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Alexander Hewitt

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Alex Hewitt

Professor in Ophthalmology
Menzies Institute for Medical Research | Medicine

Hobart CBD Campuses

+61 407359824 (phone)

Alex.Hewitt@utas.edu.au

As well as being a research scientist at the Menzies Institute for Medical Research, Professor Alex Hewitt is also an ophthalmologist. His experience working with patients inspires him to investigate ways to identify and treat people who are predisposed to blinding eye disease.

In his research work, he compares the sequences of DNA that make up the genomes of people with and without common eye diseases like glaucoma and age-related macular degeneration, as well as rare conditions such as retinitis pigmentosa. His team, with collaborators across Australia and internationally, analyses the frequencies of genetic variations and this allows them to identify variations associated with these diseases.

Through this work, and the work of collaborators, a number of genetic variations have been identified.

‘We are now working to bring this new genetic insight back into the clinic through the development and assessment of gene-based risk profiling,’ Professor Hewitt says. ‘This means using the genetic insights we have gained to screen people and identify those at high risk of developing the disease during their lifetime. Potentially, this will allow us to intervene before the disease has progressed.’

He is also using those insights to develop novel gene-based therapies. One promising way forward is the use of CRISPR/Cas technology, a technique for precisely targeting a particular sequence of DNA in a particular gene. ‘CRISPR offers an exciting potential means to treat some monogenic forms of eye disease – particularly when there is just one spelling mistake in one gene.’

While much work remains to be done before CRISPR/Cas would be suitable for the treatment of eye diseases in humans, Professor Hewitt’s group has demonstrated its application in mammalian retina cells.

He also uses CRISPR/Cas to try to understand the precise molecular mechanisms underlying inherited blinding eye diseases. Through collaboration, his group has established a large repository of patient-specific cell lines derived from people with a variety of eye diseases. Stem cell technology makes it possible to study various eye cells, such as photoreceptor cells, from patients without needing to take samples from their eye.

Using CRISPR/Cas, Professor Hewitt and his group introduce targeted variations in specific genes in these cells. They can then study the effects of these changes and gain insights into the role of those genes in the normal development and functioning of the different cells that make up the eye.

‘Better treatments are needed for many common eye diseases, such as glaucoma,’ Professor Hewitt says. ‘The aim of our research is to find cures and it is exciting to know that new therapies may now be within reach.’

Biography

Alex Hewitt is a clinician-scientist. During medical training he completed a B.Med.Sci.(Hons) degree investigating the outcomes of cataract surgery for people living in remote areas of the Northern Territory. In 2001, Alex Hewitt completed his undergraduate medical degree at the University of Tasmania. He obtained his PhD investigating the molecular and phenotypic associations for open angle glaucoma from Flinders University of South Australia in 2009, under the supervision of Professors Jamie Craig and David Mackey. Alex Hewitt completed formal Ophthalmology training at the Royal Victorian Eye and Ear Hospital in Melbourne in 2011, and the following year he was the Novartis Research Fellow at the Lions Eye Institute and was awarded a WA Tall Poppy Award from the Australian Institute of Policy & Science. Alex is currently supported by an NHMRC Practitioner Fellowship.

Career summary

Qualifications

  • PhD, Flinders University of South Australia, 2009
  • Fellowship, Royal Australian and New Zealand College of Ophthalmology, 2013
  • Masters of Medical Science (Clin Epi), Newcastle University, Australia, 2004
  • MBBS (Hons), University of Tasmania, Australia, 2001
  • B Med Sci (Hons), University of Tasmania, 2000

Memberships

Professional practice

Since 2011 Alex has been a member of the research advisory panel of Ophthalmic Research Institute of Australia and in 2012 became a member of the Scientific Advisory Panel of the Arthritis Genomics Recruitment Initiative in Australasia (AGRIA). He has also participated in clinical outreach visits as part of the East Timor Eye Program.

Committee associations

Alex is a member of the International Association for Research in Vision and Ophthalmology, a Fellow of the Royal Australian and New Zealand College of Ophthalmology as well as an International member of the American Academy of Ophthalmology and a member of the Human Genetics Society of Australasia.

Other

In 2012 Alex joined the editorial board of Ophthalmic Genetics as the 'genetic association studies' section editor and in 2014 joined the editorial board of Clinical and Experimental Ophthalmology as the 'genetics' section editor. He has reviewed for over twenty international journals, including the New England Journal of Medicine, Nature Genetics, PLoS One, FEBS, International Journal of Epidemiology, Human Genetics, Invest Ophthalmol Vis Sci, American Journal of Ophthalmology, and Ophthalmology.

Research Invitations

Alex has presented at over 50 National and International meetings, and was invited to speak at the XX International Society for Eye Research meeting in 2012; the 2013 Association for Research in Vision and Ophthalmology annual meeting; and the 5th World Glaucoma Congress in 2013. He has also received numerous awards for scientific presentations (see Research tab).

View more on Professor Alex Hewitt in WARP

Research Themes

Alex's research aligns with one of the University's key research themes of Better Health. His main research interests lie in the molecular mechanisms of ocular disease, in particular the blinding disease glaucoma. He has been involved with work relating to the identification of genes and risk variants associated with primary open-angle glaucoma and myopia, as well as quantitative traits such as central corneal thickness, optic nerve size and the retinal microvascular circulation.

Collaboration

Alex has been actively involved with several research projects including the Glaucoma Inheritance Study in Tasmania, the Norfolk Island Eye Study, the Twins Eye Study, the Australian and New Zealand Registry of Advanced Glaucoma, and is a part of the analytical team of the retinal working group from the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium; the global Consortium for Refractive Error and Myopia (CREAM) and the International Glaucoma Genetics Consortium (IGGC).

Awards

  • Alcon Research Institute Young Investigator Award, Alcon Research Institute, 2012.
  • East Timor Eye Program / Eye Foundation Scholarship, RANZCO Eye Foundation & Hobart Eye Surgeons, 2012.
  • Peter Doherty - Australian Biomedical Fellowship, National Health and Medical Research Council, 2012.
  • Western Australian Young Tall Poppy Award, Australian Institute of Policy & Science, 2012.
  • Sayer Lecture Travel Award, NIH/National Eye Institute, 2012.

Fields of Research

  • Ophthalmology (321201)
  • Vision science (321204)
  • Cellular nervous system (320902)
  • Cell development, proliferation and death (310102)
  • Optical technology (321202)
  • Genomics (310509)
  • Gene mapping (310506)
  • Neurology and neuromuscular diseases (320905)
  • Gene and molecular therapy (320601)
  • Genetic immunology (310507)
  • Gene expression (incl. microarray and other genome-wide approaches) (310505)
  • Medical genetics (excl. cancer genetics) (320213)
  • Optometry (321203)
  • Central nervous system (320903)
  • Genome structure and regulation (310508)
  • Cancer genetics (321103)
  • Molecular targets (321108)
  • Medical molecular engineering of nucleic acids and proteins (320603)
  • Medical and health law (480412)
  • Health promotion (420603)
  • Medical biochemistry - lipids (320504)
  • Ophthalmology and optometry (321299)
  • Biochemistry and cell biology (310199)
  • Cardiology (incl. cardiovascular diseases) (320101)
  • Sensory systems (320907)
  • Cancer cell biology (321101)
  • Health economics (380108)
  • Health and community services (420305)
  • Cell and nuclear division (310502)
  • Neurogenetics (310511)
  • Reproduction (321503)
  • Regenerative medicine (incl. stem cells) (320606)
  • Epidemiology (420299)
  • Surgery (320226)
  • Cell neurochemistry (310104)
  • Health and ecological risk assessment (401104)
  • Genetics (310599)
  • Aquaculture (300501)
  • Dermatology (320205)
  • Information modelling, management and ontologies (460903)
  • Sequence analysis (310206)
  • Genomics and transcriptomics (310204)
  • Molecular medicine (340406)
  • Bioethics (500101)
  • Preventative health care (420605)
  • Animal immunology (310905)
  • Autonomic nervous system (320901)
  • Health services and systems (420399)
  • Paediatrics (321399)
  • Epigenetics (incl. genome methylation and epigenomics) (310504)
  • Cellular immunology (320404)
  • Haematology (320102)
  • Microbial genetics (310704)
  • Haematological tumours (321106)
  • Clinical sciences (320299)
  • Autoimmunity (320403)
  • Tumour immunology (320409)
  • Immunology (320499)
  • Veterinary immunology (300906)
  • Cell metabolism (310103)
  • Medical ethics (500106)
  • Medical biotechnology (320699)
  • Aboriginal and Torres Strait Islander public health and wellbeing (450417)
  • Data communications (400602)

Research Objectives

  • Clinical health (200199)
  • Diagnosis of human diseases and conditions (200101)
  • Treatment of human diseases and conditions (200105)
  • Prevention of human diseases and conditions (200104)
  • Expanding knowledge in the biological sciences (280102)
  • Expanding knowledge in the biomedical and clinical sciences (280103)
  • Expanding knowledge in the health sciences (280112)
  • Public health (excl. specific population health) (200499)
  • Determinants of health (200201)
  • Law reform (230405)
  • Citizenship and national identity (230105)
  • Evaluation of health outcomes (200202)
  • Human pain management (200103)
  • Aquaculture crustaceans (excl. rock lobster and prawns) (100201)
  • Bioethics (130301)
  • Other health (209999)
  • Specific population health (excl. Indigenous health) (200599)
  • Rural and remote area health (200508)
  • Health related to ageing (200502)
  • Health status (incl. wellbeing) (200407)
  • Outpatient care (200308)
  • Terrestrial biodiversity (180606)
  • Health education and promotion (200203)
  • Health policy evaluation (200205)
  • Disease distribution and transmission (incl. surveillance and response) (200404)
  • Preventive medicine (200412)
  • Evaluation of health and support services (200299)
  • Human pharmaceutical treatments (240803)
  • Social structure and health (200207)
  • Control of pests, diseases and exotic species in terrestrial environments (180602)
  • Veterinary diagnostics (241602)
  • Disability and functional capacity (200403)

Publications

Total publications

374

Journal Article

(370 outputs)
YearCitationAltmetrics
2023Gurung RL, FitzGerald LM, Liu E, McComish BJ, Kaidonis G, et al., 'Predictive factors for treatment outcomes with intravitreal anti-vascular endothelial growth factor injections in diabetic macular edema in clinical practice', International Journal of Retina and Vitreous, 9, (1) pp. 1-10. ISSN 2056-9920 (2023) [Refereed Article]

DOI: 10.1186/s40942-023-00453-0 [eCite] [Details]

Co-authors: FitzGerald LM; McComish BJ; Vote BJ; Verma N; Burdon KP

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2023Kumar Satheesh, Fry LE, Wang JH, Martin KR, Hewitt AW, et al., 'RNA-targeting strategies as a platform for ocular gene therapy', Progress in Retinal and Eye Research, 92 Article 101110. ISSN 1350-9462 (2023) [Refereed Article]

DOI: 10.1016/j.preteyeres.2022.101110 [eCite] [Details]

Citations: Scopus - 1

Co-authors: Liu GL

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2023Mackey DA, Ong JS, MacGregor S, Whiteman DC, Craig JE, et al., 'Is the disease risk and penetrance in Leber hereditary optic neuropathy actually low?', American Journal of Human Genetics, 110, (1) pp. 170-176. ISSN 0002-9297 (2023) [Refereed Article]

DOI: 10.1016/j.ajhg.2022.11.014 [eCite] [Details]

Co-authors: Mackey DA

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2023Marshall H, Berry EC, Torres SD, Mullany SD, Schmidt J, et al., 'Association between body mass index and Primary Open Angle Glaucoma in Three Cohorts', American Journal of Ophthalmology, 245 pp. 126-133. ISSN 1879-1891 (2023) [Refereed Article]

DOI: 10.1016/j.ajo.2022.08.006 [eCite] [Details]

Citations: Scopus - 3Web of Science - 2

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2023Siggs OM, Qassim A, Han X, Marshall HN, Mullany S, et al., 'Association of High Polygenic Risk with Visual Field Worsening Despite Treatment in Early Primary Open-Angle Glaucoma', JAMA Ophthalmology, 141, (1) pp. 73-77. ISSN 2168-6165 (2023) [Refereed Article]

DOI: 10.1001/jamaophthalmol.2022.4688 [eCite] [Details]

Citations: Scopus - 1Web of Science - 1

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2023Stellon D, Talbot J, Hewitt AW, King AE, Cook AL, 'Seeing neurodegeneration in a new light using genetically encoded fluorescent biosensors and iPSCs', International Journal of Molecular Sciences, 24, (2) pp. 1-26. ISSN 1422-0067 (2023) [Refereed Article]

DOI: 10.3390/ijms24021766 [eCite] [Details]

Co-authors: Stellon D; Talbot J; King AE; Cook AL

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2023Wang JH, Lin F-L, Chen J, Zhu L, Chuang Y-F, et al., 'TAK1 blockade as a therapy for retinal neovascularization', Pharmacological Research, 187 Article 106617. ISSN 1043-6618 (2023) [Refereed Article]

DOI: 10.1016/j.phrs.2022.106617 [eCite] [Details]

Co-authors: Lin F-L; Zhu L; Chuang Y-F

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2022Burdon KP, Graham P, Hadler J, Hulleman JD, Pasutto F, et al., 'Specifications of the ACMG/AMP variant curation guidelines for myocilin: Recommendations from the clingen glaucoma expert panel', Human Mutation, 43, (12) pp. 2170-2186. ISSN 1059-7794 (2022) [Refereed Article]

DOI: 10.1002/humu.24482 [eCite] [Details]

Citations: Scopus - 1Web of Science - 1

Co-authors: Burdon KP; Graham P; Mackey DA

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2022Chaurasia AK, Greatbatch CJ, Hewitt AW, 'Diagnostic accuracy of artificial intelligence in Glaucoma screening and clinical practice', Journal of Glaucoma, 31, (5) pp. 285-299. ISSN 1536-481X (2022) [Refereed Article]

DOI: 10.1097/IJG.0000000000002015 [eCite] [Details]

Citations: Scopus - 1Web of Science - 1

Co-authors: Chaurasia AK; Greatbatch CJ

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2022Chear S, Perry S, Wilson R, Bindoff A, Talbot J, et al., 'Lysosomal alterations and decreased electrophysiological activity in CLN3 disease patient-derived cortical neurons', Disease Models & Mechanisms, 15, (12) pp. 1-15. ISSN 1754-8403 (2022) [Refereed Article]

DOI: 10.1242/dmm.049651 [eCite] [Details]

Citations: Scopus - 1Web of Science - 1

Co-authors: Chear S; Perry S; Wilson R; Bindoff A; Talbot J; Vickers JC; King AE; Cook AL

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2022Daniszewski M, Senabouth A, Liang HH, Han X, Lidgerwood GE, et al., 'Retinal ganglion cell-specific genetic regulation in primary open-angle glaucoma', Cell Genomics, 2, (6) Article 100142. ISSN 2666-979X (2022) [Refereed Article]

DOI: 10.1016/j.xgen.2022.100142 [eCite] [Details]

Citations: Scopus - 1

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2022Denes CE, Cole AJ, Nguyen Tran MT, Mohd Khalid MKN, Hewitt AH, et al., 'The VEGAS Platform is unsuitable for Mammalian Directed Evolution', ACS Synthetic Biology, 11, (10) pp. 3544-3549. ISSN 2161-5063 (2022) [Refereed Article]

DOI: 10.1021/acssynbio.2c00460 [eCite] [Details]

Co-authors: Nguyen Tran MT

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2022Dyer KIC, Sanfilippo PG, Yazar S, Craig JE, Hewitt AW, et al., 'The relationship between fetal growth and retinal nerve fiber layer thickness in a cohort of young adults', Translational Vision Science and Technology, 11, (7) Article 8. ISSN 2164-2591 (2022) [Refereed Article]

DOI: 10.1167/tvst.11.7.8 [eCite] [Details]

Co-authors: Mackey DA

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2022Gurung RL, Fitzgerald LM, Liu E, McComish BJ, Kaidonis G, et al., 'Identifying genetic biomarkers predicting response to anti-vascular endothelial growth factor injections in diabetic macular edema', International Journal of Molecular Sciences, 23, (7) Article 4042. ISSN 1422-0067 (2022) [Refereed Article]

DOI: 10.3390/ijms23074042 [eCite] [Details]

Citations: Scopus - 3Web of Science - 2

Co-authors: Fitzgerald LM; McComish BJ; Vote BJ; Verma N; Burdon KP

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2022Gurung RL, Fitzgerald LM, Liu E, McComish BJ, Kaidonis G, et al., 'The effect of insulin on response to intravitreal anti-VEGF injection in diabetic macular edema in type 2 diabetes mellitus', BMC Ophthalmology, 22, (1) Article 94. ISSN 1471-2415 (2022) [Refereed Article]

DOI: 10.1186/s12886-022-02325-x [eCite] [Details]

Citations: Web of Science - 1

Co-authors: Fitzgerald LM; McComish BJ; Vote BJT; Verma N; Burdon KP

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2022He G, Dunn HP, Ahmad KE, Watson E, Henderson A, et al., 'Fundoscopy use in neurology departments and the utility of smartphone photography: a prospective prevalence and crossover diagnostic accuracy study amongst neurology inpatients', European journal of neurology, 29, (8) pp. 2463-2472. ISSN 1468-1331 (2022) [Refereed Article]

DOI: 10.1111/ene.15390 [eCite] [Details]

Citations: Scopus - 1Web of Science - 1

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2022He W, Han X, Ong JS, Hewitt AW, MacKey DA, et al., 'Association of Novel Loci With Keratoconus Susceptibility in a Multitrait Genome-Wide Association Study of the UK Biobank Database and Canadian Longitudinal Study on Aging', JAMA Ophthalmology, 140, (6) pp. 568-576. ISSN 2168-6173 (2022) [Refereed Article]

DOI: 10.1001/jamaophthalmol.2022.0891 [eCite] [Details]

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2022Hollitt GL, Siggs OM, Ridge B, Keane MC, Mackey DA, et al., 'Attitudes Toward Glaucoma Genetic Risk Assessment in Unaffected Individuals', Translational Vision Science and Technology, 11, (10) Article 38. ISSN 2164-2591 (2022) [Refereed Article]

DOI: 10.1167/tvst.11.10.38 [eCite] [Details]

Co-authors: Mackey DA

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2022Hollitt GL, Siggs OM, Ridge B, Keane MC, Mackey DA, et al., 'Attitudes towards Polygenic Risk Testing in individuals with Glaucoma', Ophthalmology Glaucoma, 5, (4) pp. 436-446. ISSN 2589-4196 (2022) [Refereed Article]

DOI: 10.1016/j.ogla.2021.11.002 [eCite] [Details]

