, (9-10) pp. 581-590. ISSN 0047-6374 (2012) [Refereed Article]

DOI: 10.1016/j.mad.2012.07.005 [eCite] [Details]

Citations: Scopus - 18Web of Science - 16

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2012Maher BH, Lea RA, Benton M, Cox HC, Bellis C, et al., 'An X chromosome association scan of the Norfolk Island genetic isolate provides evidence for a novel migraine susceptibility locus at Xq12', PLoS One, 7, (5) Article e37903. ISSN 1932-6203 (2012) [Refereed Article]

DOI: 10.1371/journal.pone.0037903 [eCite] [Details]

Citations: Scopus - 9Web of Science - 9

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2012Cox HC, Lea RA, Bellis C, Nyholt DR, Dyer TD, et al., 'Heritability and genome-wide linkage analysis of migraine in the genetic isolate of Norfolk Island', Gene, 494, (1) pp. 119-123. ISSN 0378-1119 (2012) [Refereed Article]

DOI: 10.1016/j.gene.2011.11.056 [eCite] [Details]

Citations: Scopus - 13Web of Science - 13

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2011Almasy L, Dyer TD, Peralta JM, Kent Jr JW, Charlesworth JC, et al., 'Genetic Analysis Workshop 17 mini-exome simulation', BMC Proceedings, 5, (Supplement 9) Article S2. ISSN 1753-6561 (2011) [Refereed Article]

DOI: 10.1186/1753-6561-5-S9-S2 [eCite] [Details]

Citations: Scopus - 82

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2010Charlesworth J, Kramer PL, Dyer T, Diego V, Samples JR, et al., '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, 51, (7) pp. 3509-3514. ISSN 0146-0404 (2010) [Refereed Article]

DOI: 10.1167/iovs.09-4786 [eCite] [Details]

Citations: Scopus - 59Web of Science - 57

Co-authors: Mackey DA; Hewitt AW

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2010Charlesworth JC, Curran JE, Johnson MP, Goring HHH, Dyer TD, et al., 'Transcriptomic epidemiology of smoking: the effect of smoking on gene expression in lymphocytes ', B M C Medical Genomics, 3, (29) EJ ISSN 1755-8794 (2010) [Refereed Article]

DOI: 10.1186/1755-8794-3-29 [eCite] [Details]

Citations: Scopus - 66Web of Science - 62

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2010Field J, Browning SR, Johnson LJ, Danoy P, Varney MD, et al., 'A polymorphism in the HLA-DPB1 gene is associated with susceptibility to multiple sclerosis', PLoS ONE, 5, (10) EJ ISSN 1932-6203 (2010) [Refereed Article]

DOI: 10.1371/journal.pone.0013454 [eCite] [Details]

Citations: Scopus - 36Web of Science - 29

Co-authors: Foote SJ; Taylor BV; Stankovich J

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2010Gawrieh S, Baye TM, Carless M, Wallace J, Komorowski R, et al., 'Hepatic Gene Networks in Morbidly Obese Patients With Nonalcoholic Fatty Liver Disease', Obesity Surgery: Including Laparoscopy and Allied Care, 20, (12) pp. 1698-1709. ISSN 0960-8923 (2010) [Refereed Article]

DOI: 10.1007/s11695-010-0171-6 [eCite] [Details]

Citations: Scopus - 21Web of Science - 20

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2010Wirtz MK, Samples JR, Toumanidou V, Charlesworth JC, Mikropoulos DG, et al., 'Association of POAG Risk Factors and the Thr377Met MYOC Mutation in an Isolated Greek Population', Investigative Ophthalmology and Visual Science (Iovs), 51, (6) pp. 3055-3060. ISSN 0146-0404 (2010) [Refereed Article]

DOI: 10.1167/iovs.09-4652 [eCite] [Details]

Citations: Scopus - 5Web of Science - 3

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2009Charlesworth JC, Peralta JM, Drigalenko E, Goring HHH, Almasy L, et al., 'Toward the identification of causal genes in complex diseases: a gene-centric joint test of significance combining genomic and transcriptomic data', BMC proceedings, 3 Suppl 7 pp. S92. ISSN 1753-6561 (2009) [Refereed Article]

DOI: 10.1186/1753-6561-3-S7-S92 [eCite] [Details]

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2009Cox HC, Bellis C, Lea RA, Quinlan S, Hughes R, et al., 'Principal component and linkage analysis of cardiovascular risk traits in the Norfolk Isolate ', Human Heredity: International Journal of Human and Medical Genetics, 68, (1) pp. 55-64 . ISSN 0001-5652 (2009) [Refereed Article]

DOI: 10.1159/000210449 [eCite] [Details]