Citations: Scopus - 4Web of Science - 2

Co-authors: Mackey DA

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2022Kanoni S, Graham SE, Wang Y, Surakka I, Ramdas S, et al., 'Implicating genes, pleiotropy, and sexual dimorphism at blood lipid loci through multi-ancestry meta-analysis', Genome Biology, 23, (1) Article 268. ISSN 1474-7596 (2022) [Refereed Article]

DOI: 10.1186/s13059-022-02837-1 [eCite] [Details]

Citations: Scopus - 2Web of Science - 2

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2022Lee SSY, Mackey DA, Sanfilippo PG, Hewitt AW, Craig JE, 'In Utero exposure to smoking and alcohol, and passive smoking during childhood: effect on the Retinal Nerve Fibre Layer in young adulthood', Ophthalmic Epidemiology, 29, (5) pp. 507-514. ISSN 1744-5086 (2022) [Refereed Article]

DOI: 10.1080/09286586.2021.1968005 [eCite] [Details]

Citations: Scopus - 1Web of Science - 1

Co-authors: Mackey DA

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2022Liu Q, Davis J, Han X, Mackey DA, MacGregor S, et al., 'Cost-effectiveness of polygenic risk profiling for primary open-angle glaucoma in the United Kingdom and Australia', Eye (London) pp. 1-9. ISSN 1476-5454 (2022) [Refereed Article]

DOI: 10.1038/s41433-022-02346-2 [eCite] [Details]

Co-authors: Mackey DA

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2022Mullany S, Marshall H, Diaz-Torres S, Berry EC, Schmidt JM, et al., 'The APOE E4 Allele Is associated with faster rates of neuroretinal thinning in a prospective cohort study of suspect and early Glaucoma', Ophthalmology science, 19, (2) Article 100159. ISSN 2666-9145 (2022) [Refereed Article]

DOI: 10.1016/j.xops.2022.100159 [eCite] [Details]

Citations: Scopus - 1

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2022Nguyen Tran MP, KC R, Hewitt AW, 'A Taxonomic and Phylogenetic Classification of Diverse Base Editors', CRISPR Journal, 5, (2) pp. 311-328. ISSN 2573-1602 (2022) [Refereed Article]

DOI: 10.1089/crispr.2021.0095 [eCite] [Details]

Citations: Scopus - 1Web of Science - 1

Co-authors: Nguyen Tran MP; KC R

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2022Phipson B, Sim CB, Porrello ER, Hewitt AW, Powell J, et al., 'propeller: testing for differences in cell type proportions in single cell data', Bioinformatics (Oxford, England), 38, (20) pp. 4720-4726. ISSN 1367-4811 (2022) [Refereed Article]

DOI: 10.1093/bioinformatics/btac582 [eCite] [Details]

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2022Ramdas S, Judd J, Graham SE, Kanoni S, Wang Y, et al., 'A multi-layer functional genomic analysis to understand noncoding genetic variation in lipids', American Journal of Human Genetics, 109, (8) pp. 1366-1387. ISSN 1537-6605 (2022) [Refereed Article]

DOI: 10.1016/j.ajhg.2022.06.012 [eCite] [Details]

Citations: Scopus - 1Web of Science - 1

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2022Senabouth A, Daniszewski M, Lidgerwood GE, Liang HH, Hernandez D, et al., 'Transcriptomic and proteomic retinal pigment epithelium signatures of age-related macular degeneration', Nature Communications, 13, (1) Article 4233. ISSN 2041-1723 (2022) [Refereed Article]

DOI: 10.1038/s41467-022-31707-4 [eCite] [Details]

Citations: Scopus - 6Web of Science - 6

Co-authors: Verma Nitin

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2022Souzeau E, Siggs OM, Mullany S, Schmidt JM, Hassall MM, et al., 'Diagnostic yield of candidate genes in an Australian corneal dystrophy cohort', Molecular genetics and genomic medicine, 10, (10) Article 2023. ISSN 2324-9269 (2022) [Refereed Article]

DOI: 10.1002/mgg3.2023 [eCite] [Details]

Co-authors: Mackey DA

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2022Urrutia-Cabrera D, Hsiang-Chi Liou R, Lin J, Shi Y, Liu K, et al., 'Combinatorial approach of Binary Colloidal Crystals and CRISPR Activation to Improve Induced Pluripotent Stem Cell Differentiation into Neurons', ACS applied materials & interfaces, 14, (7) pp. 8669-8679. ISSN 1944-8252 (2022) [Refereed Article]

DOI: 10.1021/acsami.1c17975 [eCite] [Details]

Citations: Scopus - 3Web of Science - 3

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2022Wang JH, Chuang Y-F, Chen J, Singh V, Lin F-L, et al., 'An integrative multi-omics analysis reveals microRNA-143 as a potential therapeutic to attenuate retinal angiogenesis', Nucleic Acid Therapeutics, 32, (4) pp. 251-266. ISSN 2159-3337 (2022) [Refereed Article]

DOI: 10.1089/nat.2021.0111 [eCite] [Details]

Citations: Scopus - 1Web of Science - 1

Co-authors: Chuang Y-F; Singh V; Lin F-L; Wilson R

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2022Wang JH, Lidgerwood GE, Daniszewski M, Hu ML, Roberts GE, et al., 'AAV2-mediated gene therapy for Bietti crystalline dystrophy provides functional CYP4V2 in multiple relevant cell models', Scientific Reports, 12, (1) Article 9525. ISSN 2045-2322 (2022) [Refereed Article]

DOI: 10.1038/s41598-022-12210-8 [eCite] [Details]

Citations: Scopus - 1Web of Science - 1

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2022Yazar S, Alquicira-Hernandez J, Wing K, Senabouth A, Gordon MG, et al., 'Single cell eQTL mapping identifies cell type specific genetic control of autoimmune disease', Science, 376, (154) pp. 1-14. ISSN 0036-8075 (2022) [Refereed Article]

DOI: 10.1126/science.abf3041 [eCite] [Details]

Citations: Scopus - 35Web of Science - 34

Co-authors: Wing K; Cook AL; Fairfax KA

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2022Yengo L, Vedantam S, Marouli E, Sidorenko J, Bartell E, et al., 'A saturated map of common genetic variants associated with human height', Nature, 610 pp. 704-712. ISSN 0028-0836 (2022) [Refereed Article]

DOI: 10.1038/s41586-022-05275-y [eCite] [Details]

Citations: Scopus - 15Web of Science - 16

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2022Young TL, Whisenhunt KN, LaMartina SM, Hewitt AW, Mackey DA, et al., 'Sonic Hedgehog Intron Variant associated with an unusual Pediatric Cortical Cataract', Investigative Ophthalmology and Visual Science, 63, (6) Article 25. ISSN 1552-5783 (2022) [Refereed Article]

DOI: 10.1167/iovs.63.6.25 [eCite] [Details]

Co-authors: Mackey DA

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2021Chan E, Chong EW, Lingham G, Stevenson LJ, Sanfilippo PG, et al., 'Prevalence of Keratoconus Based on Scheimpflug Imaging: The Raine Study', Ophthalmology, 128, (4) pp. 515-521. ISSN 0161-6420 (2021) [Refereed Article]

DOI: 10.1016/j.ophtha.2020.08.020 [eCite] [Details]

Citations: Scopus - 38Web of Science - 36

Co-authors: Mackey DA

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2021Chuang Y-F, Phipps AJ, Lin F-L, Hecht V, Hewitt AW, et al., 'Approach for in vivo delivery of CRISPR/Cas system: a recent update and future prospect', Cellular and Molecular Life Sciences, 78, (6) pp. 2683-2708. ISSN 1420-682X (2021) [Refereed Article]

DOI: 10.1007/s00018-020-03725-2 [eCite] [Details]

Citations: Scopus - 21Web of Science - 19

Co-authors: Chuang Y-F; Phipps AJ; Lin F-L; Hecht V; Liu G-S

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2021Currant H, Hysi P, Fitzgerald TW, Gharahkhani P, Bonnemaijer PWM, et al., 'Genetic variation affects morphological retinal phenotypes extracted from UK Biobank optical coherence tomography images', PLoS Genetics, 17, (5) pp. 1-27. ISSN 1553-7390 (2021) [Refereed Article]

DOI: 10.1371/journal.pgen.1009497 [eCite] [Details]

Citations: Scopus - 12Web of Science - 9

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2021Gharahkhani P, Jorgenson E, Hysi P, Khawaja AP, Pendergrass S, et al., 'Genome-wide meta-analysis identifies 127 open-angle glaucoma loci with consistent effect across ancestries', Nature Communications, 12, (1) Article 1258. ISSN 2041-1723 (2021) [Refereed Article]

DOI: 10.1038/s41467-020-20851-4 [eCite] [Details]

Citations: Scopus - 76Web of Science - 64

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2021Graham SE, Clarke SL, Wu KHH, Kanoni S, Zajac GJM, et al., 'The power of genetic diversity in genome wide association studies of lipids', Nature, 600, (7890) pp. 675-679. ISSN 0028-0836 (2021) [Refereed Article]

DOI: 10.1038/s41586-021-04064-3 [eCite] [Details]

Citations: Scopus - 77Web of Science - 69

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2021Gurung RL, Fitzgerald LM, McComish BJ, Hewitt AW, Verma N, et al., 'Comparing vision and macular thickness in neovascular age-related macular degeneration, diabetic macular oedema and retinal vein occlusion patients treated with intravitreal antivascular endothelial growth factor injections in clinical practice', BMJ Open Ophthalmology, 6, (1) pp. 1-10. ISSN 2397-3269 (2021) [Refereed Article]

DOI: 10.1136/bmjophth-2021-000749 [eCite] [Details]

Citations: Scopus - 3Web of Science - 3

Co-authors: Fitzgerald LM; McComish BJ; Verma N; Burdon KP

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Co-authors: King AE; Liu G-S

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2016Hung SSC, McCaughey T, Swann OG, Pebay A, Hewitt AW, 'Genome engineering in ophthalmology: Application of CRISPR/Cas to the treatment of eye disease', Progress in Retinal and Eye Research, 53 pp. 1-20. ISSN 1350-9462 (2016) [Refereed Article]

DOI: 10.1016/j.preteyeres.2016.05.001 [eCite] [Details]

Citations: Scopus - 35Web of Science - 30

Co-authors: Swann OG

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2016Hung SSC, Van Bergen NJ, Jackson S, Liang H, Mackey DA, et al., 'Study of mitochondrial respiratory defects on reprogramming to human induced pluripotent stem cells', Aging, 8, (5) pp. 1-13. ISSN 1945-4589 (2016) [Refereed Article]

DOI: 10.18632/aging.100950 [eCite] [Details]

Citations: Scopus - 33Web of Science - 28

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2016Johnston T, Chandra A, Hewitt AW, 'Current understanding of the genetic architecture of rhegmatogenous retinal detachment', Ophthalmic Genetics, 37, (2) pp. 121-129. ISSN 1381-6810 (2016) [Refereed Article]

DOI: 10.3109/13816810.2015.1033557 [eCite] [Details]

Citations: Scopus - 9Web of Science - 11

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2016Kaidonis G, Gillies MC, Abhary S, Liu E, Essex RW, et al., 'A single-nucleotide polymorphism in the MicroRNA-146a gene is associated with diabetic nephropathy and sight-threatening diabetic retinopathy in Caucasian patients', Acta Diabetologica, 53, (4) pp. 643-650. ISSN 0940-5429 (2016) [Refereed Article]

DOI: 10.1007/s00592-016-0850-4 [eCite] [Details]

Citations: Scopus - 54Web of Science - 53

Co-authors: Burdon KP

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2016Khor CC, Do T, Jia H, Nakano M, George R, et al., 'Genome-wide association study identifies five new susceptibility loci for primary angle closure glaucoma', Nature Genetics, 48, (5) pp. 556-562. ISSN 1061-4036 (2016) [Refereed Article]

DOI: 10.1038/ng.3540 [eCite] [Details]

Citations: Scopus - 108Web of Science - 99

Co-authors: Burdon KP

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2016Lester S, Hewitt AW, Ruediger CD, Bradbury L, De Smit E, et al., 'PTPN22 R620W minor allele is a genetic risk factor for giant cell arteritis', RMD Open, 2, (1) Article e000246. ISSN 2056-5933 (2016) [Refereed Article]

DOI: 10.1136/rmdopen-2016-000246 [eCite] [Details]

Citations: Scopus - 8

Co-authors: Jones G

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2016Lidgerwood GE, Lim SY, Crombie DE, Ali R, Gill KP, et al., 'Defined medium conditions for the induction and expansion of human pluripotent stem cell-derived retinal pigment epithelium', Stem Cell Reviews and Reports, 12, (2) pp. 179-188. ISSN 1550-8943 (2016) [Refereed Article]

DOI: 10.1007/s12015-015-9636-2 [eCite] [Details]

Citations: Scopus - 19Web of Science - 16

Co-authors: Ali R

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2016Mackey DA, Kearns LS, Hewitt AW, 'Gene-Based Therapies for Leber Hereditary Optic Neuropathy. Hype or Hope?', Asia-Pacific Journal of Ophthalmology, 5, (4) pp. 253-255. ISSN 0129-1653 (2016) [Refereed Article]

DOI: 10.1097/APO.0000000000000220 [eCite] [Details]

Citations: Scopus - 2

Co-authors: Mackey DA

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2016McCaughey T, Chen CY, De Smit E, Rees G, Fenwick E, et al., 'Participant understanding and recall of informed consent for induced pluripotent stem cell biobanking', Cell and Tissue Banking, 17, (3) pp. 449-456. ISSN 1389-9333 (2016) [Refereed Article]

DOI: 10.1007/s10561-016-9563-8 [eCite] [Details]

Citations: Scopus - 16Web of Science - 14

Co-authors: Mackey DA; Cook AL

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2016McCaughey T, Liang HH, Chen C, Fenwick E, Rees G, et al., 'An Interactive Multimedia Approach to Improving Informed Consent for Induced Pluripotent Stem Cell Research', Cell Stem Cell, 18, (3) pp. 307-308. ISSN 1934-5909 (2016) [Letter or Note in Journal]

DOI: 10.1016/j.stem.2016.02.006 [eCite] [Details]

Citations: Scopus - 23Web of Science - 24

Co-authors: Vickers JC; Summers MJ

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2016McCaughey T, Sanfilippo PG, Gooden GEC, Budden DM, Li F, et al., 'A global social media survey of attitudes to human genome editing', Cell Stem Cell, 18, (5) pp. 569-572. ISSN 1934-5909 (2016) [Refereed Article]

DOI: 10.1016/j.stem.2016.04.011 [eCite] [Details]

Citations: Scopus - 56Web of Science - 57

Co-authors: Si L

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2016Ng SK, Burdon KP, Fitzgerald JT, Zhou T, Fogarty R, et al., 'Genetic association at the 9p21 glaucoma locus contributes to sex bias in normal-tension glaucoma', Investigative Ophthalmology and Visual Science, 57, (7) pp. 3416-3421. ISSN 1552-5783 (2016) [Refereed Article]

DOI: 10.1167/iovs.16-19401 [eCite] [Details]

Citations: Scopus - 21Web of Science - 21

Co-authors: Burdon KP

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2016Nicol D, Bubela T, Chalmers D, Charbonneau J, Critchley C, et al., 'Precision medicine: drowning in a regulatory soup?', Journal of Law and the Biosciences, 3, (2) pp. 281-303. ISSN 2053-9711 (2016) [Refereed Article]

DOI: 10.1093/jlb/lsw018 [eCite] [Details]

Citations: Scopus - 17Web of Science - 17

Co-authors: Nicol D; Chalmers D; Charbonneau J; Dickinson J; McWhirter R; Otlowski M

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2016Oliver VF, Van Bysterveldt KA, Cadzow M, Steger B, Romano V, et al., 'A COL17A1 splice-altering mutation is prevalent in inherited recurrent corneal erosions', Ophthalmology, 123, (4) pp. 709-722. ISSN 0161-6420 (2016) [Refereed Article]

DOI: 10.1016/j.ophtha.2015.12.008 [eCite] [Details]

Citations: Scopus - 27Web of Science - 22

Co-authors: Mackey DA

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2016Sanfilippo PG, Chu BS, Bigault O, Kearns LS, Boon MY, et al., 'Response: Cycloplegia in refraction: age and cycloplegics', Acta Ophthalmologica, 94, (5) pp. e373. ISSN 1755-375X (2016) [Letter or Note in Journal]

DOI: 10.1111/aos.13082 [eCite] [Details]

Co-authors: Mackey DA

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2016Sanfilippo PG, Huynh E, Yazar S, Hewitt AW, Mackey DA, 'Spectral-Domain Optical Coherence Tomography-Derived Characteristics of Bruch Membrane Opening in a Young Adult Australian Population', American Journal of Ophthalmology, 165 pp. 154-163. ISSN 0002-9394 (2016) [Refereed Article]

DOI: 10.1016/j.ajo.2016.03.008 [eCite] [Details]

Citations: Scopus - 16Web of Science - 14

Co-authors: Mackey DA

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2016Sharma S, Martin S, Sykes MJ, Dave A, Hewitt AW, et al., 'Biological effect of LOXL1 coding variants associated with pseudoexfoliation syndrome', Experimental Eye Research, 146 pp. 212-223. ISSN 0014-4835 (2016) [Refereed Article]

DOI: 10.1016/j.exer.2016.03.013 [eCite] [Details]

Citations: Scopus - 20Web of Science - 18

Co-authors: Burdon KP

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2016Souma T, Tompson SW, Thomson BR, Siggs OM, Kizhatil K, et al., 'Angiopoietin receptor TEK mutations underlie primary congenital glaucoma with variable expressivity', Journal of Clinical Investigation, 126, (7) pp. 2575-2587. ISSN 0021-9738 (2016) [Refereed Article]

DOI: 10.1172/JCI85830 [eCite] [Details]

Citations: Scopus - 116Web of Science - 118

Co-authors: Burdon KP; Mackey DA

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2016Souzeau E, Burdon KP, Mackey DA, Hewitt AW, Savarirayan R, et al., 'Ethical considerations for the return of incidental findings in ophthalmic genomic research', Translational Vision Science and Technology, 5, (1) pp. 1-11. ISSN 2164-2591 (2016) [Refereed Article]

DOI: 10.1167/tvst.5.1.3 [eCite] [Details]

Citations: Scopus - 9Web of Science - 9

Co-authors: Burdon KP; Mackey DA; Otlowski M

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2016Yazar S, Hewitt AW, Forward H, Jacques A, Ing C, et al., 'Early anesthesia exposure and the effect on visual acuity, refractive error, and retinal nerve fiber layer thickness of young adults', The Journal of Pediatrics, 169 pp. 256-259.e1. ISSN 0022-3476 (2016) [Refereed Article]

DOI: 10.1016/j.jpeds.2015.10.048 [eCite] [Details]