Citations: Scopus - 11Web of Science - 10

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2009Landers JA, Hewitt AW, Dimasi DP, Charlesworth JC, Straga T, et al., 'Heritability of Central Corneal Thickness in Nuclear Families ', Investigative Ophthalmology and Visual Science (Iovs), 50, (9) pp. 4087-4090 . ISSN 0146-0404 (2009) [Refereed Article]

DOI: 10.1167/iovs.08-3271 [eCite] [Details]

Citations: Scopus - 28Web of Science - 30

Co-authors: Hewitt AW; Mackey DA; Burdon KP

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2008Bellis C, Cox HC, Dyer TD, Charlesworth JC, Begley KN, et al., 'Linkage mapping of CVD risk traits in the isolated Norfolk Island population ', Human Genetics, 124, (5) pp. 543-552. ISSN 0340-6717 (2008) [Refereed Article]

DOI: 10.1007/s00439-008-0580-y [eCite] [Details]

Citations: Scopus - 18Web of Science - 18

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2008Moses EK, Johnson MP, Tommerdal L, Forsmo S, Curran JE, et al., 'Genetic association of preeclampsia to the inflammatory response gene SEPS1 ', American Journal of Obstetrics and Gynecology, 198, (3) pp. 336.e1-336.e5. ISSN 0002-9378 (2008) [Refereed Article]

DOI: 10.1016/j.ajog.2007.09.024 [eCite] [Details]

Citations: Scopus - 44Web of Science - 32

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2008Viel K, Charlesworth JC, Tejero E, Dyer T, Cole S, et al., 'A linkage analysis of cigarette and alcohol consumption in an unselected Mexican American population', American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics , 147B, (6) pp. 983-986. ISSN 1552-4841 (2008) [Refereed Article]

DOI: 10.1002/ajmg.b.30661 [eCite] [Details]

Citations: Scopus - 3Web of Science - 3

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2008Burdon KP, Coster DJ, Charlesworth JC, Mills RA, Laurie KJ, et al., 'Apparent autosomal dominant keratoconus in a large Australian pedigree accounted for by digenic inheritance of two novel loci', Human Genetics, 124, (4) pp. 379-386 . ISSN 0340-6717 (2008) [Refereed Article]

DOI: 10.1007/s00439-008-0555-z [eCite] [Details]

Citations: Scopus - 42Web of Science - 40

Co-authors: Burdon KP; Hewitt AW

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2007Curran JE, Johnson MP, Dyer TD, Goring HHH, Kent JW, et al., 'Genetic determinants of mitochondrial content', Human Molecular Genetics, 16, (12) pp. 1504-1514. ISSN 0964-6906 (2007) [Refereed Article]

DOI: 10.1093/hmg/ddm101 [eCite] [Details]

Citations: Scopus - 33Web of Science - 32

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2007Goring HHH, Curran JE, Johnson MP, Dyer TD, Charlesworth JC, et al., 'Discovery of expression QTLs using large-scale transcriptional profiling in human lymphocytes', Nature Genetics, 39, (10) pp. 1208-1216. ISSN 1061-4036 (2007) [Refereed Article]

DOI: 10.1038/ng2119 [eCite] [Details]

Citations: Scopus - 398Web of Science - 369

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2007Swartz MD, Thomas DC, Daw EW, Group-11, 'Model selection and Bayesian methods in statistical genetics: summary of group 11 contributions to Genetic Analysis Workshop 15', Genetic Epidemiology, 31, (Supplement 1) pp. S96-S102. ISSN 0741-0395 (2007) [Refereed Article]

DOI: 10.1002/gepi.20285 [eCite] [Details]

Citations: Scopus - 5Web of Science - 4

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2006Charlesworth JC, Stankovich J, Mackey DA, Craig JE, Haybittel M, et al., 'Confirmation of the Adult-Onset Primary Open Angle Glaucoma Locus GLC1B at 2cen-q13 in an Australian Family', Ophthalmologica, 220, (1) pp. 23-30. ISSN 0030-3755 (2006) [Refereed Article]

DOI: 10.1159/000089271 [eCite] [Details]

Citations: Scopus - 7Web of Science - 4

Co-authors: Stankovich J; Mackey DA; Craig JE; Sale MM

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2005Charlesworth JC, Dyer TD, Stankovich J, Blangero J, Mackey DA, et al., '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, 46, (10) pp. 3723-3729. ISSN 0146-0404 (2005) [Refereed Article]

DOI: 10.1167/iovs.05-0312 [eCite] [Details]

Citations: Scopus - 39Web of Science - 35

Co-authors: Stankovich J; Mackey DA; Foote SJ; Sale MM

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2002Sale MM, Craig JE, Charlesworth JC, Fitzgerald LM, Hanson I, et al., 'Broad Phenotypic variability in a Single Pedigree With a Novel 1410delC Mutation in the PST Domain of the PAX6 Gene', Human Mutation, 20, (4) pp. 322. ISSN 1098-1004 (2002) [Refereed Article]

DOI: 10.1002/humu.9066 [eCite] [Details]

Citations: Scopus - 31Web of Science - 34

Co-authors: Sale MM; Craig JE; Fitzgerald LM; Dickinson JL; Mackey DA

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2002Sale MM, Fitzgerald LM, Charlesworth JC, Bowden D, Rich S, 'Evidence for a Novel Type 1 Diabetes Susceptibility Locus on Chromosome 8', Diabetes, 51, (Supplement 3) pp. S316-S319. ISSN 0012-1797 (2002) [Refereed Article]

DOI: 10.2337/diabetes.51.2007.S316 [eCite] [Details]

Citations: Web of Science - 9

Co-authors: Sale MM; Fitzgerald LM

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Review

(2 outputs)
YearCitationAltmetrics
2012Lin R, Charlesworth J, van der Mei I, Taylor BV, 'The genetics of multiple sclerosis', Practical Neurology, 12, (5) pp. 279-288. ISSN 1474-7758 (2012) [Substantial Review]

DOI: 10.1136/practneurol-2012-000276 [eCite] [Details]

Citations: Scopus - 26

Co-authors: van der Mei I; Taylor BV

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2011Simpson Jr S, Greenhill K, Van der Mei I, Stankovich J, Charlesworth J, et al., 'The Varied Mechanisms of Vitamin D in the Onset and Clinical Course of MS: Potential Roles in Modulating Other Etiological Pathways', Current Medical Literature. Neurology, 27, (1) pp. 1-14. (2011) [Substantial Review]

[eCite] [Details]

Co-authors: Simpson Jr S; Greenhill K; Van der Mei I; Stankovich J; Taylor BVM

Conference Publication

(20 outputs)
YearCitationAltmetrics
2015Martin TM, Johnson MP, Castro LE, Charlesworth JC, Maykoski JK, et al., 'Interrogating Heritability and Common Variants in Extended Pedigrees with Age-Related Macular Degeneration', ARVO 2015 Annual Meeting, 3- 7 May, 2015, Denver, Colorado (2015) [Conference Extract]

[eCite] [Details]

2015Zhou Y, Zhu GA, Nyholt DR, Charlesworth JC, Simpson JR Steve, et al., 'Multiple Quantitative Trait Loci for Anti-EBNA-1 IgG Titres are Associated with Risk of Multiple Sclerosis', Multiple Sclerosis Journal, pp. 810. ISSN 1352-4585 (2015) [Conference Extract]

[eCite] [Details]

Co-authors: Zhou Y; Zhu GA; Nyholt DR; Simpson JR Steve; Van der Mei IAF; Taylor BVM

2014Lester S, Patterson K, Walker J, Charlesworth JC, Stankovich J, et al., 'Associations between HLA DRB1 Alleles and Autoantibodies in Systemic Sclerosis', Internal Medicine Journal, Vol 44, pp. 2-2. ISSN 1444-0903 (2014) [Conference Extract]

DOI: 10.1111/imj.12428 [eCite] [Details]

Co-authors: Stankovich J; Zochling J

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2012Charlesworth J, Stankovich J, Lewis P, Byron J, Stevens W, et al., 'An Immunochip Based Interrogation of Scleroderma Susceptibility Variants', Internal Medicine Journal, Vol 42, pp. 2-2. ISSN 1444-0903 (2012) [Conference Extract]

[eCite] [Details]

Co-authors: Stankovich J; Lewis P; Zochling J

2012Charlesworth J, Stankovich J, Lewis P, Byron J, Stevens W, et al., 'An Immunochip-Based Interrogation of Scleroderma Susceptibility Variants', Rheumatology, Vol 51, pp. 15-16. ISSN 1462-0324 (2012) [Conference Extract]

[eCite] [Details]

Co-authors: Stankovich J; Lewis P; Zochling J

2012Lin R, Perreau V, Glazov E, McMorran B, Bahlo M, et al., 'Searching for rare variants conferring susceptibility to multiple sclerosis', Multiple Sclerosis Journal; Progress in MS Research Conference, 2011, Melbourne, Australia, pp. 701-702; Vol 18. (2012) [Conference Extract]

[eCite] [Details]