Citations: Scopus - 12Web of Science - 11

Co-authors: Mackey DA

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2016Zhou T, Souzeau E, Sharma S, Siggs OM, Goldberg I, et al., 'Rare variants in optic disc area gene CARD10 enriched in primary open-angle glaucoma', Molecular Genetics & Genomic Medicine, 4, (6) pp. 624-633. ISSN 2324-9269 (2016) [Refereed Article]

DOI: 10.1002/mgg3.248 [eCite] [Details]

Citations: Scopus - 9Web of Science - 9

Co-authors: Burdon KP

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2015Ashworth Briggs EL, Toh TY, Eri RD, Hewitt A, Cook AL, 'TIMP1, TIMP2, and TIMP4 are increased in aqueous humor from primary open angle glaucoma patients', Molecular Vision, 21 pp. 1162-1172. ISSN 1090-0535 (2015) [Refereed Article]

PMID: 26539028 [eCite] [Details]

Citations: Web of Science - 31

Co-authors: Ashworth Briggs EL; Eri RD; Cook AL

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2015Aung T, Ozaki M, Mizoguchi T, Allingham RR, Haripriya A, et al., 'A common variant mapping to CACNA1A is associated with susceptibility to exfoliation syndrome', Nature Genetics, 47, (4) pp. 387-392. ISSN 1061-4036 (2015) [Refereed Article]

DOI: 10.1038/ng.3226 [eCite] [Details]

Citations: Scopus - 80Web of Science - 69

Co-authors: Burdon KP

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2015Awadalla MS, Fingert JH, Roos BE, Chen S, Holmes R, et al., 'Copy number variations of TBK1 in Australian patients with primary open-angle glaucoma', American Journal of Ophthalmology, 159, (1) pp. 124-130. ISSN 0002-9394 (2015) [Refereed Article]

DOI: 10.1016/j.ajo.2014.09.044 [eCite] [Details]

Citations: Scopus - 60Web of Science - 54

Co-authors: Burdon KP

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2015Burdon KP, Fogarty RD, Shen W, Abhary S, Kaidonis G, et al., 'Genome-wide association study for sight-threatening diabetic retinopathy reveals association with genetic variation near the GRB2 gene', Diabetologia, 58, (10) pp. 2288-2297. ISSN 0012-186X (2015) [Refereed Article]

DOI: 10.1007/s00125-015-3697-2 [eCite] [Details]

Citations: Scopus - 58Web of Science - 52

Co-authors: Burdon KP

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2015Cuellar-Partida G, Lu Y, Kho PF, Hewitt AW, Wichmann HE, et al., 'Assessing the genetic predisposition of education on myopia: a Mendelian randomization study', Genetic Epidemiology, 40, (1) pp. 66-72. ISSN 0741-0395 (2015) [Refereed Article]

DOI: 10.1002/gepi.21936 [eCite] [Details]

Citations: Scopus - 47Web of Science - 43

Co-authors: Mackey DA

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2015Cuellar-Partida G, Springelkamp H, Lucas SE, Yazar S, Hewitt AW, et al., 'WNT10A exonic variant increases the risk of keratoconus by decreasing corneal thickness', Human Molecular Genetics, 24, (17) pp. 5060-5068. ISSN 0964-6906 (2015) [Refereed Article]

DOI: 10.1093/hmg/ddv211 [eCite] [Details]

Citations: Scopus - 42Web of Science - 41

Co-authors: Lucas SE; Burdon KP

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2015Farr RJ, Januszewski AS, Joglekar MV, Liang H, McAulley AK, et al., 'A comparative analysis of high-throughput platforms for validation of a circulating microRNA signature in diabetic retinopathy', Scientific Reports, 5 Article 10375. ISSN 2045-2322 (2015) [Refereed Article]

DOI: 10.1038/srep10375 [eCite] [Details]

Citations: Scopus - 50Web of Science - 51

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2015Fritsche LG, Igl W, Bailey JN, Grassmann F, Sengupta S, et al., 'A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants', Nature Genetics, 48, (2) pp. 134-143. ISSN 1546-1718 (2015) [Refereed Article]

DOI: 10.1038/ng.3448 [eCite] [Details]

Citations: Scopus - 850Web of Science - 799

Co-authors: Burdon KP; Vote BJ; Mackey DA

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2015Gharahkhani P, Burdon KP, Hewitt AW, Law MH, Souzeau E, et al., 'Accurate imputation-based screening of Gln368Ter myocilin variant in primary open-angle glaucoma', Investigative Ophthalmology and Visual Science, 56, (9) pp. 5087-5093. ISSN 0146-0404 (2015) [Refereed Article]

DOI: 10.1167/iovs.15-17305 [eCite] [Details]

Citations: Scopus - 14Web of Science - 14

Co-authors: Burdon KP; Mackey DA

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2015Johansson P, Aoude LG, Wadt K, Glasson WJ, Warrier SK, et al., 'Deep sequencing of uveal melanoma identifies a recurrent mutation in PLCB4', OncoTarget, 7, (4) pp. 4624-31. ISSN 1949-2553 (2015) [Refereed Article]

DOI: 10.18632/oncotarget.6614 [eCite] [Details]

Citations: Scopus - 190Web of Science - 179

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2015Kaidonis G, Burdon KP, Gillies MC, Abhary S, Essex RW, et al., 'Common sequence variation in the VEGFC gene is associated with diabetic retinopathy and diabetic macular edema', Ophthalmology, 122, (9) pp. 1828-1836. ISSN 0161-6420 (2015) [Refereed Article]

DOI: 10.1016/j.ophtha.2015.05.004 [eCite] [Details]

Citations: Scopus - 20Web of Science - 18

Co-authors: Burdon KP

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2015Li Z, Allingham RR, Nakano M, Jia L, Chen Y, et al., 'A common variant near TGFBR3 is associated with primary open angle glaucoma', Human Molecular Genetics, 24, (13) pp. 3880-3892. ISSN 1460-2083 (2015) [Refereed Article]

DOI: 10.1093/hmg/ddv128 [eCite] [Details]

Citations: Scopus - 80Web of Science - 80

Co-authors: Burdon K; Mackey DA

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2015McAuley AK, Dirani M, Wang JJ, Connell PP, Lamoureux EL, et al., 'A genetic variant regulating miR-126 is associated with sight threatening diabetic retinopathy', Diabetes and Vascular Disease Research, 12, (2) pp. 133-138. ISSN 1479-1641 (2015) [Refereed Article]

DOI: 10.1177/1479164114560160 [eCite] [Details]

Citations: Scopus - 33Web of Science - 30

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2015McKnight CM, Sherwin JC, Yazar S, Forward H, Tan AX, et al., 'Pterygium and conjunctival ultraviolet autofluorescence in young Australian adults: the Raine study', Clinical and Experimental Ophthalmology, 43, (4) pp. 300-307. ISSN 1442-6404 (2015) [Refereed Article]

DOI: 10.1111/ceo.12455 [eCite] [Details]

Citations: Scopus - 28Web of Science - 27

Co-authors: Mackey DA

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2015Meier MH, Gillespie NA, Hansell NK, Hewitt AW, Hickie IB, et al., 'Retinal microvessels reflect familial vulnerability to psychotic symptoms: A comparison of twins discordant for psychotic symptoms and controls', Schizophrenia Research, 164, (1-3) pp. 47-52. ISSN 0920-9964 (2015) [Refereed Article]

DOI: 10.1016/j.schres.2015.01.045 [eCite] [Details]

Citations: Scopus - 39Web of Science - 36

Co-authors: Mackey DA

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2015Miyake M, Yamashiro K, Tabara Y, Suda K, Morooka S, et al., 'Identification of myopia-associated WNT7B polymorphisms provides insights into the mechanism underlying the development of myopia', Nature Communications, 6 Article 6689. ISSN 2041-1723 (2015) [Refereed Article]

DOI: 10.1038/ncomms7689 [eCite] [Details]

Citations: Scopus - 61Web of Science - 57

Co-authors: Mackey DA

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2015Qing L, Wojciechowski R, Simpson CL, Hysi PG, Verhoeven VJM, et al., 'Genome-wide association study for refractive astigmatism reveals genetic co-determination with spherical equivalent refractive error: the CREAM consortium', Human Genetics, 134, (2) pp. 131-146. ISSN 0340-6717 (2015) [Refereed Article]

DOI: 10.1007/s00439-014-1500-y [eCite] [Details]

Citations: Scopus - 19Web of Science - 20

Co-authors: Mackey DA

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2015Sanfilippo PG, Casson RJ, Yazar S, Mackey DA, Hewitt AW, 'Review of null hypothesis significance testing in the ophthalmic literature: are most 'significant' P values false positives?', Clinical and Experimental Ophthalmology, 44, (1) pp. 52-61. ISSN 1442-6404 (2015) [Refereed Article]

DOI: 10.1111/ceo.12570 [eCite] [Details]

Citations: Scopus - 4Web of Science - 3

Co-authors: Mackey DA

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2015Sanfilippo PG, Kearns LS, Wright P, Mackey DA, Hewitt AW, 'Current landscape of direct-to-consumer genetic testing and its role in ophthalmology: A review', Clinical and Experimental Ophthalmology, 43, (6) pp. 578-590. ISSN 1442-6404 (2015) [Refereed Article]

DOI: 10.1111/ceo.12508 [eCite] [Details]

Citations: Scopus - 8Web of Science - 7

Co-authors: Mackey DA

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2015Sanfilippo PG, Wilkinson CH, Ruddle JB, Zhu G, Martin NG, et al., 'Don't it make your brown eyes blue? A comparison of iris colour across latitude in Australian twins', Clinical and Experimental Optometry, 98, (2) pp. 172-176. ISSN 0816-4622 (2015) [Refereed Article]

DOI: 10.1111/cxo.12209 [eCite] [Details]

Citations: Scopus - 2Web of Science - 2

Co-authors: Mackey DA

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2015Sanfilippo PG, Yazar S, Kearns L, Sherwin JC, Hewitt AW, et al., 'Distribution of astigmatism as a function of age in an Australian population', Acta Ophthalmologica, 93, (5) pp. e377-e385. ISSN 1755-375X (2015) [Refereed Article]

DOI: 10.1111/aos.12644 [eCite] [Details]

Citations: Scopus - 38Web of Science - 35

Co-authors: Mackey DA

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2015Souzeau E, Hayes M, Zhou T, Siggs OM, Ridge B, et al., 'Occurrence of CYP1B1 Mutations in Juvenile Open-Angle Glaucoma With Advanced Visual Field Loss', JAMA Ophthalmology, 133, (7) pp. 826-833. ISSN 2168-6165 (2015) [Refereed Article]

DOI: 10.1001/jamaophthalmol.2015.0980 [eCite] [Details]

Citations: Scopus - 14Web of Science - 15

Co-authors: Mackey DA; Burdon KP

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2015Springelkamp H, Iglesias AI, Cuellar-Partida G, Amin N, Burdon KP, et al., 'ARHGEF12 influences the risk of glaucoma by increasing intraocular pressure', Human Molecular Genetics, 24, (9) pp. 2689-2699. ISSN 1460-2083 (2015) [Refereed Article]

DOI: 10.1093/hmg/ddv027 [eCite] [Details]

Citations: Scopus - 63Web of Science - 61

Co-authors: Burdon KP; Mackey DA

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2015Springelkamp H, Mishra A, Hysi PG, Gharahkhani P, Hohn R, et al., 'Meta-analysis of genome-wide association studies identifies novel loci associated with optic disc morphology', Genetic Epidemiology, 39, (3) pp. 207-216. ISSN 0741-0395 (2015) [Refereed Article]

DOI: 10.1002/gepi.21886 [eCite] [Details]

Citations: Scopus - 59Web of Science - 60

Co-authors: Burdon KP; Mackey DA

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2015Staffieri SE, Rose L, Chang A, De Roach JN, Mclaren TL, et al., 'Clinical and molecular characterization of females affected by X-linked retinoschisis', Clinical and Experimental Ophthalmology, 43, (7) pp. 643-647. ISSN 1442-6404 (2015) [Refereed Article]

DOI: 10.1111/ceo.12541 [eCite] [Details]

Citations: Scopus - 6Web of Science - 7

Co-authors: Mackey DA

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2015Van Bergen NJ, Crowston JG, Craig JE, Burdon KP, Kearns LS, et al., 'Measurement of systemic mitochondrial function in advanced Primary Open-Angle Glaucoma and Leber Hereditary Optic Neuropathy', PLoS One, 10, (10) Article e0140919. ISSN 1932-6203 (2015) [Refereed Article]

DOI: 10.1371/journal.pone.0140919 [eCite] [Details]

Citations: Scopus - 58Web of Science - 58

Co-authors: Burdon KP

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2015Yazar S, Cuellar-Partida G, McKnight CM, Quach-Thanissorn P, Mountain JA, et al., 'Genetic and environmental factors in conjunctival UV autofluorescence', JAMA Ophthalmology, 133, (4) pp. 406-412. ISSN 2168-6165 (2015) [Refereed Article]

DOI: 10.1001/jamaophthalmol.2014.5627 [eCite] [Details]

Citations: Scopus - 20Web of Science - 20

Co-authors: Mackey DA

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2015Zhang Y, Sivakumaran P, Newcomb AE, Hernandez D, Harris N, et al., 'Cardiac Repair With a Novel Population of Mesenchymal Stem Cells Resident in the Human Heart', Stem Cell, 33, (10) pp. 3100-3113. ISSN 1945-4570 (2015) [Refereed Article]

DOI: 10.1002/stem.2101 [eCite] [Details]

Citations: Scopus - 38Web of Science - 36

Co-authors: Liu G-S

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2014Abell RG, Hewitt AW, Andric M, Allen PL, Verma N, 'The use of heterochromatic flicker photometry to determine macular pigment optical density in a healthy Australian population', Graefe's Archive for Clinical and Experimental Ophthalmology, 252, (3) pp. 417-421. ISSN 1435-702X (2014) [Refereed Article]

DOI: 10.1007/s00417-013-2554-6 [eCite] [Details]

Citations: Scopus - 11Web of Science - 9

Co-authors: Allen PL

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2014Awadalla MS, Burdon KP, Souzeau E, Landers J, Hewitt A, et al., 'Mutation in TMEM98 in a large white kindred with Autosomal Dominant Nanophthalmos linked to 17p12-q12', JAMA Ophthalmology, 132, (8) pp. 970-977. ISSN 2168-6173 (2014) [Refereed Article]

DOI: 10.1001/jamaophthalmol.2014.946 [eCite] [Details]

Citations: Scopus - 43Web of Science - 41

Co-authors: Burdon KP

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2014Baker ML, Painter G, Hewitt AW, Amirul Islam FM, Szetu J, et al., 'Profile of ocular trauma in the Solomon Islands', Clinical and Experimental Ophthalmology, 42, (5) pp. 440-446. ISSN 1442-6404 (2014) [Refereed Article]

DOI: 10.1111/ceo.12256 [eCite] [Details]

Citations: Scopus - 4Web of Science - 4

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2014Chroscinski D, Sampey D, Hewitt A, 'Registered report: Melanoma genome sequencing reveals frequent PREX2 mutations', E-life, 3 Article e04180. ISSN 2045-5267 (2014) [Refereed Article]

DOI: 10.7554/eLife.04180 [eCite] [Details]

Citations: Scopus - 4Web of Science - 2

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2014Cremin K, Leo P, Harris JE, De Smit E, Bradbury L, et al., 'Utility of temporal artery biopsy samples for genome-wide analysis of giant cell arteritis', Genes and Immunity, 15, (5) pp. 338-340. ISSN 1466-4879 (2014) [Refereed Article]

DOI: 10.1038/gene.2014.19 [eCite] [Details]

Citations: Scopus - 1Web of Science - 1

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2014De Smit E, Palmer AJ, Hewitt AW, 'Projected worldwide disease burden from giant cell arteritis by 2050', Journal of Rheumatology, 42, (1) pp. 119-125. ISSN 1499-2752 (2014) [Refereed Article]

DOI: 10.3899/jrheum.140318 [eCite] [Details]

Citations: Scopus - 60Web of Science - 61

Co-authors: Palmer AJ

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2014Dunstan E, Lester S, Rischmueller M, Chan H, Hewitt AW, et al., 'TLR4 polymorphism is not associated with biopsy proven giant cell arteritis', Clinical and Experimental Rheumatology, 32, (Suppl. 82) pp. S26-S29. ISSN 0392-856X (2014) [Refereed Article]

[eCite] [Details]

Citations: Web of Science - 4

2014Forward H, Yazar S, Hewitt AW, Khan J, Mountain JA, et al., 'Multiple prenatal ultrasound scans and ocular development: 20-year follow-up of a randomized controlled trial', Ultrasound in Obstetrics and Gynecology, 44, (2) pp. 166-170. ISSN 0960-7692 (2014) [Refereed Article]

DOI: 10.1002/uog.13399 [eCite] [Details]

Citations: Scopus - 11Web of Science - 9

Co-authors: Mackey DA

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2014Franchina M, Yazar S, Booth L, Wan SL, Cox K, et al., 'Swimming goggle wear is not associated with an increased prevalence of glaucoma', BJO Online, 99, (2) pp. 255-257. ISSN 1468-2079 (2014) [Refereed Article]

DOI: 10.1136/bjophthalmol-2014-305498 [eCite] [Details]

Citations: Scopus - 9Web of Science - 10

Co-authors: Mackey DA

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2014Franchina M, Yazar S, Hunter M, Gajdatsy A, deSousa JL, et al., 'Myopia and skin cancer are inversely correlated: results of the Busselton Healthy Ageing Study', Medical Journal of Australia, 200, (9) pp. 521-522. ISSN 0025-729X (2014) [Letter or Note in Journal]

[eCite] [Details]

Co-authors: Mackey DA

2014Gharahkhani P, Burdon KP, Fogarty R, Sharma S, Hewitt AW, et al., 'Common variants near ABCA1, AFAP1 and GMDS confer risk of primary open-angle glaucoma', Nature Genetics, 46, (10) pp. 1120-1125. ISSN 1546-1718 (2014) [Refereed Article]

DOI: 10.1038/ng.3079 [eCite] [Details]

Citations: Scopus - 137Web of Science - 129

Co-authors: Burdon KP; Mackey DA

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2014Gill KP, Hewitt AW, Davidson KC, Pebay A, Wong RCB, 'Methods of Retinal Ganglion Cell Differentiation From Pluripotent Stem Cells', Translational Vision Science & Technology, 3, (3) Article 7. ISSN 2164-2591 (2014) [Refereed Article]

DOI: 10.1167/tvst.3.3.7 [eCite] [Details]

Citations: Web of Science - 30

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2014Hewitt AW, Mackey DA, 'Research: Keep PubMed running at all costs', Nature: International Weekly Journal of Science, 502, (7471) pp. 303. ISSN 0028-0836 (2014) [Letter or Note in Journal]

DOI: 10.1038/502303e [eCite] [Details]

Co-authors: Mackey DA

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2014Hysi PG, Cheng CY, Springelkamp H, Macgregor S, Bailey JN, et al., 'Genome-wide analysis of multi-ancestry cohorts identifies new loci influencing intraocular pressure and susceptibility to glaucoma', Nature Genetics, 46 pp. 1126-1130. ISSN 1546-1718 (2014) [Refereed Article]

DOI: 10.1038/ng.3087 [eCite] [Details]

Citations: Scopus - 175Web of Science - 167

Co-authors: Burdon KP; Mackey DA

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2014Kaidonis G, Abhary S, Daniell M, Gillies M, Fogarty R, et al., 'Genetic study of diabetic retinopathy: Recruitment methodology and analysis of baseline characteristics', Clinical and Experimental Ophthalmology, 42, (5) pp. 486-493. ISSN 1442-6404 (2014) [Refereed Article]

DOI: 10.1111/ceo.12239 [eCite] [Details]

Citations: Scopus - 15Web of Science - 9

Co-authors: Burdon KP

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2014Landers J, Hewitt AW, Straga T, Burdon KP, Craig JE, 'Screening phenotypically normal Caucasian Australians for the lysyl oxidase-like 1 gene', Clinical and Experimental Ophthalmology, 43, (2) pp. 189-190. ISSN 1442-6404 (2014) [Letter or Note in Journal]

DOI: 10.1111/ceo.12388 [eCite] [Details]

Citations: Scopus - 1Web of Science - 1

Co-authors: Burdon KP

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2014Mackey DA, Hewitt AW, 'Genome-wide association study success in ophthalmology', Current Opinion in Ophthalmology, 25, (5) pp. 386-393. ISSN 1040-8738 (2014) [Refereed Article]

DOI: 10.1097/ICU.0000000000000090 [eCite] [Details]

Citations: Scopus - 18Web of Science - 20

Co-authors: Mackey DA

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2014McAuley AK, Sanfilippo PG, Hewitt AW, Liang H, Lamoureux E, et al., 'Vitreous biomarkers in diabetic retinopathy: a systematic review and meta-analysis', Journal of Diabetes and Its Complications, 28, (3) pp. 419-425. ISSN 1056-8727 (2014) [Refereed Article]

DOI: 10.1016/j.jdiacomp.2013.09.010 [eCite] [Details]

Citations: Scopus - 50Web of Science - 44

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2014McAuley AK, Wang JJ, Dirani M, Connell PP, Lamoureux E, et al., 'Replication of genetic loci implicated in diabetic retinopathy', Investigative Ophthalmology and Visual Science (Iovs), 55, (3) pp. 1666-1671. ISSN 0146-0404 (2014) [Refereed Article]

DOI: 10.1167/iovs.13-13559 [eCite] [Details]

Citations: Scopus - 23Web of Science - 18

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2014McCarthy NS, Melton PE, Cadby G, Yazar S, Franchina M, et al., 'Meta-analysis of human methylation data for evidence of sex-specific autosomal patterns', BMC Genomics, 15 Article 981. ISSN 1471-2164 (2014) [Refereed Article]

DOI: 10.1186/1471-2164-15-981 [eCite] [Details]

Citations: Scopus - 66Web of Science - 63

Co-authors: Melton PE; Mackey DA

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2014McKnight CM, Sherwin JC, Yazar S, Forward H, Tan AX, et al., 'Myopia in Young Adults Is Inversely Related to an Objective Marker of Ocular Sun Exposure: The Western Australian Raine Cohort Study', American Journal of Ophthalmology, 158, (5) pp. 1079-1085.e2. ISSN 0002-9394 (2014) [Refereed Article]

DOI: 10.1016/j.ajo.2014.07.033 [eCite] [Details]

Citations: Scopus - 61Web of Science - 56

Co-authors: Mackey DA

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2014Meier MH, Gillespie NA, Hansell NK, Hewitt AW, Hickie IB, et al., 'Associations between depression and anxiety symptoms and retinal vessel caliber in adolescents and young adults', Psychosomatic Medicine, 76, (9) pp. 732-738. ISSN 0033-3174 (2014) [Refereed Article]

DOI: 10.1097/PSY.0000000000000117 [eCite] [Details]

Citations: Scopus - 25Web of Science - 22

Co-authors: Mackey DA

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2014Sanfilippo PG, Chu B-S, Bigault O, Kearns LS, Boon M-Y, et al., 'What is the appropriate age cut-off for cycloplegia in refraction?', Acta Ophthalmologica, 92, (6) pp. e458-e462. ISSN 1755-375X (2014) [Refereed Article]

DOI: 10.1111/aos.12388 [eCite] [Details]

Citations: Scopus - 53Web of Science - 50

Co-authors: Mackey DA

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2014Sanfilippo PG, Hewitt AW, 'Translating the ENCyclopedia Of DNA Elements Project findings to the clinic: ENCODE's implications for eye disease', Clinical and Experimental Ophthalmology, 42, (1) pp. 78-83. ISSN 1442-6404 (2014) [Refereed Article]

DOI: 10.1111/ceo.12150 [eCite] [Details]

Citations: Scopus - 14Web of Science - 12

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2014Sherwin JC, De Smit E, Hewitt AW, 'Giant-Cell Arteritis and Polymyalgia Rheumatica', New England Journal of Medicine, 371, (17) pp. 1652-1653. ISSN 0028-4793 (2014) [Letter or Note in Journal]

DOI: 10.1056/NEJMc1409206 [eCite] [Details]

Citations: Scopus - 54Web of Science - 239

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2014Springelkamp H, Hohn R, Mishra A, Hysi PG, Khor C-C, et al., 'Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process', Nature Communications, 5 Article 4883. ISSN 2041-1723 (2014) [Refereed Article]

DOI: 10.1038/ncomms5883 [eCite] [Details]

Citations: Scopus - 78Web of Science - 74

Co-authors: Burdon KP; Mackey DA

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2014Yazar S, Gooden GEC, Mackey DA, Hewitt AW, 'Benchmarking undedicated cloud computing providers for analysis of genomic datasets', PLoS ONE, 9, (9) Article e108490. ISSN 1932-6203 (2014) [Refereed Article]

DOI: 10.1371/journal.pone.0108490 [eCite] [Details]

Citations: Scopus - 6Web of Science - 8

Co-authors: Mackey DA

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2014Yazar S, Hewitt AW, Black LJ, McKnight CM, Mountain JA, et al., 'Myopia is associated with lower vitamin D status in young adults', Investigative Ophthalmology and Visual Science (Iovs), 55, (7) pp. 4552-4559. ISSN 0146-0404 (2014) [Refereed Article]

DOI: 10.1167/iovs.14-14589 [eCite] [Details]

Citations: Scopus - 78Web of Science - 70

Co-authors: Oddy WH; Mackey DA

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2014Yazar S, Hewitt AW, Forward H, McKnight CM, Tan A, et al., 'Comparison of monochromatic aberrations in young adults with different visual acuity and refractive errors', Journal of Cataract and Refractive Surgery, 40, (3) pp. 441-449. ISSN 0886-3350 (2014) [Refereed Article]

DOI: 10.1016/j.jcrs.2013.07.055 [eCite] [Details]

Citations: Scopus - 14Web of Science - 11

Co-authors: Mackey DA

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2013Awadalla MS, Thapa SS, Hewitt AW, Burdon KP, Craig JE, 'Association of genetic variants with primary angle closure glaucoma in two different populations', PLoS One, 8, (6) Article e67903. ISSN 1932-6203 (2013) [Refereed Article]

DOI: 10.1371/journal.pone.0067903 [eCite] [Details]

Citations: Scopus - 37Web of Science - 32

Co-authors: Burdon KP

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2013Awadalla MS, Thapa SS, Hewitt AW, Craig JE, Burdon KP, 'Association of eNOS polymorphisms with primary angle-closure glaucoma', Investigative Ophthalmology and Visual Science (Iovs), 54, (3) pp. 2108-2114. ISSN 0146-0404 (2013) [Refereed Article]

DOI: 10.1167/iovs.12-11391 [eCite] [Details]

Citations: Scopus - 25Web of Science - 26

Co-authors: Burdon KP

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2013Cheng C-Y, Schache M, Ikram MK, Young TL, Guggenheim JA, et al., 'Nine loci for ocular axial length identified through genome-wide association studies, including shared loci with refractive error', American Journal of Human Genetics: A Record of Research, Review and Bibliographic Material Relating to Heredity in Man, 93, (2) pp. 264-277. ISSN 0002-9297 (2013) [Refereed Article]

DOI: 10.1016/j.ajhg.2013.06.016 [eCite] [Details]

Citations: Scopus - 117Web of Science - 110

Co-authors: Burdon KP; Mackey DA

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2013De Roach JN, Mclaren TL, Paterson RL, O'Brien EC, Hoffmann L, et al., 'Establishment and evolution of the Australian Inherited Retinal Disease Register and DNA Bank', Clinical and Experimental Ophthalmology, 41, (5) pp. 476-483. ISSN 1442-6404 (2013) [Refereed Article]

DOI: 10.1111/ceo.12020 [eCite] [Details]

Citations: Scopus - 34Web of Science - 32

Co-authors: Mackey DA

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2013Dunstan E, Lester S, Black R, Rischmueller M, Chan H, et al., 'No Association between FCγR3B Copy Number Variation and Susceptibility to Biopsy-Proven Giant Cell Arteritis', Arthritis, 2013 Article 514914. ISSN 2090-1992 (2013) [Refereed Article]

DOI: 10.1155/2013/514914 [eCite] [Details]

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2013Hewitt A, 'Corneal Genetics: Using Ancestry to Dissect Quantitative Traits for Complex Disease Discovery', Investigative Ophthalmology & Visual Science, 54, (4) pp. 2444. ISSN 1552-5783 (2013) [Letter or Note in Journal]

DOI: 10.1167/iovs.13-12029 [eCite] [Details]

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2013Hewitt AW, Yazar S, Franchina M, 'Explosion of ophthalmic collaborative research networks in Australia', Clinical and Experimental Ophthalmology, 41, (3) pp. 310-311. ISSN 1442-6404 (2013) [Letter or Note in Journal]

DOI: 10.1111/j.1442-9071.2012.02876.x [eCite] [Details]

Citations: Scopus - 1

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2013Holliday EG, Smith AV, Cornes BK, Buitendijk GHS, Jensen RA, et al., 'Insights into the genetic architecture of early stage age-related macular degeneration: a genome-wide association study meta-analysis', PLoS One, 8, (1) Article e53830. ISSN 1932-6203 (2013) [Refereed Article]

DOI: 10.1371/journal.pone.0053830 [eCite] [Details]

Citations: Scopus - 97Web of Science - 94

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2013Jensen RA, Sim X, Li X, Cotch MF, Ikram MK, et al., 'Genome-wide association study of retinopathy in individuals without diabetes', PLoS One, 8, (2) Article e54232. ISSN 1932-6203 (2013) [Refereed Article]

DOI: 10.1371/journal.pone.0054232 [eCite] [Details]

Citations: Scopus - 12Web of Science - 10

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2013Lopes MC, Hysi PG, Verhoeven VJM, Macgregor S, Hewitt AW, et al., 'Identification of a candidate gene for astigmatism', Investigative Ophthalmology and Visual Science (Iovs), 54, (2) pp. 1260-1267. ISSN 0146-0404 (2013) [Refereed Article]

DOI: 10.1167/iovs.12-10463 [eCite] [Details]

Citations: Scopus - 26Web of Science - 26

Co-authors: Mackey DA

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2013Lu Y, Vitart V, Burdon KP, Khor CC, Bykhovskaya Y, et al., 'Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus', Nature Genetics, 45, (2) pp. 155-163. ISSN 1061-4036 (2013) [Refereed Article]

DOI: 10.1038/ng.2506 [eCite] [Details]

Citations: Scopus - 210Web of Science - 221

Co-authors: Burdon KP; Mackey DA

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2013Nag A, Venturini C, Hysi PG, Arno M, Aldecoa-Otalora Astarloa E, et al., 'Copy number variation at chromosome 5q21.2 is associated with intraocular pressure', Investigative Ophthalmology and Visual Science (Iovs), 54, (5) pp. 3607-3612. ISSN 0146-0404 (2013) [Refereed Article]

DOI: 10.1167/iovs.13-11952 [eCite] [Details]

Citations: Scopus - 9Web of Science - 10

Co-authors: Mackey DA

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2013Oliver VF, Franchina M, Jaffe AE, Branham KE, Othman M, et al., 'Hypomethylation of the IL17RC Promoter in Peripheral Blood Leukocytes Is Not A Hallmark of Age-Related Macular Degeneration', Cell Reports, 5, (6) pp. 1527-1535. ISSN 2211-1247 (2013) [Refereed Article]

DOI: 10.1016/j.celrep.2013.11.042 [eCite] [Details]

Citations: Scopus - 40Web of Science - 38

Co-authors: Vote BJ; Mackey DA

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2013Poulter JA, Al-Araimi M, Conte I, Van Genderen MM, Sheridan E, et al., 'Recessive mutations in SLC38a8 cause foveal hypoplasia and optic nerve misrouting without albinism', American Journal of Human Genetics: A Record of Research, Review and Bibliographic Material Relating to Heredity in Man, 93, (6) pp. 1143-1150. ISSN 0002-9297 (2013) [Refereed Article]

DOI: 10.1016/j.ajhg.2013.11.002 [eCite] [Details]

Citations: Scopus - 61Web of Science - 57

Co-authors: Mackey DA

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2013Sanfilippo PG, Hewitt AW, Mountain JA, Mackey DA, 'A geometric morphometric assessment of hand shape and comparison to the 2D:4D digit ratio as a marker of sexual dimorphism', Twin Research and Human Genetics, 16, (2) pp. 590-600. ISSN 1832-4274 (2013) [Refereed Article]

DOI: 10.1017/thg.2013.5 [eCite] [Details]

Citations: Scopus - 5Web of Science - 5

Co-authors: Mackey DA

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2013Sim X, Jensen RA, Ikram MK, Cotch MF, Li X, et al., 'Genetic loci for retinal arteriolar microcirculation', PLoS One, 8, (6) Article e65804. ISSN 1932-6203 (2013) [Refereed Article]

DOI: 10.1371/journal.pone.0065804 [eCite] [Details]

Citations: Scopus - 19Web of Science - 18

Co-authors: Mackey DA

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2013Souzeau E, Burdon KP, Dubowsky A, Grist S, Usher B, et al., 'Higher prevalence of myocilin mutations in advanced glaucoma in comparison with less advanced disease in an australasian disease registry', Ophthalmology, 120, (6) pp. 1135-1143. ISSN 0161-6420 (2013) [Refereed Article]

DOI: 10.1016/j.ophtha.2012.11.029 [eCite] [Details]

Citations: Scopus - 37Web of Science - 37

Co-authors: Burdon KP; Mackey DA

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2013Verhoeven VJM, Hysi PG, Wojciechowski R, Fan Q, Guggenheim JA, et al., 'Genome-wide meta-analyses of multi-ethnic cohorts identify multiple new susceptibility loci for refractive error and myopia', Nature Genetics, 45, (3) pp. 314-318. ISSN 1061-4036 (2013) [Refereed Article]

DOI: 10.1038/ng.2554 [eCite] [Details]

Citations: Scopus - 333Web of Science - 316

Co-authors: Burdon KP; Mackey DA

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2013Yazar S, Forward H, Mcknight CM, Tan A, Soloshenko A, et al., 'Raine eye health study: Design, methodology and baseline prevalence of ophthalmic disease in a birth-cohort study of young adults', Ophthalmic Genetics, 34, (4) pp. 199-208. ISSN 1381-6810 (2013) [Refereed Article]

DOI: 10.3109/13816810.2012.755632 [eCite] [Details]

Citations: Scopus - 41Web of Science - 41

Co-authors: Mackey DA

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2013Yazar S, Mishra A, Ang W, Kearns LS, Mountain JA, et al., 'Interrogation of the platelet-derived growth factor receptor alpha locus and corneal astigmatism in Australians of Northern European ancestry: Results of a genome-wide association study', Molecular Vision, 19 pp. 1238-1246. ISSN 1090-0535 (2013) [Refereed Article]

PMID: 23761726 [eCite] [Details]

Citations: Scopus - 10Web of Science - 8

Co-authors: Mackey DA

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2012Awadalla MS, Burdon KP, Thapa SS, Hewitt AW, Craig JE, 'A cross-ethnicity investigation of genes previously implicated in primary angle closure glaucoma', Molecular Vision, 18 pp. 2247-2254. ISSN 1090-0535 (2012) [Refereed Article]

PMID: 22933837 [eCite] [Details]

Citations: Scopus - 13Web of Science - 11

Co-authors: Burdon KP

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2012Burdon KP, Crawford A, Casson RJ, Hewitt AW, Landers J, et al., 'Glaucoma risk alleles at CDKN2B-AS1 are associated with lower intraocular pressure, normal-tension glaucoma, and advanced glaucoma', Ophthalmology, 119, (8) pp. 1539-1545. ISSN 0161-6420 (2012) [Refereed Article]

DOI: 10.1016/j.ophtha.2012.02.004 [eCite] [Details]

Citations: Scopus - 66Web of Science - 64

Co-authors: Burdon KP; Mackey DA

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2012Dimasi DP, Burdon KP, Hewitt AW, Fitzgerald J, Wang JJ, et al., 'Genetic investigation into the endophenotypic status of central corneal thickness and optic disc parameters in relation to open-angle glaucoma', American Journal of Ophthalmology, 154, (5) pp. 833-842.e2. ISSN 1879-1891 (2012) [Refereed Article]

DOI: 10.1016/j.ajo.2012.04.023 [eCite] [Details]

Citations: Scopus - 24Web of Science - 24

Co-authors: Burdon KP; Mackey DA

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2012Forward H, Hewitt AW, Mackey DA, 'Missing X and Y: A review of participant ages in population-based eye studies', Clinical and Experimental Ophthalmology, 40, (3) pp. 305-319. ISSN 1442-6404 (2012) [Refereed Article]

DOI: 10.1111/j.1442-9071.2011.02626.x [eCite] [Details]

Citations: Scopus - 9Web of Science - 9

Co-authors: Mackey DA

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2012Franchina M, Toniolo J, Mackey DA, Hewitt AW, 'Google-based search of common blinding diseases: a reflection of public concerns', British Journal of Ophthalmology, 96, (11) pp. 1444-1445. ISSN 0007-1161 (2012) [Letter or Note in Journal]

DOI: 10.1136/bjophthalmol-2012-302318 [eCite] [Details]