Co-authors: McMorran B; Foote S; Thomson R; Taylor B; Stankovich J

2011Charlesworth JC, 'Hunting for Disease Genes in Healthy Brains', Abstracts of Australian and New Zealand Association of Neurologists Annual Scientific Meeting, 16-19 May 2011, Hotel Grand Chancellor, Hobart, Australia EJ (2011) [Conference Extract]

[eCite] [Details]

2011Charlesworth JC, Glahn DC, Curran JE, Kochunov P, Stankovich J, et al., 'Using normal variation in neuroanatomic traits to identify genes and pathways influencing disease: a joint linkage and association analysis of brain lesions', Proceedings of the 8th GeneMappers Conference, 4-6 April 2011, Hotel Grand Chancellor, Hobart, Australia, pp. 56. (2011) [Conference Extract]

[eCite] [Details]

Co-authors: Stankovich J; Taylor BVM

2011Glahn DC, Carless MA, Kent JW, Winkler AM, Curran JE, et al., 'Endophenotype Ranking Facilitates Identification of Novel QTLs for Recurrent Major Depression', Biological Psychiatry 69 (9), Supplement: 66th Annual Scientific Convention and Meeting, Society of Biological Psychiatry, 12-14 May 2011, San Francisco, California, pp. 63s. (2011) [Conference Extract]

[eCite] [Details]

2010Glahn DC, Winkler AM, Curran JE, Carless MA, Charlesworth JC, et al., 'Genome-Wide Combined Linkage/Association Scan Localizes Two QTLs Influencing Human Caudate Volume', Biological Psychiatry 67 (9), Supplement: 65th Annual Scientific Convention and Meeting, Society of Biological Psychiatry, 20-22 May 2010, New Orleans, Louisiana, pp. 127s. (2010) [Conference Extract]

[eCite] [Details]

2010Kent JW, Bastarrachea RA, Haack K, Higgins PB, Charlesworth JC, et al., 'Synchronous In-Vivo Large-Scale Transcriptional Profiling in Human Peripheral Blood Mononuclear Cells, Myocytes and Adipocytes', Obesity 18 (Supplement 2): Obesity 2010 Annual Scientific Meeting Abstracts, 8-12 October 2010, San Diego, California, pp. S71. (2010) [Conference Extract]

[eCite] [Details]

2009Charlesworth JC, Glahn DC, Curran JE, Winkler A, Carless M, et al., 'Genome-wide association of human amygdala volume identifies a QTL at IRX2', The American Society of Human Genetics 59th Annual Meeting, Platform Abstracts, 20-24 October 2009, Honolulu, Hawaii, pp. 7. (2009) [Conference Extract]

[eCite] [Details]

2009Charlesworth JC, Kent Jr JW, Dyer TD, Curran JE, Carless MA, et al., 'Combining linkage, genome-wide association and large-scale transcriptional profiling and to identify genes related to total antioxidant status', Proceedings of the 7th Australian Gene Mapping Conference 2009, 14-17 April 2009, NSW (2009) [Conference Extract]

[eCite] [Details]

2008Charlesworth JC, Curran JE, Johnson MP, Goring HHH, Dyer TD, et al., '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 Abstracts, 11-15 November 2008, Philadelphia, Pennsylvania, pp. 53. (2008) [Conference Extract]

[eCite] [Details]

2008Kent JW, Charlesworth JC, Goring HHH, Curran JE, Johnson MP, et al., 'Genotype by Diabetes Duration Interaction Effects on Gene Expression', American Diabetes Association 68th Scientific Sessions 2008, Abstracts, 6-10 June 2008, San Francisco, California EJ (2008) [Conference Extract]

[eCite] [Details]

2007Charlesworth JC, Curran JE, Johnson MP, Goring HHH, Dyer TD, et al., 'Transcriptomic epidemiology of smoking', Proceedings of the 6th Australian Gene Mapping Conference 2007, 29-31 August 2007, Brisbane, pp. 11. (2007) [Conference Extract]

[eCite] [Details]

2007Charlesworth JC, Curran JE, Johnson MP, Goring HHH, Dyer TD, et al., 'Large scale transcriptional profiling for the identification of genes influencing total antioxidant status in relation to atherosclerosis and cardiovascular disease risk', Programme, 3rd International Meeting on Genetics of Complex Diseases and Isolated Populations, 26-29 May 2007, Turin, Italy, pp. 53-54. (2007) [Conference Extract]

[eCite] [Details]

2006Charlesworth JC, Curran JE, Johnson MP, Goring HHH, Dyer TD, et al., 'Genetic analysis of transcriptional profiles for the identification of genes influencing obesity', Abstract/Session Information, American Society of Human Genetics, 56th Annual Meeting, October 9-13, 2006, New Orleans, Louisiana EJ (2006) [Conference Extract]