Citations: Scopus - 1Web of Science - 1

Co-authors: Mackey DA

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2012Hewitt AW, Wang JJ, Liang H, Craig JE, 'Epigenetic effects on eye diseases', Expert Review of Ophthalmology, 7, (2) pp. 127-134. ISSN 1746-9899 (2012) [Refereed Article]

DOI: 10.1586/eop.12.11 [eCite] [Details]

Citations: Scopus - 3

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2012Javadiyan S, Burdon KP, Whiting MJ, Abhary S, Straga T, et al., 'Elevation of serum asymmetrical and symmetrical dimethylarginine in patients with advanced glaucoma', Investigative Ophthalmology & Visual Science, 53, (4) pp. 1923-1927. ISSN 1552-5783 (2012) [Refereed Article]

DOI: 10.1167/iovs.11-8420 [eCite] [Details]

Citations: Scopus - 36Web of Science - 34

Co-authors: Burdon KP

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2012Kuot A, Hewitt AW, Griggs K, Klebe S, Mills R, et al., 'Association of TCF4 and CLU polymorphisms with Fuchs endothelial dystrophy and implication of CLU and TGFBI proteins in the disease process', European Journal of Human Genetics, 20, (6) pp. 632-638. ISSN 1018-4813 (2012) [Refereed Article]

DOI: 10.1038/ejhg.2011.248 [eCite] [Details]

Citations: Scopus - 54Web of Science - 50

Co-authors: Burdon KP

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2012Mackey DA, Warrington NM, Hewitt A, Oates SK, Yazar S, et al., 'Role of the TCF4 gene intronic variant in normal variation of corneal endothelium', Cornea, 31, (2) pp. 162-166. ISSN 0277-3740 (2012) [Refereed Article]

DOI: 10.1097/ICO.0b013e318226155f [eCite] [Details]

Citations: Scopus - 8Web of Science - 8

Co-authors: Mackey DA

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2012McAuley AK, Sanfilippo PG, Connell PP, Wang JJ, Dirani M, et al., 'Circulating biomarkers of diabetic retinopathy: a systematic review and meta-analysis', Diabetes Management, 2, (2) pp. 157-169. ISSN 1758-1907 (2012) [Refereed Article]

DOI: 10.2217/dmt.12.4 [eCite] [Details]

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2012Mishra A, Yazar S, Hewitt AW, Mountain JA, Ang W, et al., 'Genetic variants near PDGFRA are associated with corneal curvature in Australians', Investigative Ophthalmology and Visual Science (Iovs), 53, (11) pp. 7131-7136. ISSN 0146-0404 (2012) [Refereed Article]

DOI: 10.1167/iovs.12-10489 [eCite] [Details]

Citations: Scopus - 31Web of Science - 29

Co-authors: Mackey DA

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2012Paterson RL, De Roach JN, McLaren TL, Hewitt AW, Hoffmann L, et al., 'Application of a high-throughput genotyping method for loci exclusion in non-consanguineous Australian pedigrees with autosomal recessive retinitis pigmentosa', Molecular Vision, 18 pp. 2043-2052. ISSN 1090-0535 (2012) [Refereed Article]

PMID: 22876132 [eCite] [Details]

Citations: Scopus - 2Web of Science - 1

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2012Sanfilippo PG, Hammond CJ, Staffieri SE, Kearns LS, Melissa Liew SH, et al., 'Heritability of strabismus: Genetic influence is specific to eso-deviation and independent of refractive error', Twin Research and Human Genetics, 15, (5) pp. 624-630. ISSN 1832-4274 (2012) [Refereed Article]

DOI: 10.1017/thg.2012.22 [eCite] [Details]

Citations: Scopus - 17Web of Science - 19

Co-authors: Mackey DA

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2012Sharma S, Burdon KP, Chidlow G, Klebe S, Crawford A, et al., 'Association of genetic variants in the TMCO1 gene with clinical parameters related to glaucoma and characterization of the protein in the eye', Investigative Ophthalmology & Visual Science, 53, (8) pp. 4917-4925. ISSN 0146-0404 (2012) [Refereed Article]

DOI: 10.1167/iovs.11-9047 [eCite] [Details]

Citations: Scopus - 31Web of Science - 31

Co-authors: Burdon KP; Mackey DA

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2012Sherwin JC, Hewitt AE, McKnight CM, Griffiths LR, Coroneo MT, et al., 'Approach to evaluation the reliability and validity of conjunctival ultraviolet autofluorescence measurement', British Journal of Ophthalmology, 96, (9) pp. 1271. ISSN 0007-1161 (2012) [Letter or Note in Journal]

[eCite] [Details]

Co-authors: Mackey DA

2012Sherwin JC, Hewitt AW, Coroneo MT, Kearns LS, Griffiths LR, et al., 'The association between time spent outdoors and myopia using a novel biomarker of outdoor light exposure', Investigative Ophthalmology and Visual Science, 53, (8) pp. 4363-4370. ISSN 0146-0404 (2012) [Refereed Article]

DOI: 10.1167/iovs.11-8677 [eCite] [Details]

Citations: Scopus - 66Web of Science - 66

Co-authors: Mackey DA

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2012Sherwin JC, McKnight CM, Hewitt AW, Griffiths LR, Coroneo MT, et al., 'Reliability and validity of conjunctival ultraviolet autofluorescence measurement', British Journal of Ophthalmology, 96, (6) pp. 801-805. ISSN 0007-1161 (2012) [Refereed Article]

DOI: 10.1136/bjophthalmol-2011-301255 [eCite] [Details]

Citations: Scopus - 40Web of Science - 39

Co-authors: Mackey DA

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2012Souzeau E, Goldberg I, Healey PR, Mills RAD, Landers J, et al., 'Australian and New Zealand Registry of Advanced Glaucoma: Methodology and recruitment', Clinical and Experimental Ophthalmology, 40, (6) pp. 569-575. ISSN 1442-6404 (2012) [Refereed Article]

DOI: 10.1111/j.1442-9071.2011.02742.x [eCite] [Details]

Citations: Scopus - 57Web of Science - 49

Co-authors: Mackey DA; Burdon KP

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2012Van Koolwijk LME, Ramdas WD, Ikram MK, Jansonius NM, Pasutto F, et al., 'Common genetic determinants of intraocular pressure and primary open-angle Glaucoma', PL o S Genetics (Print), 8, (5) Article e1002611. ISSN 1553-7390 (2012) [Refereed Article]

DOI: 10.1371/journal.pgen.1002611 [eCite] [Details]

Citations: Scopus - 135Web of Science - 136

Co-authors: Mackey DA

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2012Verhoeven VJM, Hysi PG, Saw S, Vitart V, Mirshahi A, et al., 'Large scale international replication and meta-analysis study confirms association of the 15q14 locus with myopia. The CREAM consortium', Human Genetics, 131, (9) pp. 1467-1480. ISSN 1432-1203 (2012) [Refereed Article]

DOI: 10.1007/s00439-012-1176-0 [eCite] [Details]

Citations: Scopus - 59Web of Science - 56

Co-authors: Mackey DA

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2012Wiggs JL, Hewitt AW, Fan BJ, Wang DY, Figueiredo Sena DR, et al., 'The p53 codon 72 PRO/PRO genotype may be associated with initial central visual field defects in caucasians with primary open angle glaucoma', PLoS One, 7, (9) Article e45613. ISSN 1932-6203 (2012) [Refereed Article]

DOI: 10.1371/journal.pone.0045613 [eCite] [Details]

Citations: Scopus - 20Web of Science - 44

Co-authors: Mackey DA

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2012Young TK, Ruddle JB, Crock C, Hewitt AW, 'Influence of weather conditions on ophthalmic emergency presentations', Clinical and Experimental Ophthalmology, 40, (3) pp. 322-323. ISSN 1442-6404 (2012) [Letter or Note in Journal]

DOI: 10.1111/j.1442-9071.2011.02587.x [eCite] [Details]

Citations: Scopus - 5Web of Science - 5

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2011Awadalla MS, Burdon KP, Kuot A, Hewitt AW, Craig JE, 'Matrix metalloproteinase-9 genetic variation and primary angle closure glaucoma in a Caucasian population', Molecular Vision, 17 pp. 1420-1424. ISSN 1090-0535 (2011) [Refereed Article]

PMID: 21655354 [eCite] [Details]

Citations: Scopus - 44Web of Science - 36

Co-authors: Burdon KP

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2011Awadalla MS, Thapa SS, Burdon KP, Hewitt AW, Craig JE, 'The association of hepatocyte growth factor (HGF) gene with primary angle closure glaucoma in the Nepalese population', Molecular Vision, 17 pp. 2248-2254. ISSN 1090-0535 (2011) [Refereed Article]

PMID: 21897747 [eCite] [Details]

Citations: Scopus - 27Web of Science - 25

Co-authors: Burdon KP

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2011Burdon KP, Macgregor S, Bykhovskaya Y, Javadiyan S, Li X, et al., 'Association of polymorphisms in the hepatocyte growth factor gene promoter with keratoconus', Investigative Ophthalmology and Visual Science, 52, (11) pp. 8514-8519. ISSN 0146-0404 (2011) [Refereed Article]

DOI: 10.1167/iovs.11-8261 [eCite] [Details]

Citations: Scopus - 94Web of Science - 88

Co-authors: Burdon KP

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2011Burdon KP, Macgregor S, Hewitt AW, Sharma S, Chidlow G, et al., 'Genome-wide association study identifies susceptibility loci for open angle glaucoma at TMCO1 and CDKN2B-AS1', Nature Genetics, 43, (6) pp. 574-578. ISSN 1061-4036 (2011) [Refereed Article]

DOI: 10.1038/ng.824 [eCite] [Details]

Citations: Scopus - 324Web of Science - 317

Co-authors: Burdon KP; Mackey DA

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2011Dimasi DP, Hewitt AW, Kagame K, Ruvama S, Tindyebwa L, et al., 'Ethnic and mouse strain differences in central corneal thickness and association with pigmentation phenotype', PLoS One, 6, (8) Article e22103. ISSN 1932-6203 (2011) [Refereed Article]

DOI: 10.1371/journal.pone.0022103 [eCite] [Details]

Citations: Scopus - 16Web of Science - 12

Co-authors: Burdon KP

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2011Mackey DA, Hewitt AW, Ruddle JB, Vote B, Buttery RG, et al., 'Pediatric cataract, myopic astigmatism, familial exudative vitreoretinopathy and primary open-angle glaucoma co-segregating in a family', Molecular Vision, 17 pp. 2118-2128. ISSN 1090-0535 (2011) [Refereed Article]

PMID: 21850187 [eCite] [Details]

Citations: Scopus - 7Web of Science - 4

Co-authors: Mackey DA

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2011Mackey DA, Sherwin JC, Kearns LS, Ma Y, Kelly J, et al., 'The Norfolk Island Eye Study (NIES): rationale, methodology and distribution of ocular biometry (Biometry of the Bounty)', Twin Research and Human Genetics, 14, (1) pp. 42-52. ISSN 1832-4274 (2011) [Refereed Article]

DOI: 10.1375/twin.14.1.42 [eCite] [Details]

Citations: Scopus - 10Web of Science - 10

Co-authors: Mackey DA

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2011Mackey DA, Wilkinson CH, Kearns LS, Hewitt AW, 'Classification of iris colour: review and refinement of a classification schema', Clinical and Experimental Ophthalmology, 39, (5) pp. 462-471. ISSN 1442-6404 (2011) [Refereed Article]

DOI: 10.1111/j.1442-9071.2010.02487.x [eCite] [Details]

Citations: Scopus - 29Web of Science - 26

Co-authors: Mackey DA

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2011Pratap DS, Lim LL, Wang JJ, Mackey DA, Kearns LS, et al., 'The role of toll-like receptor variants in acute anterior uveitis', Molecular Vision, 17 pp. 2970-2977. ISSN 1090-0535 (2011) [Refereed Article]

PMID: 22128242 [eCite] [Details]

Citations: Scopus - 8Web of Science - 9

Co-authors: Mackey DA; Burdon KP

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2011Sanfilippo PG, Medland SE, Hewitt AW, Kearns LS, Ruddle JB, et al., 'Ophthalmic Phenotypes and Representativeness of Twin Data for the General Population', Investigative Ophthalmology and Visual Science (Iovs), 52, (8) pp. 5565-5572. ISSN 0146-0404 (2011) [Refereed Article]

DOI: 10.1167/iovs.11-7258 [eCite] [Details]

Citations: Scopus - 13Web of Science - 14

Co-authors: Mackey DA

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2011Sherwin JC, Hewitt AW, Kearns LS, Coroneo MT, Griffiths LR, et al., 'Distribution of conjunctival ultraviolet autofluorescence in a population-based study: the Norfolk Island Eye Study', Eye, 25, (7) pp. 893-900. ISSN 0950-222X (2011) [Refereed Article]

DOI: 10.1038/eye.2011.83 [eCite] [Details]

Citations: Scopus - 19Web of Science - 21

Co-authors: Mackey DA

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2011Sherwin JC, Hewitt AW, Kearns LS, Griffiths LR, Mackey DA, et al., 'The association between pterygium and conjunctival ultraviolet autofluorescence: The Norfolk Island Eye Study', Acta Ophthalmologica, 91, (4) pp. 363-370. ISSN 1755-3768 (2011) [Refereed Article]

DOI: 10.1111/j.1755-3768.2011.02314.x [eCite] [Details]

Citations: Scopus - 54Web of Science - 51

Co-authors: Mackey DA

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2011Sherwin JC, Kearns LS, Hewitt AW, Ma Y, Kelly J, et al., 'Prevalence of chronic ocular diseases in a genetic isolate: The Norfolk Island Eye Study (NIES)', Ophthalmic Epidemiology, 18, (2) pp. 61-71. ISSN 0928-6586 (2011) [Refereed Article]

DOI: 10.3109/09286586.2010.545933 [eCite] [Details]

Citations: Scopus - 11Web of Science - 9

Co-authors: Mackey DA

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2011Sherwin JC, Kelly J, Hewitt AW, Kearns LS, Griffiths LR, et al., 'Prevalence and predictors of refractive error in a genetically isolated population: the Norfolk Island Eye Study', Clinical and Experimental Ophthalmology, 39, (8) pp. 734-742. ISSN 1442-6404 (2011) [Refereed Article]

DOI: 10.1111/j.1442-9071.2011.02579.x [eCite] [Details]

Citations: Scopus - 13Web of Science - 12

Co-authors: Mackey DA

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2011Thapa SS, Rana PP, Twayana SN, Shrestha MK, Paudel I, et al., 'Rationale, methods and baseline demographics of the Bhaktapur Glaucoma Study', Clinical and Experimental Ophthalmology, 39, (2) pp. 126-134. ISSN 1442-6404 (2011) [Refereed Article]

DOI: 10.1111/j.1442-9071.2010.02429.x [eCite] [Details]

Citations: Scopus - 14Web of Science - 15

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2011Van Bergen NJ, Crowston JG, Kearns LS, Staffieri SE, Hewitt A, et al., 'Mitochondrial oxidative phosphorylation compensation may preserve vision in patients with OPA1-linked autosomal dominant optic atrophy', PL o S One, 6, (6) Article e21347. ISSN 1932-6203 (2011) [Refereed Article]

DOI: 10.1371/journal.pone.0021347 [eCite] [Details]

Citations: Scopus - 42Web of Science - 42

Co-authors: Mackey DA

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2010Burdon KP, Hewitt AW, Mackey DA, Mitchell P, Craig JE, 'Tag SNPs detect association of the CYP1B1 gene with primary open angle glaucoma', Molecular Vision, 16 pp. 2286-2293. ISSN 1090-0535 (2010) [Refereed Article]

PMID: 21139974 [eCite] [Details]

Citations: Scopus - 11Web of Science - 11

Co-authors: Burdon KP; Mackey DA

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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 - 77Web of Science - 75

Co-authors: Charlesworth J; Mackey DA

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2010Cohn AC, Turnbull C, Ruddle JB, Guymer RH, Kearns LS, et al., 'Best's macular dystrophy in Australia: phenotypic profile and identification of novel BEST1 mutations', Eye, 25, (2) pp. 208-217. ISSN 0950-222X (2010) [Refereed Article]

DOI: 10.1038/eye.2010.180 [eCite] [Details]

Citations: Scopus - 14Web of Science - 12

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2010Dimasi DP, Burdon KP, Hewitt AW, Savarirayan R, Healey PR, et al., 'Candidate gene study to investigate the genetic determinants of normal variation in central corneal thickness', Molecular Vision, 16, (63-65) pp. 562-569. ISSN 1090-0535 (2010) [Refereed Article]

PMID: 20360993 [eCite] [Details]

Citations: Scopus - 12Web of Science - 13

Co-authors: Burdon KP; Mackey DA

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2010Dimasi DP, Chen JY, Hewitt AW, Klebe S, Davey R, et al., 'Novel quantitative trait loci for central corneal thickness identified by candidate gene analysis of osteogenesis imperfecta genes', Human Genetics, 127, (1) pp. 33-44. ISSN 0340-6717 (2010) [Refereed Article]

DOI: 10.1007/s00439-009-0729-3 [eCite] [Details]

Citations: Scopus - 26Web of Science - 26

Co-authors: Mackey DA; Burdon KP

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2010Hewitt AW, Sanfilippo P, Ring M, Mackey DA, Craig JE, 'Mortality in primary open-angle glaucoma: two cupped discs and a funeral'', Eye, 24, (1) pp. 59-63. ISSN 0950-222X (2010) [Refereed Article]

DOI: 10.1038/eye.2009.37 [eCite] [Details]

Citations: Scopus - 5Web of Science - 5

Co-authors: Ring M; Mackey DA

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2010Hewitt AW, Wu J, Green CM, Lai T, Kearns LS, et al., 'Systemic disease associations of familial and sporadic glaucoma: the Glaucoma Inheritance Study in Tasmania', Acta Ophthalmologica, 88, (1) pp. 70-74. ISSN 1755-375X (2010) [Refereed Article]

DOI: 10.1111/j.1755-3768.2009.01786.x [eCite] [Details]

Citations: Scopus - 11Web of Science - 9

Co-authors: Mackey DA

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2010Hysi PG, Young TL, Mackey DA, Andrew T, Fernandez-Medarde A, et al., 'A genome-wide association study for myopia and refractive error identifies a susceptibility locus at 15q25', Nature Genetics, 42, (10) pp. 902-905. ISSN 1061-4036 (2010) [Refereed Article]

DOI: 10.1038/ng.664 [eCite] [Details]

Citations: Scopus - 178Web of Science - 163

Co-authors: Mackey DA

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2010Ikram MK, Xueling S, Jensen RA, Cotch MF, Hewitt AW, et al., 'Four novel loci (19q13, 6q24, 12q24, and 5q14) influence the microcirculation in vivo', PL o S Genetics, 6, (10) pp. 1-12. ISSN 1553-7390 (2010) [Refereed Article]