[eCite] [Details]

2005Charlesworth JC, Dyer TD, Stankovich J, Blangero J, Mackey DA, et al., 'The application of a population based ascertainment correction for the variance components analysis of quantitative traits in a single extended pedigree', Abstract, 23-25 November 2005, Mt. Buller, Victoria (2005) [Conference Extract]

[eCite] [Details]

Co-authors: Stankovich J; Mackey DA; Foote SJ; Sale MM

2000Wirth G, Sale MM, Mackey DA, Russell-Eggitt I, Craig JE, et al., 'Inheritance of paediatric and congenital cataracts', The Association for Research in Vision and Ophthalmology, April 30-May 5,2000, Fort Lauderdale, Florida, pp. S2. (2000) [Conference Extract]

[eCite] [Details]

Co-authors: Sale MM; Mackey DA; Craig JE

Grants & Funding

Since completing her PhD in 2006 Dr Charlesworth played a direct role in obtaining over $9 million of research funding, including two US based National Institutes of Health (NIH) R01 grants during her postdoctoral fellowship in Texas.

Since starting at Menzies in 2010 she has been lead investigator (CIA) on two Category 1 grants, both funded by the NHMRC. The first, focussed on multiple sclerosis, was successfully completed in 2013 and generated a large amount of valuable genomic data that is aiding our ongoing research into rare genetic variants underpinning disease susceptibility. Her second NHMRC grant was successfully funded in 2013 is targeted at using next-generation sequencing of 250 individuals from five large families to identify genetic variants influencing primary open angle glaucoma.

Dr Charlesworth is also a co-investigator on several other NHMRC funded project investigating multiple sclerosis, renal failure in Indigenous populations and ophthalmic genetics.

She has also been well supported from community and philanthropic sources, particularly the Marmion Family of San Antonio who fund some of her multiple sclerosis research. These resources are particularly important as the often allow researchers to work on high-risk high-reward studies and generate invaluable pilot data for larger funding applications.