DOI: 10.1371/journal.pgen.1001184 [eCite] [Details]

Citations: Scopus - 112Web of Science - 101

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2010Kistos G, Petrou Z, Grigoriadou M, Samples JR, Hewitt AW, et al., 'Primary open angle glaucoma due to T377M MYOC: Population mapping of a Greek founder mutation in Northwestern Greece', Clinical Ophthalmology, 4, (1) pp. 171-178. ISSN 1177-5467 (2010) [Refereed Article]

DOI: 10.2147/opth.s8974 [eCite] [Details]

Citations: Scopus - 7

Co-authors: Mackey DA

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2010Lu Y, Dimasi DP, Hysi PG, Hewitt AW, Burdon KP, et al., 'Common genetic variants near the brittle cornea syndrome locus ZNF469 influence the blinding disease risk factor central corneal thickness', PL o S Genetics (Print), 6, (5) Article e1000947. ISSN 1553-7390 (2010) [Refereed Article]

DOI: 10.1371/journal.pgen.1000947 [eCite] [Details]

Citations: Scopus - 108Web of Science - 111

Co-authors: Burdon KP; Mackey DA

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2010Macgregor S, Hewitt AW, Hysi PG, Ruddle JB, Medland SE, et al., 'Genome-wide association identifies ATOH7 as a major gene determining human optic disc size', Human Molecular Genetics, 19, (13) pp. 2716-2724. ISSN 0964-6906 (2010) [Refereed Article]

DOI: 10.1093/hmg/ddq144 [eCite] [Details]

Citations: Scopus - 117Web of Science - 117

Co-authors: Mackey DA

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2010O'Neill EC, Danesh-Meyer HV, Kong GXY, Hewitt A, Coote MA, et al., 'Optic Disc Evaluation in Optic Neuropathies : The Optic Disc Assessment Project', Ophthalmology, 118, (5) pp. 964-970. ISSN 0161-6420 (2010) [Refereed Article]

DOI: 10.1016/j.ophtha.2010.09.002 [eCite] [Details]

Citations: Scopus - 25Web of Science - 24

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2010Sanfilippo PG, Cardini A, Sigal IA, Ruddle JB, Chua BE, et al., 'A geometric morphometric assessment of the optic cup in glaucoma', Experimental Eye Research, 91, (3) pp. 405-414. ISSN 0014-4835 (2010) [Refereed Article]

DOI: 10.1016/j.exer.2010.06.014 [eCite] [Details]

Citations: Scopus - 13Web of Science - 13

Co-authors: Mackey DA

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2010Sanfilippo PG, Hewitt AW, Hammond CJ, Mackey DA, 'The heritability of ocular traits', Survey of Ophthalmology, 55, (6) pp. 561-583. ISSN 0039-6257 (2010) [Refereed Article]

DOI: 10.1016/j.survophthal.2010.07.003 [eCite] [Details]

Citations: Scopus - 112Web of Science - 108

Co-authors: Mackey DA

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2010Sun C, Ponsonby AL, Brown Shayne, Kearns LS, MacKinnon JR, et al., 'Associations of birth weight with ocular biometry, refraction, and glaucomatous endophenotypes: The australian twins eye study', American Journal of Ophthalmology, 150, (6) pp. 909-916. ISSN 0002-9394 (2010) [Refereed Article]

DOI: 10.1016/j.ajo.2010.06.028 [eCite] [Details]

Citations: Scopus - 24Web of Science - 24

Co-authors: Ponsonby AL; Brown Shayne; Dwyer T; Mackey DA

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2010Tang L, Scheetz TE, Mackey DA, Hewitt A, Fingert JH, et al., 'Automated quantification of inherited phenotypes from color images: A twin study of the variability of optic nerve head shape', Investigative Ophthalmology and Visual Science (Iovs), 51, (11) pp. 5870-5877. ISSN 0146-0404 (2010) [Refereed Article]

DOI: 10.1167/iovs.10-5527 [eCite] [Details]

Citations: Scopus - 7Web of Science - 7

Co-authors: Mackey DA

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2010Thorleifsson G, Walters GB, Hewitt AW, Masson G, Helgason A, et al., 'Common variants near CAV1 and CAV2 are associated with primary open-angle glaucoma', Nature Genetics, 42, (10) pp. 906-910. ISSN 1061-4036 (2010) [Refereed Article]

DOI: 10.1038/ng.661 [eCite] [Details]

Citations: Scopus - 312Web of Science - 295

Co-authors: Burdon KP; Mackey DA

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2010Xu J, Ishikawa H, Wollstein G, Bilonick RA, Kagemann L, et al., 'Automated volumetric evaluation of stereoscopic disc photography', Optics Express, 18, (11) pp. 11347-11359. ISSN 1094-4087 (2010) [Refereed Article]

DOI: 10.1364/OE.18.011347 [eCite] [Details]

Citations: Scopus - 10Web of Science - 7

Co-authors: Mackey DA

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2009Abhary S, Hewitt AW, Burdon KP, Craig JE, 'A systematic meta-analysis of genetic association studies for diabetic retinopathy', Diabetes, 58, (9) pp. 2137-2147. ISSN 0012-1797 (2009) [Refereed Article]

DOI: 10.2337/db09-0059 [eCite] [Details]

Citations: Scopus - 160Web of Science - 146

Co-authors: Burdon KP

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2009Craig JE, Hewitt AW, McMellon AE, Henders AK, Ma L, et al., 'Rapid inexpensive genome-wide association using pooled whole blood', Genome Research, 19, (11) pp. 2075-2080. ISSN 1088-9051 (2009) [Refereed Article]

DOI: 10.1101/gr.094680.109 [eCite] [Details]

Citations: Scopus - 40Web of Science - 35

Co-authors: Burdon KP

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2009Hewitt AW, Chappell AJ, Staga T, Landers J, Mills RA, et al., 'Sensitivity of confocal laser tomography versus optical coherence tomography in detecting advanced glaucoma', Clinical and Experimental Ophthalmology, 37, (9) pp. 836-841. ISSN 1442-6404 (2009) [Refereed Article]

DOI: 10.1111/j.1442-9071 [eCite] [Details]

Citations: Scopus - 5Web of Science - 5

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2009Kakaday T, Hewitt AW, Voelcker NH, Craig JE, Li JSJ, 'Advances in telemetric continuous intraocular pressure assessment', British Journal of Ophthalmology, 93, (8) pp. 992-996. ISSN 0007-1161 (2009) [Refereed Article]

DOI: 10.1136/bjo.2008.144261 [eCite] [Details]

Citations: Scopus - 36Web of Science - 31

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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 - 39Web of Science - 43

Co-authors: Charlesworth JC; Mackey DA; Burdon KP

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2009Mackey DA, Mackinnon JR, Brown SA, Kearns LS, Ruddle JB, et al., 'Twins Eye Study in Tasmania (TEST): Rationale and methodology to recruit and examine twins', Twin Research and Human Genetics, 12, (5) pp. 441-454. ISSN 1832-4274 (2009) [Refereed Article]

DOI: 10.1375/twin.12.5.441 [eCite] [Details]

Citations: Scopus - 34Web of Science - 33

Co-authors: Mackey DA

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2009Medland SE, Duffy DL, Wright MJ, Geffen GM, Hay DA, et al., 'Genetic influences on handedness: Data from 25,732 Australian and Dutch twin families', Neuropsychologia: An International Journal in Behavioural Neuroscience, 47, (2) pp. 330-337. ISSN 0028-3932 (2009) [Refereed Article]

DOI: 10.1016/j.neuropsychologia.2008.09.005 [eCite] [Details]

Citations: Scopus - 201Web of Science - 191

Co-authors: Mackey DA

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2009O'Neill E, Mackey DA, Connell PP, Hewitt A, Danesh-Meyer HV, et al., 'The optic nerve head in hereditary optic neuropathies', Nature Reviews Neurology, 5, (5) pp. 277-278. ISSN 1759-4758 (2009) [Refereed Article]

DOI: 10.1038/nrneurol.2009.40 [eCite] [Details]

Citations: Scopus - 16Web of Science - 17

Co-authors: Mackey DA

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2009Sanfilippo PG, Cardini A, Hewitt A, Crowston JG, Mackey DA, 'Optic disc morphology - Rethinking shape', Progress in Retinal and Eye Research, 28, (4) pp. 227-248. ISSN 1350-9462 (2009) [Refereed Article]

DOI: 10.1016/j.preteyeres.2009.05.004 [eCite] [Details]

Citations: Scopus - 44Web of Science - 38

Co-authors: Mackey DA

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2009Sharma S, Chataway T, Burdon KP, Jonavicius L, Klebe S, et al., 'Identification of LOXL1 protein and Apolipoprotein E as components of surgically isolated pseudoexfoliation material by direct mass spectrometry', Experimental Eye Research: An International Journal Devoted to Scientific Research on The Eye, 89, (4) pp. 479-485. ISSN 0014-4835 (2009) [Refereed Article]

DOI: 10.1016/j.exer.2009.05.001 [eCite] [Details]

Citations: Scopus - 67Web of Science - 53

Co-authors: Burdon KP

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2009Sherwin JC, Hewitt A, Bennett SL, Baird PN, Craig JE, et al., 'Primary open angle glaucoma in subjects harbouring the predicted GLC1L haplotype reveals a normotensive phenotype', Clinical and Experimental Ophthalmology, 37, (2) pp. 201-207. ISSN 1442-6404 (2009) [Refereed Article]

DOI: 10.1111/j.1442-9071.2009.02002.x [eCite] [Details]

Citations: Scopus - 5Web of Science - 3

Co-authors: Mackey DA

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2009Sun C, Ponsonby AL, Wong TY, Brown Shayne, Kearns LS, et al., 'Effect of birth parameters on retinal vascular caliber: the twins eye study in Tasmania', Hypertension, 53, (3) pp. 487-493. ISSN 0194-911X (2009) [Refereed Article]

DOI: 10.1161/HYPERTENSIONAHA.108.125914 [eCite] [Details]

Citations: Scopus - 34Web of Science - 36

Co-authors: Ponsonby AL; Brown Shayne; Cochrane JA; Mackey DA

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2009Sun C, Zhu G, Wong TY, Hewitt A, Ruddle JB, et al., 'Quantitative genetic analysis of the retinal vascular caliber: The australian twins eye study', Hypertension, 54, (4) pp. 788-795. ISSN 0194-911X (2009) [Refereed Article]

DOI: 10.1161/HYPERTENSIONAHA.109.132902 [eCite] [Details]

Citations: Scopus - 28Web of Science - 26

Co-authors: Mackey DA

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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 - 60Web of Science - 52

Co-authors: Burdon KP; Charlesworth JC

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2008Burdon KP, Sharma S, Hewitt AW, McMellon AE, Wang JJ, et al., 'Genetic analysis of the clusterin gene in pseudoexfoliation syndrome', Molecular Vision, 14, (205-06) pp. 1727-1736. ISSN 1090-0535 (2008) [Refereed Article]

PMID: 18806885 [eCite] [Details]

Citations: Scopus - 32Web of Science - 28

Co-authors: Burdon KP; Mackey DA

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2008Cohn AC, Toomes C, Hewitt AW, Kearns LS, Inglehearn CF, et al., 'The natural history of OPA1-related autosomal dominant optic atrophy', British Journal of Ophthalmology, 92, (10) pp. 1333-1336. ISSN 0007-1161 (2008) [Refereed Article]

DOI: 10.1136/bjo.2007.134726 [eCite] [Details]

Citations: Scopus - 54Web of Science - 50

Co-authors: Mackey DA

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2008He M, Ge J, Wang D, Zhang J, Hewitt AW, et al., 'Heritability of the iridotrabecular angle width measured by optical coherence tomography in Chinese children: the Guangzhou twin eye study', Investigative Ophthalmology & Visual Science, 49, (4) pp. 1356-1361. ISSN 0146-0404 (2008) [Refereed Article]

DOI: 10.1167/iovs.07-1397 [eCite] [Details]

Citations: Scopus - 20Web of Science - 17

Co-authors: Mackey DA

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2008Hewitt AW, Mackey DA, Craig JE, 'Myocilin allele-specific glaucoma phenotype database', Human Mutation, 29, (2) pp. 207-211. ISSN 1059-7794 (2008) [Refereed Article]

DOI: 10.1002/humu.20634 [eCite] [Details]

Citations: Scopus - 87Web of Science - 82

Co-authors: Mackey DA

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2008Hewitt AW, Sharma S, Burdon KP, Wang JJ, Baird PN, et al., 'Ancestral LOXL1 variants are associated with pseudoexfoliation in Caucasian Australians but with markedly lower penetrance than in Nordic people', Human Molecular Genetics, 17, (5) pp. 710-716. ISSN 0964-6906 (2008) [Refereed Article]

DOI: 10.1093/hmg/ddm342 [eCite] [Details]

Citations: Scopus - 136Web of Science - 120

Co-authors: Burdon KP; Mackey DA

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2008Mackey DA, Green CM, Craig JE, Hewitt A, 'The pathogenesis of the glaucoma: nature versus nurture', Clinical and Experimental Ophthalmology pp. 297. ISSN 1442-6404 (2008) [Letter or Note in Journal]

[eCite] [Details]

Co-authors: Mackey DA; Craig JE

2008Ormsby RJ, Ranganathan S, Tong JC, Griggs KM, Dimasi DP, et al., 'Functional and structural implications of the complement factor H Y402H polymorphism associated with Age-Related macular degeneration', Investigative Ophthalmology and Visual Science (Iovs), 49, (5) pp. 1763-1770. ISSN 0146-0404 (2008) [Refereed Article]

DOI: 10.1167/iovs.07-1297 [eCite] [Details]

Citations: Scopus - 74Web of Science - 70

Co-authors: Burdon KP

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2008Sherwin JA, Hewitt A, Ruddle JB, Mackey DA, 'Genetic isolates in ophthalmic diseases', Ophthalmic Genetics, 29, (4) pp. 149-161. ISSN 1381-6810 (2008) [Contribution to Refereed Journal]

DOI: 10.1080/13816810802334341 [eCite] [Details]

Citations: Scopus - 18Web of Science - 21

Co-authors: Mackey DA

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2008Zhu G, Hewitt AW, Ruddle JB, Kearns LS, Brown SA, et al., 'Genetic dissection of myopia: evidence for linkage of ocular axial length to chromosome 5q', Ophthalmology, 115, (6) pp. 1053-1057. ISSN 0161-6420 (2008) [Refereed Article]

DOI: 10.1016/j.optha.2007.08.013 [eCite] [Details]

Citations: Scopus - 48Web of Science - 39

Co-authors: Mackey DA

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2007Bennett SL, Hewitt A, Poulsen JL, Kearns LS, Morgan JE, et al., 'Screening for glaucomatous disc changes prior to diagnosis of glaucoma in myocilin pedigrees', Archives of Ophthalmology, 125, (1) pp. 112-116. ISSN 0003-9950 (2007) [Refereed Article]

DOI: 10.1001/archopht.125.1.112 [eCite] [Details]

Citations: Scopus - 4Web of Science - 4

Co-authors: Craig JE; Mackey DA

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2007Cohn AC, Toomes C, Potter C, Towns KV, Hewitt AW, et al., 'Autosomal dominant optic atrophy: penetrance and expressivity in patients with OPA1 mutations', American Journal of Ophthalmology, 143, (4) pp. 656-662. ISSN 0002-9394 (2007) [Refereed Article]

DOI: 10.1016/j.ajo.2006.12.038 [eCite] [Details]

Citations: Scopus - 100Web of Science - 93

Co-authors: Mackey DA

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2007Dimasi DP, Hewitt AW, Straga T, Pater J, MacKinnon JR, et al., 'Prevalence of CYP1B1 mutations in Australian patients with primary congenial glaucoma', Clinical Genetics, 72, (3) pp. 255-260. ISSN 0009-9163 (2007) [Refereed Article]

DOI: 10.1111/j.1399-0004.2007.00864.x [eCite] [Details]

Citations: Scopus - 42Web of Science - 41

Co-authors: Mackey DA

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2007Green CM, Kearns LS, Wu J, Barbour JM, Wilkinson RM, et al., 'How significant is a family history of glaucoma? Experience from the Glaucoma Inheritance Study in Tasmania', Clinical and Experimental Ophthalmology, 35, (9) pp. 793-799. ISSN 1442-6404 (2007) [Refereed Article]

DOI: 10.1111/j.1442-9071.2007.01612.x [eCite] [Details]

Citations: Scopus - 65Web of Science - 60

Co-authors: Wu J; Wilkinson RM; Ring M; Craig JE; Mackey DA

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2007Hewitt AW, 'Genetic diseases of the optic nerve head: from embryogenesis to pathogenesis', Expert Review of Ophthalmology, 2, (5) pp. 769-777. ISSN 1746-9899 (2007) [Refereed Article]

DOI: 10.1586/17469899.2.5.769 [eCite] [Details]

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2007Hewitt AW, Bennett SL, Fingert JH, Cooper RL, Stone EM, et al., 'The optic nerve head in myocilin glaucoma', Investigative Ophthalmology & Visual Science, 48, (1) pp. 238-243. ISSN 0146-0404 (2007) [Refereed Article]

DOI: 10.1167/iovs.06-0611 [eCite] [Details]

Citations: Scopus - 15Web of Science - 14

Co-authors: Mackey DA

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2007Hewitt AW, Bennett SL, Richard JE, Dimasi DP, Booth AP, et al., 'Myocilin Gly252Arg mutation and glaucoma of intermediate severity in Caucasian individuals', Archives of Ophthalmology, 125, (1) pp. 98-104. ISSN 0003-9950 (2007) [Refereed Article]

DOI: 10.1001/archopht.125.1.98 [eCite] [Details]

Citations: Scopus - 13Web of Science - 12

Co-authors: Mackey DA

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2007Hewitt AW, Kearns LS, Jamieson RV, Williamson KA, Heyningen VV, et al., 'PAX6 mutations may be associated with high myopia', Ophthalmic Genetics, 28, (3) pp. 179-182. ISSN 1381-6810 (2007) [Contribution to Refereed Journal]

DOI: 10.1080/13816810701356676 [eCite] [Details]

Citations: Scopus - 50Web of Science - 45

Co-authors: Mackey DA

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2007Hewitt AW, Poulsen JP, Alward WLM, Bennett SL, Budde WM, et al., 'Heritable features of the optic disc: a novel twin method for determining genetic significance', Investigative Ophthalmology & Visual Science, 48, (6) pp. 2469-2475. ISSN 0146-0404 (2007) [Refereed Article]

DOI: 10.1167/iovs.06-1470 [eCite] [Details]