Funding Summary

Number of grants

21

Total funding

$7,418,317

Projects

Identifying the Underlying Genetic Drivers of IPF using Complementary Approaches (2018 - 2022)$1,174,559
Description
In the first instance the goal is to define the contribution of genetic variants to IPF in the Australian population, and we are in a unique position in Australia through our collaboration with Professor Schwartz. Our focus in this particular project is on rare genetic variation, and whilst it is likely that common variation will be similar to other mostly Caucasian populations there are likely to be differences in the rare variants in genes contributing to disease in the different populations. It is therefore important that these types of studies are performed in our population if we are going to understand the biology of disease in our patients. As discussed the identification of rare variants underpinning complex disease is proving fruitful both in understanding the biology of disease, the spectrum of clinical manifestations observed and importantly providing new potential targets for therapy.
Funding
Lung Foundation Australia ($1,174,559)
Scheme
Contract Research
Administered By
University of Tasmania
Research Team
Dickinson JL; Corte T; Holloway AF; Charlesworth JC; Walters EH; Wood-Baker R
Period
2018 - 2022
Investigating glutamate transporters in the brain? (2018)$10,186
Description
Too much of a good thing can be bad, especially when it comes to the brain. Glutamate is an important signalling molecule that allows nerves to talk to each other, but it can be toxic if too much is present. The brain has protective machinery in place to move glutamate into cells where it can be detoxified, but if this transport machinery fails, the brain can be damaged. People with multiple sclerosis (MS) have abnormally high levels of glutamate outside of brain cells, both within brain lesions and in seemingly healthy parts of the brain. Dysfunction of the glutamate uptake machinery may be responsible, or at the very least contribute to higher glutamate levels and cause further damage in MS. However, we currently know very little about the levels of the glutamate uptake machinery in healthy people. The main aim of this project will be to examine glutamate uptake machinery in the brains of healthy people, in order to establish appropriate background data so that this information will be available for future studies in MS brain. In addition, I will undertake some studies in mouse brain, to determine if this would be an appropriate model for future MS studies.
Funding
University of Tasmania ($10,186)
Scheme
Grant- Research Enhancement Program
Administered By
University of Tasmania
Research Team
Beasley SJ; Young Kaylene; Dickson TC; Charlesworth JC; Taylor BVM
Year
2018
A family-based approach to studying neurodegeneration in multiple sclerosis (2018)$24,928
Description
Multiple sclerosis (MS) is the most common, disabling nervous system disease in young adults. In MS,the immune system attacks the brain and spinal cord, and current treatments act to suppress theimmune system not repair the damage. This project studies the genetics of families with MS todetermine why some people are more susceptible to nerve damage following the immune attack. Weuse whole genome sequencing of all closely related individuals in families, including three of morepeople with MS, and study their genomes to find the genetic differences between affected andunaffected relatives. This work will find new MS risk genes that can be further studied by ourlaboratory-based stem cell biology team using cell-based models of disease. The research willultimately lead to treatments aimed at protecting or repairing the nervous system.
Funding
University of Tasmania ($24,928)
Scheme
Grant- Research Enhancement Program
Administered By
University of Tasmania
Research Team
Charlesworth JC; Young Kaylene; Burdon KP; Taylor BVM; McComish BJ
Year
2018
Investigating the role of short tandem repeat sequence variation in multiple sclerosis. (2018)$25,000
Description
We will use data from extended families with a dense clustering of MS cases to identify rare short tandem repeat variants associated with multiple sclerosis. Highly ranked variants will be further investigated in MS and control cohorts to identify correlations between STR allele length and the severity and age of onset of MS.
Funding
Multiple Sclerosis Research Australia ($25,000)
Scheme
Grant-Incubator
Administered By
University of Tasmania
Research Team
McComish BJ; Charlesworth JC; Burdon KP
Year
2018
Identifying pathological pathways and putative therapeutics for the treatment of nervous system pathology in people with Multiple Sclerosis (2018 - 2020)$448,999
Description
DNA sequencing of Tasmanian families with multiple closely related MS cases has implicated the GRIK4 gene in the development of this disease. This project aims to understand how GRIK4 affects the central nervous system, determine its role in disease pathogenesis, and repurpose existing pharmaceuticals targeting this pathway to offset neurodegeneration.
Funding
Royal Hobart Hospital Research Foundation ($448,999)
Scheme
Grant-Major Project
Administered By
University of Tasmania
Research Team
Pitman KA; Young Kaylene; Taylor BVM; Charlesworth JC; Hewitt A
Period
2018 - 2020
The modulation of multiple sclerosis (MS) relapse risk by genetic variations in the LRP2 gene (2018)$24,933
Description
This work will sequence the associated LRP2 gene region to identify the functional variants that modulate MS relapse risk, which is the primary endpoint of many pivotal clinical trials testing the efficacy of MS disease-modifying drugs.
Funding
Royal Hobart Hospital Research Foundation ($24,933)
Scheme
Grant-Minor Project
Administered By
University of Tasmania
Research Team
Zhou Y; Taylor BVM; Charlesworth JC; Burdon KP
Year
2018
Gene Identification for Keratoconus - a Blinding Eye Disease (2016 - 2018)$912,880
Description
Keratoconus is a disease of the cornea at the front of the eye characterized by progressive corneal thinning and conical protrusion, leading to severe vision loss and potentially blindness. The causes are not understood and current treatments are invasive and suboptimal. Keratoconus has a major genetic component, most of which remains unexplained. We will identify novel genes and variants contributing to keratoconus risk with the aim of increasing understanding of the molecular causes of this disease. We will apply state-of-the art whole genome sequencing technology to a traditional family based gene discovery approach, incorporating linkage analysis to guide variant prioritization in large families with autosomal dominant keratoconus. Genes in which we identify candidate mutations will be re-sequenced in our unique Australian cohort of 672 keratoconus patients to identify additional variants contributing to disease in these genes. Genome-wide association studies for keratoconus and the endophenotype of central corneal thickness have recently identified four loci reaching robust statistical significance for association with keratoconus. We will dissect these loci to identify the likely causative variants through detailed fine mapping and re-sequencing of the risk haplotype in our cohort. Bioinformatics will be used to rank variants for their likely involvement and to prioritise them for future functional work. These experiments will be further complemented by our International collaborations allowing access to data from additional keratoconus cases in which high ranked variants will be assessed for association. We will also investigate the expression level of genes at each of the loci in diseased and normal cornea to determine if these are the genes influenced by the observed SNP associations. In summary, this project will identify novel genes and variants associated with keratoconus, furthering our understanding of the processes underlying this disease.
Funding
National Health & Medical Research Council ($912,880)