Citations: Scopus - 20Web of Science - 20

Co-authors: Mackey DA

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2007Hewitt AW, Samples JR, Allingham RR, Jarvela I, Kitsos G, et al., 'Investigation of founder effects for the Thr377Met Myocilin mutation in glaucoma families from differing ethnic backgrounds', Molecular Vision, 13, (50-51) pp. 487-492. ISSN 1090-0535 (2007) [Refereed Article]

PMID: 17417609 [eCite] [Details]

Citations: Scopus - 11Web of Science - 12

Co-authors: Mackey DA

Tweet

2006Craig JE, Hewitt AW, Dimasi DP, Howell N, Toomes C, et al., 'The role of the Met98Lys optineurin variant in inherited optic nerve diseases', British Journal of Ophthalmology, 90, (11) pp. 1420-1424. ISSN 0007-1161 (2006) [Refereed Article]

DOI: 10.1136/bjo.2006.099333 [eCite] [Details]

Citations: Scopus - 20Web of Science - 15

Co-authors: Mackey DA

Tweet

2006Hewitt A, Jeganathan VS, Kidd JE, Pesudovs K, Verma N, 'Influence of photodynamic therapy for age related macular degeneration upon subjective vision related quality of life', Graefe'S Archive for Clinical and Experimental Ophthalmology, 244, (8) pp. 972-977. ISSN 0721-832X (2006) [Refereed Article]

DOI: 10.1007/s00417-005-0218-x [eCite] [Details]

Citations: Scopus - 15Web of Science - 13

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2006Hewitt AW, Bennett SL, Dimasi DP, Craig JE, Mackey DA, 'A myocilin Gln368STOP homozygote does not exhibit a more severe glaucoma phenotype than heterozygous cases', American Journal of Ophthalmology, 141, (2) pp. 402-403. ISSN 0002-9394 (2006) [Refereed Article]

DOI: 10.1016/j.ajo.2005.08.073 [eCite] [Details]

Citations: Scopus - 17Web of Science - 16

Co-authors: Mackey DA

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2006Hewitt AW, Cooper RL, 'Nosology and the glaucomas', Clinical and Experimental Ophthalmology, 34, (1) pp. 94. ISSN 1442-6404 (2006) [Letter or Note in Journal]

[eCite] [Details]

2006Hewitt AW, Craig JE, Mackey DA, 'Complex genetics of complex traits: the case of primary open-angle glaucoma', Clinical and Experimental Ophthalmology, 34, (5) pp. 472-484. ISSN 1442-6404 (2006) [Refereed Article]

DOI: 10.1111/j.1442-9071.2006.1268.x [eCite] [Details]

Citations: Scopus - 66Web of Science - 61

Co-authors: Mackey DA

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2006Hewitt AW, Dimasi DP, Mackey DA, Craig JE, 'A Glaucoma case-control study of the WDR36 gene D658G sequence variant', American Journal of Ophthalmology, 142, (2) pp. 324-325. ISSN 0002-9394 (2006) [Refereed Article]

DOI: 10.1016/j.ajo.2006.02.041 [eCite] [Details]

Citations: Scopus - 60Web of Science - 52

Co-authors: Mackey DA

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2006Hewitt AW, MacKinnon JR, Giubilato A, Elder JE, Craig JE, et al., 'Familial transmission risk of infantile glaucoma in Australia', Ophthalmic Genetics, 27, (3) pp. 93-97. ISSN 1381-6810 (2006) [Refereed Article]

DOI: 10.1080/13816810600870843 [eCite] [Details]

Citations: Scopus - 2Web of Science - 2

Co-authors: Mackey DA

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2006Hewitt AW, Traill A, Cooper RL, Morgan JE, Mackey DA, 'Tools for cup:disc ratio measurement. Letters to the Editor', Clinical and Experimental Ophthalmology, 34 pp. 288-289. ISSN 1442-6404 (2006) [Letter or Note in Journal]

[eCite] [Details]

Co-authors: Mackey DA

2006Wu J, Hewitt A, Green CM, Ring M, McCartney PJ, et al., 'Disease Severity of Familial Glaucoma Compared With Sporadic Glaucoma', Archives of Ophthalmology, 124, (7) pp. 950-954 . ISSN 0003-9950 (2006) [Refereed Article]

DOI: 10.1001/archopht.124.7.950 [eCite] [Details]

Citations: Scopus - 37Web of Science - 36

Co-authors: Ring M; McCartney PJ; Mackey DA

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2005Dimasi DP, Hewitt AW, Green CM, Mackey DA, Craig JE, 'Lack of association of p53 polymorphisms and haplotypes in high and normal tension open angle glaucoma', Journal of Medical Genetics, 42, (9) pp. e55-e58. ISSN 0022-2593 (2005) [Refereed Article]

DOI: 10.1136/jmg.2005.032458 [eCite] [Details]

Citations: Scopus - 22Web of Science - 19

Co-authors: Mackey DA

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2005Hewitt AW, Burdon KP, 'The relative contribution of the X chromosome to ocular phenotypes', Ophthalmic Genetics, 26, (4) pp. 191-193. ISSN 1381-6810 (2005) [Letter or Note in Journal]

DOI: 10.1080/13816810500374375 [eCite] [Details]

Citations: Scopus - 1

Co-authors: Burdon KP

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2005Hewitt AW, Cooper RL, 'Relationship between corneal thickness and optic disc damage in glaucoma', Clinical and Experimental Ophthalmology, 33, (2) pp. 158-163. ISSN 1442-6404 (2005) [Refereed Article]

DOI: 10.1111/j.1442-9071.2005.00971.x [eCite] [Details]

Citations: Scopus - 23Web of Science - 22

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2005Hewitt AW, Fitzgerald LM, Scotter LW, Mulhall LE, McKay JD, et al., 'Genotypic and phenotypic spectrum of X-linked retinoschisis in Australia', Clinical and Experimental Ophthalmology, 33, (3) pp. 233-239. ISSN 1442-6404 (2005) [Refereed Article]

DOI: 10.1111/j.1442-9071.2005.01018.x [eCite] [Details]

Citations: Scopus - 26Web of Science - 25

Co-authors: Fitzgerald LM; McKay JD; Mackey DA

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2005McKay JD, Patterson B, Craig JE, Russell-Eggitt E, Wirth MG, et al., 'The telomere of human chromosome 1p contains at least two independent autosomal dominant congenital cataract genes', British Journal of Ophthalmology, 89, (7) pp. 831-834. ISSN 0007-1161 (2005) [Refereed Article]

DOI: 10.1136/bjo.2004.058495 [eCite] [Details]

Citations: Scopus - 24Web of Science - 22

Co-authors: McKay JD; Patterson B; Craig JE; Burdon KP; Mackey DA

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2005Toh TY, Liew SHM, MacKinnon JR, Hewitt AW, Poulsen JL, et al., 'Central Corneal Thickness Is Highly Heritable: The Twin Eye Studies', Investigative Ophthalmology & Visual Science, 46, (10) pp. 3718-3722. ISSN 0146-0404 (2005) [Refereed Article]

DOI: 10.1167/iovs.04-1497 [eCite] [Details]

Citations: Scopus - 109Web of Science - 113

Co-authors: Mackey DA

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2003Hewitt A, Flekser R, Harcourt D, Sinha SN, 'The evolution of a hospital based leg ulcer clinic', Primary Intention, 11, (2) pp. 75-85. ISSN 1323-2495 (2003) [Refereed Article]

[eCite] [Details]

Co-authors: Sinha SN

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2002Hewitt A, Verma N, 'Posterior capsule opacification after cataract surgery in remote Australian Aboriginal patients', Clinical and Experimental Ophthalmology, 30, (4) pp. 248-251. ISSN 1442-6404 (2002) [Refereed Article]

DOI: 10.1046/j.1442-9071.2002.00531.x [eCite] [Details]

Citations: Scopus - 7Web of Science - 7

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2001Hewitt A, Verman N, Gruen R, 'Visual outcomes for remote Australian Aboriginal people after cataract surgery', Clinical and Experimental Ophthalmology, 29, (2) pp. 68-74. ISSN 1442-6404 (2001) [Refereed Article]

DOI: 10.1046/j.1442-9071.2001.00378.x [eCite] [Details]

Citations: Web of Science - 10

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Conference Publication

(4 outputs)
YearCitationAltmetrics
2014Cook AL, Ashworth Briggs EL, Toh T, Eri RD, Hewitt A, 'Defining conditions to direct human pluripotent stem cells towards the glaucoma-affected trabecular meshwork cell lineage', 2014 Australian Health and Medical Research Congress (AHMRC), 16-19 November, 2014, Melbourne, Australia (2014) [Conference Extract]

[eCite] [Details]

Co-authors: Cook AL; Ashworth Briggs EL; Eri RD

2014Keith LJ, Briggs ELA, Davidson KC, Wong RCB, Pebay A, et al., 'Defining conditions to direct human pluripotent stem cells towards the glaucoma-affected trabecular meshwork cell lineage', Narrowing the Gap Between Stem Cell Science and Cell Therapy, 9-11 November, 2014, Victoria, Australia (2014) [Conference Extract]

[eCite] [Details]

Co-authors: Keith LJ; Cook AL

2005Hewitt AW, Poulsen JP, Kearns LS, Mackey DA, 'A novel twin method for determining the significance of heritability of traits', Proceedings of the 5th Australasian Human Gene Mapping Conference Incorporating the 9th Australian Twin Registry Conference, 23-25 November 2005, Mt. Buller, Victoria (2005) [Conference Extract]

[eCite] [Details]

Co-authors: Mackey DA

2001Hewitt AW, Verma N, Gruen R, Walker JH, 'Follow-up of cataract surgery in remote people from the Top End of the Northern Territory', Good Health-Good Country from conception to completion, 4-7 March 2001, Canberra, ACT, pp. 1-10. ISBN 0 9577630 1 8 (2001) [Refereed Conference Paper]

[eCite] [Details]