Scheme
Grant-Project
Administered By
University of Tasmania
Research Team
Burdon KP; Charlesworth JC; Baird P; Mills R; Sharma S
Period
2016 - 2018
Grant Reference
1104700
How do rare genetic variants cause multiple sclerosis? (2016)$35,000
Description
To determine how rare genetic variants, identified by whole-genome sequencing multiple sclerosis (MS) families, influence cell function.
Funding
Menzies Institute for Medical Research ($35,000)
Scheme
Grant - Development Grant
Administered By
University of Tasmania
Research Team
Charlesworth JC; Young Kaylene; Pitman KA
Year
2016
Tasmanian Genetic Research in Inherited Disease (TasGRID) (2015 - 2016)$200,000
Description
The aim of this project is to generate􀀿 "genomics hub" building on current research expertise, laboratory facilities, analytical capabilities, by providing a co-ordinated administration hub and core genomics reference resource. The Menzies has a strategic focus on utilising the unique features of the Tasmanian population for health research Including genomlcs to address the burden of disease in Tasmania. A/Prof Dickinson's team has attracted nationally competitive funding to build expertise, bioinformatics analysis skills in genomics, a laboratory facility equipped with next generation sequencing technology and a computing facility. The funding requested will address two immediate needs a "genomics hub" co-ordinator, anda Tasmanian reference genome database.This will facilitate expansion of genomics research in Tasmania, by providing the necessary foundation for leveraging external funding, providing world-class training opportunities for students and importantly will position the University to keep pace internationally in the field of genomics.
Funding
University of Tasmania ($200,000)
Scheme
Grant-Strategic Research
Administered By
University of Tasmania
Research Team
Dickinson JL; Burdon KP; Charlesworth JC; Chalmers DRC; Nicol D; Maxwell-Stewart HJ
Period
2015 - 2016
Familial Haematological Malignancies: understanding the role of inherited causative factors (2014)$20,000
Description
Genetic factors are known to contribute to the risk of developing haematological malignancies, however to date the underlying genetic drivers of disease development remain largely unknown. Knowing the causative genes is not only important in understanding the disease process but also provides a range of benefits in the diagnosis, development of tailored treatments, and identification of new targets for therapy. Studying families with multiple cases of these diseases is a powerful approach used to identify the causative genes.
Funding
Cancer Council of Tasmania ($20,000)
Scheme
Grant-Cancer Research
Administered By
University of Tasmania
Research Team
Dickinson JL; Charlesworth JC; Foote SJ; Thomson RJ; Holloway AF; Lowenthal RM
Year
2014
Combining neuroimaging and genomics to elucidate the mechanisms surrounding neurodegeneration (2013 - 2015)$101,665
Description
This project involves the analysis of the "Genetics of Brain Structure" (GOBS) and Australian MS genomics data specifically focused on phenotypes relevant to neurodegeneration, lesion formation and multiple sclerosis.
Funding
Texas Biomedical Research Institute ($101,665)
Scheme
Grant - Institutional
Administered By
University of Tasmania
Research Team
Charlesworth JC
Period
2013 - 2015
Finding glaucoma susceptibility variants by sequencing large families known to carry disease genes (2013 - 2015)$671,329
Description
Primary open angle glaucoma is a chronic eye disease and one of the leading causes of visual impairment and blindness worldwide. This study will use cutting-edge genetic methods to look at the entire coding component of the human genome (exome) in 271 individuals from large glaucoma families. Our previous studies have shown that these families carry genetic variants that increase disease risk. This investigation aims to identify these genes, with the hope they may offer novel targets for treatment or diagnosis.
Funding
National Health & Medical Research Council ($671,329)
Scheme
Grant-Project
Administered By
University of Tasmania
Research Team
Charlesworth JC; Blangero J; Mackey D; Burdon KP
Period
2013 - 2015
Grant Reference
1044996
Combining deep sequencing and linkage approaches to identify rare variants contributing to familial prostate cancers (2013 - 2014)$35,000
Funding
Cancer Council of Tasmania ($35,000)
Scheme
Grant-Cancer Research
Administered By
University of Tasmania
Research Team
Dickinson JL; Thomson RJ; Charlesworth JC; Holloway AF; Jarman SN
Period
2013 - 2014
Genetic aetiology of familial haematological malignancies (2013 - 2014)$35,000
Description
The project outlines the genetic analysis of a rare resource, utilising high density SNP genotyping to perform familial linkage analysis of twelve large families. It will identify genes predisposing to haematological malignancies in a novel dataset.
Funding
Cancer Council of Tasmania ($35,000)
Scheme
Grant-Cancer Research
Administered By
University of Tasmania
Research Team
Dickinson JL; Charlesworth JC; Thomson RJ; Lowenthal RM
Period
2013 - 2014
Identifying inherited factors underlying familial haematological malignancies (2012)$49,362
Funding
David Collins Leukaemia Foundation ($49,362)
Scheme
Grant
Administered By
University of Tasmania
Research Team
Dickinson JL; Stankovich J; Charlesworth JC; Lowenthal RM; Marsden KA; Tegg EM
Year
2012
To search for genetic causes of renal disease in the Tiwi Island Aboriginal population (2012 - 2014)$613,169
Funding
National Health & Medical Research Council ($613,169)
Scheme
Grant-Project
Administered By
University of Tasmania
Research Team
Thomson RJ; Hoy W; McMorran BJ; Jose MD; Hilder EF; Charlesworth JC
Period
2012 - 2014
Grant Reference
1024207
Epigenomics of familial prostate cancer (2011)$14,000
Funding
Cancer Council of Tasmania ($14,000)
Scheme
Grant-Small
Administered By
University of Tasmania
Research Team
Charlesworth JC; Holloway AF; Dickinson JL
Year
2011
Identification of susceptibility genes for familial haematological malignancies (2011)$91,224
Funding
Leukaemia Foundation ($91,224)
Scheme
Grant-In-Aid
Administered By
University of Tasmania
Research Team
Dickinson JL; Foote SJ; Stankovich J; Lowenthal RM; Thomson RJ; Tegg EM; Charlesworth JC; Marsden KA
Year
2011
Identifying rare genetic variants conferring susceptibility to multiple sclerosis (2010 - 2011)$286,350
Funding
National Health & Medical Research Council ($286,350)
Scheme
Grant-Project
Administered By
University of Tasmania
Research Team
Charlesworth JC; Perreau V; Gardiner Brooke; McMorran BJ; Taylor BVM; Browning S
Period
2010 - 2011
Grant Reference
605511
Integrative genomic approaches to understanding the genetics of prostate cancer (2009 - 2011)$515,699
Description
The aims of this project are to: 1) examine the contribution of 14 recently identified prostate cancer susceptibility loci to risk of disease in the Tasmanian Familial and Sporadic Prostate Cancer datasets; 2) perform genome-wide linkage analysis of selected large families with an increased incidence of prostate cancer to identify new cancer susceptibility loci; 3) examine these loci in the context of the results obtained from Aims 1-3; 4) prioritise genes lying within candidate intervals using a variety of expression and genomic techniques alongside bioinformatic approaches; and 5) continue to expand the Tasmanian Prostate Cancer Dataset using Tasmanian Cancer Registry records and the Menzies Genealogical Database.
Funding
Cancer Australia ($515,699)
Scheme
Grant-Priority-driven Collab. Cancer Research
Administered By
University of Tasmania
Research Team
Dickinson JL; Foote SJ; Charlesworth JC; Thomson RJ; Bahlo M
Period
2009 - 2011
Molecular phenotypes of primary open angle glaucoma (2007 - 2011)$2,129,034
Funding
National Institutes of Health ($2,129,034)
Scheme
Grant
Administered By
Oregon Health and Science University
Research Team
Wirtz M; Samples J; Kramer P; Charlesworth JC
Period
2007 - 2011

Research Supervision

Dr Charlesworth currently has PhD students working on a variety of projects, primarily around the theme of familial genomics. She co-supervises laboratory-based students who have an analytical component to their research as well as 'dry lab' or purely computational genomics projects.

Her students work on a range of diseases including leukaemia, prostate cancer, multiple sclerosis, glaucoma and keratoconus. She is currently looking for students with a background in mathematics/computer science and an interest in biology.

Current

9

Completed

5

Current

DegreeTitleCommenced
PhDIdentifying Genetic Variation Contributing to Keratoconus2015
PhDL-Proline Metabolism and the Regulation of Embryonic Stem Cell Differentiation and Programming2015
PhDCongenital Cataract Genetics in Australian Families2016
PhDIdentifying Glaucoma Susceptibility Variants by Sequencing Large Families2016
PhDIdentifying Functional Causal Variants in Multiple Sclerosis2017
PhDSequence Based Gene Identification Using Families2017
PhDIdentifying the Cause of Nervous System Damage in Multiple Sclerosis2017
PhDFunctional Evaluation of Mutations in HTR1F and Other Paediatric Cataract Genes2018
PhDGenetic and Environmental Factors Involved in the Onset and Progression of Multiple Sclerosis (MS)2019

Completed

DegreeTitleCompleted
PhDEpigenomic and Genomic Analysis of Familial Prostate Cancer
Candidate: Emma Cazaly
2017
MastersOn the Role of Risk-Associated Genetic Loci in Modulating Clinical Course in Multiple Sclerosis
Candidate: Gongbu Pan
2016
PhDIdentifying Genetic Variants and Environmental Factors Influencing Multiple Sclerosis Pathological Processes
Candidate: Yuan Zhou
2016
PhDIdentifying Genetic Susceptibilities Underlying Familial Haematological Malignancies in a Tasmanian Family Resource
Candidate: Nicholas Bayden Blackburn
2015
PhDDissecting the Genetics Architecture of Multiple Sclerosis
Candidate: Rui Lin
2014