Co-authors: Walker JH

Grants & Funding

Funding Summary

Number of grants

30

Total funding

$26,736,588

Projects

A new substrate reduction strategy to treat childhood dementias: Glucosylceramide synthase-targeting antisense oligonucleotides (2023 - 2025)$599,978
Description
Lysosomal storage disorders (LSDs) contribute to the burden of childhood dementia and are characterised by accumulation (storage) of macromolecules, due to loss-of-function mutation of lysosomal enzymes. One treatment strategy for LSDs is substrate reduction therapy, which aims to limit the production of macromolecules to a level at which residual enzyme activity is sufficient to prevent accumulation. Glucosylceramide synthase (GCS) is a widely expressed enzyme that catalyses the first step in synthesis of glycosphingolipids, a lipid that accumulates in many LSDs. Inhibition of GCS using miglustat (Zavesca) is currently approved in some countries to treat several LSDs, however, gastrointestinal side effects, weight loss, and tremor are common, and it has a low ability to transverse the blood-brain barrier limiting its' use for childhood dementia.Here we will develop an approach complementary to pharmacological inhibition of the GCS enzyme, by developing antisense oligonucleotides (ASOs) and testing their ability to decrease expression of GCS and thereby lower glycosphingolipid accumulation. ASOs are an ideal complementary therapy to agents such as miglustat because they target the GCS-encoding mRNA to decrease the amount of enzyme produced, and can exert long-lasting effects throughout the brain when delivered to pre-clinical animal models or humans. We have hypothesised that GCS-trageting ASOs will provide benefit to multiple LSDs that cause childhood dementia, because of close genetic and biochemical association with gylcosphingolipid metabolism or through pre-clinical studies where miglustat and related small molecular inhibitors of GCS have rescued disease-related phenotypes. We will use multiple human cell-based models to determine diseases where GCS-targeting ASOs are effective, and test target engagement in mice. We anticipate GCS-targeting ASOs will bridge the gap to disease-modifying therapies for LSDs and improve care for children with dementia.
Funding
Medical Research Future Fund ($599,978)
Scheme
Grant - Preventative and Public Health Research
Administered By
University of Tasmania
Research Team
Cook AL; Aung-Htut M; Perry SE; King AE; Wilton S; Hewitt A; Ware T; McIntosh C; Baynam G; Wallis M
Period
2023 - 2025
PAGETURNA: Pioneering Application of Gene Editing to Transplant Using RNA (2023 - 2024)$979,980
Description
The aim of PAGETURNA is to develop cutting-edge gene editing technologies that prevent children and young adults from dying of inherited bone marrow failure syndromes (BMFS). PAGETURNA will improve stem cell transplant success rates, reduce costs, side effects and stress on families, and enable rapid translation into practice.
Funding
Medical Research Future Fund ($979,980)
Scheme
Grant - Stem Cell Therapies Mission
Administered By
University of Tasmania
Research Team
Deans A; Hewitt A; Fairfax KA
Period
2023 - 2024
Harnessing genetics to halt the sneak thief of sight. (2022 - 2026)$2,072,570
Description
Glaucoma is the leading cause of irreversible blindness worldwide. Open-angle glaucoma is often referred to as the sneak thief of sight as the early stages are asymptomatic, but the natural history is progressive loss of peripheral vision, at rates that differ markedly between individuals and, in advanced cases, lead to total blindness. Loss of driving licence is a common outcome in intermediate stage disease, with legal blindness and complete loss of independence in late stage disease. Glaucoma is one of the most heritable diseases and one of the few conditions where early molecular diagnosis and profiling will enable anticipatory care and the prevention of blindness. Over the next five years, my collaborative team will build an evidence-base for glaucoma screening, which incorporates genetic testing - a first for glaucoma management and risk stratification.Research Program 1 will ensure that Australia continues to lead the world in glaucoma genetic discovery, and within five years we will implement evidence-based, genetic risk profiling to reduce the blindness burden for open-angle glaucoma. Genome-wide association study design has proven to be a robust means to dissect complex traits, and next-generation sequencing approaches are rapidly yielding highly penetrant causative variants. To date, much of our effort on clinical translation has focussed on monogenic forms of glaucoma; however, through recent discoveries we are now ready to robustly assess the clinical implementation of polygenic risk profiling for this blinding disease.In Program 2 & 3, my team will harness induced pluripotent stem cell, genome-wide association study design, and CRISPR/Cas technology, to open the transformative power of expression quantitative trait mapping and transcriptional profiling at a single cell resolution, in cells directly involved in glaucoma disease pathogenesis. This work will enable the immediate prioritisation of novel therapeutic targets for glaucoma.
Funding
National Health & Medical Research Council ($2,072,570)
Scheme
Fellowship-Investigator Grant
Administered By
University of Tasmania
Research Team
Hewitt A
Period
2022 - 2026
Grant Reference
2009079
Development and validation of a gene editing therapy for CLN2-related disease (2021)$50,000
Description
We have recently compared the base editing profile of circularly permuted and domain inlaid base editors, characterizing their transcriptomic signature at promiscuous RNA transcripts, and have found that the RNA off-target profile of base editors can be modulated by their secondary structural arrangement. With this insight, we engineered the first high-efficiency, high-fidelity, miniaturized adenine base editor (ABE) that can comfortably fit within the packaging constraints of adeno-associated virus (AAV)-delivery systems. Our variant of the ABE (microABE-I744) has up to a 22-fold improvement to on-target DNA editing compared to Staphylococcus aureus (Sa) Cas9 variants with N-terminal linked ABEmax and the recently described, miniABEmax. Additionally, the microABE-I744 has a dramatically reduced RNA-off target footprint on the transcriptome compared to existing SaCas9 ABE variants without sacrificing robust on-target editing, and can also be successfully packaged into AAVs. Building on this pilot data, we now aim to directly correct a disease-causing variant in a pre-clinical model of CLN2.
Funding
Batten Disease Support and Research Association ($50,000)
Scheme
Contract Research
Administered By
University of Tasmania
Research Team
Hewitt A
Year
2021
Isogenic iPSC models with CLN3 variants for high throughput drug screening (2021)$49,400
Description
To advance therapeutic strategies for Batten disease, we will use our existing isogenic iPSC models with CLN3 variants to:Aim 1: Measure CLN3-dependent changes in neuronal network activity using multielectrode arrays.Aim 2: Quantify CLN3-dependent changes in lysosomal, mitochondrial and autophagy function in neurons.Aim 3: Identify CNS-penetrant drugs that exhibit efficacy against CLN3-variant associated neuron changes.
Funding
Batten Disease Support and Research Association ($49,400)
Scheme
Grant-Research
Administered By
University of Tasmania
Research Team
Cook AL; Hewitt A; King AE; Perry SE
Year
2021
Strong, fast, then none: development of novel promoters for gene-editing therapies (2021)$38,000
Description
This work expands on our development of novel domain inlaid base editors which can facilitate the direct correction of a well-established disease-causing variants for a vast array of inherited retinal diseases. The overriding hypothesis of this research is that novel promoter sequences can be developed, and throughput profiling will facilitate the timely and safe application of this leading gene-editing technology.The specific aims of this work are to:1) Synthesize, clone and screen amenable disease-causing variants annotated in the ClinVar database for their suitability of correction using our novel micro-ABE.2) Develop and profile novel synthetic promoters, which are readily silenced following initial expression.
Funding
Retina Australia ($38,000)
Scheme
Grant-Research
Administered By
University of Tasmania
Research Team
Hewitt A
Year
2021
Gaining new insights into metastatic bone tumours (2020)$24,925
Description
Molecular analysis of prostate cancer tumour specimen to identify new molecular targets for therapy.
Funding
Royal Hobart Hospital Research Foundation ($24,925)
Scheme
Grant-Project
Administered By
University of Tasmania
Research Team
Dickinson JL; Holloway AF; Nott LM; Liu G; FitzGerald LM; Brettingham-Moore KH; Hewitt A; Taberlay PC
Year
2020
Bone marrow failure syndromes (2020 - 2023)$49,161
Description
This project will be fundamental for the functional validation of the putative loci effecting blood cell phenotypes identified through the GWAS-based mapping of bone marrow expression profiles. The project would involve collecting primary samples, performing CRISPR modification of cell lines and primary human hematopoeitic stem cells. In addition some basic analysis in R and work with scRNAseq datasets will be performed.
Funding
Maddie Riewoldt's Vision ($49,161)
Scheme
Scholarship - Alex Gadomski PhD
Administered By
University of Tasmania
Research Team
Hewitt A
Period
2020 - 2023
Translating patient stem cells into personalised screens for age-related macular degeneration (2020 - 2021)$881,907
Description
There are no treatments to prevent or reverse vision loss from the dry form of age-related macular degeneration (AMD). This is largely due to the fact that there are currently no good models in which to study AMD, haltering the discovery of efficient treatments. Patient induced pluripotent stem cells (iPSCs), are a powerful tool to investigate retinal disease, as cells from selected individuals or specific genetic background can be differentiated into specific cell types to make a biopsy in a dish and obtain disease models for therapy development. It is well established that the retinal pigment epithelium (RPE) is compromised, and integral to the disease process in AMD.Using iPSCs, we and others demonstrated that RPE cells produce drusen-like deposits - key pathological markers of AMD- that are detectable using simple microscopy techniques. This discovery brings to the forefront of research a novel, powerful and pathologically relevant model of human retinal disease. We will extend on this recent finding by using high throughput screening platforms coupled with cutting edge microscopic techniques to detect drusen in patient iPSC-derived RPE cells; use this methodology for screens of therapeutical candidates, select hits and screen for impact on drusen in patient lines for subsequent clinical translation.Findings from this critical proof of concept in vitro research will bridge the gap in current models, with the intention of identifying appropriate drug candidates for clinical therapy of rAMD It will thus allow the screening and identification of novel therapeutical approaches to treatments of AMD using patient cells.
Funding
Medical Research Future Fund ($881,907)
Scheme
Grant - Stem Cell Therapies Mission
Administered By
The University of Melbourne
Research Team
Pebay A; Hewitt A
Period
2020 - 2021
Translating genetic determinants of glaucoma into better diagnosis and treatment (2019 - 2023)$9,466,000
Description
Glaucoma is the leading cause of irreversible blindness worldwide. By 2020, it will affect 80 million people worldwide. In Australia over thenext decade, the total cost of primary open angle glaucoma (POAG) is expected to total $4.3 billion per annum. This program brings togetherthree synergistic themes, each at distinct stages of the translational pipeline. Our team has led or been directly involved with the majority ofgenetic discoveries in POAG. We are founding members of the International Glaucoma Genetics Consortium, drive the glaucoma researchagenda, and have an outstanding track record jointly in ground breaking publications and grants. In THEME A we will expand the world's onlybiobank of patients with advanced glaucoma, enhancing gene-discovery work by applying leading GWAS and sequencing approaches. InTHEME B, highly innovative strategies to dissect POAG genetic pathogenesis will be used. We have amassed the world's largest patient andgenotype specific-iPSC repository for studying POAG. Transcriptional profiling of mutant and isogenic CRISPR/Cas corrected lines will beundertaken. We will also use a human glaucoma tissue specific expression atlas to complement our large-scale use of iPSCs characterise themolecular basis of POAG. Finally, in THEME C we will pioneer development of an evidence-base to manage glaucoma patients incorporatinggenetic testing into risk stratification. The identification of high penetrance mutations will alter clinical practice through the use of cascade genetic testing and early intervention. Gene-based risk scores integrated with clinical determinants of disease progression will be developed, and assessed in our longitudinal cohort study of glaucoma suspects. Savings will accrue from rational application of monitoring and treatment costs, obtained by identifying lower risk individuals for less intensive monitoring than current guidelines. High risk patients will access early intervention reducing blindness.
Funding
National Health & Medical Research Council ($9,466,000)
Scheme
Grant-Program
Administered By
Flinders University
Research Team
Craig J; Mackey D; MacGregor S; Hewitt A
Period
2019 - 2023
Grant Reference
1150144
Proteomic analysis of exosomes from iPS cell-derived neurons with mislocalised TDP-43 (2019)$99,665
Description
Our overarching hypothesis is that TDP-43 mislocalisation leads to altered axonal and exosomal protein expression, and which may underpin the mechanism of TDP-43 pathological spread leading to neurodegeneration of motor circuits in ALS. To begin testing this hypothesis, we have designed experiments to address three Specific Aims:Aim 1: To characterize human iPS cell-based models of TDP-43 mislocalisationAim 2: To quantify proteins differentially expressed in axons and exosomes of iPS cell-derived neurons with and without TDP-43 mislocalisationAim 3: To quantify transmission of TDP-43 mislocalisation and altered phosphorylation in a human cerebral organoid model
Funding
Motor Neurone Disease Research Australia ($99,665)
Scheme
Grant - Innovator
Administered By
University of Tasmania
Research Team
Cook AL; King AE; Atkinson RAK; Perry SE; Hewitt A
Year
2019
Rapid antibody development for improved cancer immunotherapy diagnostics (2019)$9,841
Description
Development of tools such as monoclonal antibodies to study the immune system can be time consuming, costly, and technically challenging. Recently, a technique called phage-assisted continuous evolution (PACE) was developed to harness the rapid evolution of bacteriophages to produce novel biomolecules1,2. We have recently established the PACE system here at Menzies, and we will now apply this system to the development of monoclonal antibodies. We will use the PACE system to produce single-domain antibodies (sdAb, aka Nanobodies). sdAbs are derived from the variable coding region of heavy-chain only antibodies from the camelid family (e.g. camels, llamas, alpaca). The unique heavy chain only antibodies from camels are simpler to produce than antibodies from other species because they require only one protein-coding gene sequence (e.g. the variable region), whereas other species require at least a heavy chain variable region, a light chain variable region, and in most cases the heavy and light chain constant regions. sdAbs have been shown to a protein binding capacity similar to traditional antibodies, but have the added benefit of being very small, which facilitates their use in applications that require small proteins. Importantly, the ability of a single gene to produce a high-affinity antibody lends itself to the PACE system because only one gene needs to be evolved, thus eliminating complications of matching heavy and light chain genes to produce a functional antibody. We will initially reproduce a published sdAb that targets a key immune molecule3 to demonstrate our capacity to make sdAbs. Then we will produce a phage library that represents the germline heavy chain only variable regions encoded in the camels, llamas, and alpaca genome. We can then allow the phages to compete for binding to target antigens and allow evolution to produce a high-affinity sdAb in a few weeks. Traditional monoclonal antibodies take 2-6 months to produce.
Funding
Royal Hobart Hospital Research Foundation ($9,841)
Scheme
Grant-Incubator
Administered By
University of Tasmania
Research Team
Flies AS; Hewitt A; Nott LM
Year
2019
Pre-clinical validation, optimisation, and safety profiling of CRISPR/Cas-base editing for PCDH15-related disease. (2019)$733,314
Description
The overriding hypothesis of this work is that Clustered Regularly Interspersed Short Palindromic Repeat (CRISPR) and CRISPR-associated (Cas) technology can be used as an anticipatory cure to well-defined inherited retinal diseases caused by single nucleotide substitutions. The aim of this proposal is to use patient-specific induced pluripotent stem cells (iPSCs) to demonstrate the safety and efficacy of CRISPR/Cas-base editing constructs for the anticipatory cure of Usher Syndrome. In preparation for a Phase 1, first in human clinical trial, we will construct and test single vector plasmids to deliver SaCas9 with an appropriate promoter, single guided RNA (sgRNA) and an optimised adenine base editor (ABE) to correct the Arg245Ter PCDH15 disease causing variant.
Funding
Medical Research Future Fund ($733,314)
Scheme
Grant - Accelerated Research
Administered By
University of Tasmania
Research Team
Hewitt A; Pebay A; Cook AL
Year
2019
Functional interrogation of loci associated with the regulation of haematopoiesis (2019 - 2020)$149,512
Description
New therapies and markers for bone marrow failure will be identified by answering fundamental questions such as What genes determine the proportion of specific cell types in the blood? and What are the underlying genetic drivers for gene expression in different blood cells? This work will harness the power of genome-wide association analysis, where all common genetic variants are compared between people, and single cell RNA-seq, a disruptive and ground-breaking technology that enables the direct quantification of gene expression in individual cells. This research will build upon work underway, which aims to identify cell and context-specific mutations that vary in their functional effect on blood cell phenotypes. We are currently aiming to catalogue, at scale, the genetic drivers of specific sub-populations of blood cells. Using seed MRV funding we are collecting and processing bone marrow aspirate samples from healthy people in Tasmania. To expand this work, the Maddie's Vision / Alex Gadomski Fellow will undertake functional experiments to molecularly characterize the identified loci.
Funding
Maddie Riewoldt's Vision ($149,512)
Scheme
Fellowship - Alex Gadomski
Administered By
University of Tasmania
Research Team
Fairfax KA; Hewitt A
Period
2019 - 2020
High-Content and High-Throughput Platforms for Analysis of Stem Cells and their Derivatives (2019)$1,700,000
Description
This proposal is for strategic and specialised equipment underpinned by basic infrastructure required tosupport neurodegenerative disease research within the CHM.
Funding
University of Tasmania ($1,700,000)
Scheme
null
Administered By
University of Tasmania
Research Team
Hewitt A; Cook AL; Dickson TC
Year
2019
Functional interrogation of a novel locus associated with the development of Giant Cell Arteritis (2018)$24,516
Description
Giant Cell Arteritis (GCA) is the most common form ofvasculitis in elderly people. GCA is an ophthalmicemergency, making a timely diagnosis and interventioncrucial. We have identified a novel locus, which confersrisk for GCA and this work will functionally interrogate therole of this locus.
Funding
Royal Hobart Hospital Research Foundation ($24,516)
Scheme
Grant-Minor Project
Administered By
University of Tasmania
Research Team
Hewitt A; Wing K; Powell J
Year
2018
Stem Cells Australia Special Research Initiative (extension to existing SRI) (2018)$3,000,000
Description
Stem cells have long been a key research strength within Australian biomedical science. Federal support for this area, notably from the Australian Research Council, has spanned the last 15 years. Since 2012, Stem Cells Australia (SCA) has operated as a Strategic Research Initiative of the ARC, supporting advances in fundamental stem cell science in order to underpin eventual biomedical advances. As this SRI reaches maturation, we propose a repositioning of the portfolio to prepare stem cell science for stem cell medicine in Australia. This evolution is essential if Australia is to maintain international parity for stem-cell based therapeutics, develop precision medicine based on patient-derived stem cell modelling and to be able to capitalise on new industries based on stem cell biology. Our stem cell research will also prime new areas of Australian research excellence in discovery programs aimed at understanding fundamental rules about cell identity and molecular networks.These three programs are* Regenerative Medicine* Disease modelling* Designer cells
Funding
Australian Research Council ($3,000,000)
Scheme
Grant-Special Research Initiatives
Administered By
University of Melbourne
Research Team
Little M; Harvey R; Wells C; Hewitt A
Year
2018
Grant Reference
SR110001002
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 K; Taylor BVM; Charlesworth JC; Hewitt A
Period
2018 - 2020
From Discovery to therapy in genetic eye diseases (2017 - 2021)$2,498,223
Description
Ophthalmology has always been at the forefront of genetic discovery and this has led to an improved understanding of the biological mechanism of manyinherited eye diseases. This CRE brings together leading researchers from all the genetic eye disease groups across Australia to capitalize on the newtechnologies in ocular imaging and genetic discovery. The research team has a strong track record in identifying and characterising genes that cause bothMendelian and complex blinding eye diseases and in translating these findings into clinical care. Building on our previous experience and using new imagingtechnology such as optical coherence tomography, adaptive optics and micro-perimetry we will progress research to precisely define the natural history ofblinding eye diseases. This is essential for clinical trials to proceed efficiently. Access to a national network of patients and families with specific geneticsubtypes of eye diseases will enable us to facilitate and initiate treatment trials for inherited ophthalmic conditions. In conjunction with patient andcommunity organisations we will develop world leading models for genetic risk prediction and for feedback of genetic results for both Mendelian andcomplex eye diseases. Our work will extend to analyzing health economics as well as the legal and ethical aspects of genetic research. Central to the CRE willbe the training of researchers and eye care providers to develop best clinical practice using our research findings. Our team members are experiencedparticipants in international consortia for eye disease gene discovery; Australia's national disease registries and biobanks place us in a key position to alsoparticipate in international gene based treatment trials for a large number of disorders. Translation of this research into care for genetic eye disease ispredictive, preventive, personalised and participatory.
Funding
National Health & Medical Research Council ($2,498,223)
Scheme
Grant-Centre of Research Excellence
Administered By
University of Western Australia
Research Team
Mackey D; Craig J; Hewitt A; Burdon KP; Jamieson R; Grigg JR; MacGregor S; Chen F; Otlowski MFA; Schofield D
Period
2017 - 2021
Grant Reference
1116360
Investigating Batten disease-causing CLN3 mutations in patient-specific stem cells and neurons (2017)$24,898
Description
Batten disease is a rare childhood disease that results in dementia and a progressive loss of vision, and which can be due to mutation of the CLN3 gene. Using advances in stem cell technologies, we will study how the Batten disease-causing mutations in CLN3 differently affect nerve health.
Funding
Royal Hobart Hospital Research Foundation ($24,898)
Scheme
Grant-Establishment
Administered By
University of Tasmania
Research Team
Cook AL; Hewitt A; King AE; Ware T
Year
2017
CRISPR/Cas gene editing of Batten disease genes in patient-specific stem cells (2017)$51,411
Description
Batten disease is a rare childhood disease that results in dementia and a progressive loss of vision, and which can be due to mutation of the several genes, including CLN2 and CLN3. Using advances in stem cell technologies, we will study how the Batten disease-causing mutations in these genes differently affect nerve health.
Funding
Batten Disease Support and Research Association ($51,411)
Scheme
Grant-Research
Administered By
University of Tasmania
Research Team
Cook AL; Hewitt A; King AE; Pebay A; Grubman A
Year
2017
Preclinical Development of Neuropeptide Y for the Treatment of Motor Neuron Disease (2017 - 2020)$936,572
Description
Motor Neuron Disease (MND) is a rapidly progressing neurodegenerative disease. There are no cures and no effective treatments for MND, with people diagnosed having a median survival of only three years from symptom onset. Not knowing the cause of MND or how it progresses through the CNS have been immense barriers to the development of effective therapeutics. We have reached a critical time in MND research. Our research team has been dedicated to researching the mechanism of MND for the last ten years. We are now poised to transition my teams research efforts from determining the cause of this disease to using this knowledge to develop treatments. A critical pathway that our work and others have shown is key to MND is altered network excitability and subsequent excitotoxicity in the cortex. We have recent published and preliminary data that identifies that a critical potential point of intervention in this pathway is via the subclass of inhibitory cells that express neuropeptide Y (NPY). The overarching Aim for this Cure for MND Translational Research Grant is to now target this pathway to develop a treatment. By performing this world-first preclinical trial we will reveal further aspects of disease pathogenesis. Positive outcomes from these trials will identify a candidate compounds for progression to a human trial for the treatment of MND.
Funding
FightMND ($936,572)
Scheme
Grant-Translational Research Grant
Administered By
University of Tasmania
Research Team
Dickson TC; Blizzard C; Pebay A; Walker A; Blizzard CL; Rogers M; Hewitt A; Zosky GR
Period
2017 - 2020
Investigating the utility of retinal Base-Editing (2017)$25,000
Description
The CRISPR/Cas system, used by bacteria to counter viral intrusion, can edit DNA in specific sites. The application of this technology opens the very real prospect of anticipatory cures to well-defined inherited retinal diseases and we propose to expand the pre-clinical investigation of DNA editing of cells in the retina.
Funding
Royal Hobart Hospital Research Foundation ($25,000)
Scheme
Grant-Establishment
Administered By
University of Tasmania
Research Team
Hewitt A; Liu R; Cook AL
Year
2017
CRISPR screen to identify key genes driving DFTD (2017)$33,500
Description
We will apply leading genomic techniques to identify the genes essential for the proliferation of the Tasmanian Devil Facial Tumour. By systematically disrupting each gene in the cancer, we will also identify genes which help the tumour evade the immune system.
Funding
University of Tasmania Foundation Inc ($33,500)
Scheme
Grant-Dr Eric Guiler Tasmanian Devil Research Gran
Administered By
University of Tasmania
Research Team
Hewitt A; Liu G; Woods GM; Flies AS; Cook AL
Year
2017
Targeting at risk relatives of glaucoma patients for early diagnosis and treatment (TARRGET) (2017 - 2019)$789,722
Description
We will evaluate a family screening program for glaucoma. We will refer high risk close relatives of severely affected glaucoma patients to havean appropriate eye examination and genetic testing for glaucoma. Over the past 20 years Glaucoma Australia has been emphasising theimportance of a family history and the need for relatives to get tested. Early diagnosis and treatment prevents glaucoma blindness. Geneticsplays a major role in the risk for glaucoma and several genes of high and moderate risk have been identified but these account for 5% ofglaucoma cases at present. We provide genetic testing for glaucoma patients and relatives through the Australian and New Zealand Registry ofAdvanced Glaucoma (ANZRAG). Pending the discovery of the other glaucoma genes, the major genetics tool in identifying individuals with ahigh risk of glaucoma is a known family history of glaucoma.We propose a coordinated targeted family screening program for relatives of people with severe glaucoma. In city areas of Perth, Adelaide,Sydney, and Tasmania we will refer first degree relatives to their local eye care provider and monitor their uptake and outcomes of screeningexamination. In 16 rural and remote locations in Western Australia, we will examine the relatives ourselves using the facilities of the recentlylaunched Lions Outback Vision Van. We will evaluate the use of new optic nerve screening modalities for glaucoma using Retinal Nerve FibreAnalysis with OCT imaging.Our main outcome measure will be the prevalence of undiagnosed glaucoma in those who participate. Secondary measures include participationrates of index cases and participation rates in first degree relatives as well as a comparison of uptake in rural areas where the ophthalmicexamination will be provided at no charge in regional centres. Participants will also be invited to provide a blood sample for DNA testing formyocilin and cascade genetic screening in the future.
Funding
National Health & Medical Research Council ($595,373)
Scheme
Grant-Partnership Project
Administered By
University of Western Australia
Research Team
Mackey D; Craig J; Hewitt A; Goldberg I; Landers J
Period
2017 - 2019
Grant Reference
1132454
Developing CRISPR/Cas Library Screens for identifying Novel Cancer Therapies (2017)$63,845
Description
Our understanding of many cancers has improved dramatically over the past decade predominantly due to our ability to sequence entire genomes, at scale. Yet, we still require a better understanding of the underlying mechanisms that initiate and perpetuate cancers, as well as gene-based factors that initiate the transition from indolent to aggressive cancers with a propensity to metastasize. CRISPR/Cas is proving a robust, powerful and necessary tool in the laboratory that will undoubtedly underpin the next breakthrough in the field of cancer. As such, it is essential that we develop this capability at the University of Tasmania in a timely manner.The specific AIMS of this proposal are to:Aim 1: Establish CRISPR/Cas screening at the University of Tasmania as a tool to identify genesthat drive aggressive and metastatic cancers.Aim 2: Perform a genome-wide CRISPR/Cas negative selection (loss-of-function) screen toidentify genes essential for proliferation and survival, as well as metastatic behaviour.
Funding
University of Tasmania Foundation Inc ($63,845)
Scheme
Grant-Cancer Research
Administered By
University of Tasmania
Research Team
Taberlay PC; Hewitt A; Holloway AF; Liu G; Dickinson JL; Brettingham-Moore KH; Fitzgerald L; Eri RD; Cook AL
Year
2017
Using stem cells to understand glaucoma (2016)$50,000
Description
Glaucoma is the leading cause of irreversible blindness worldwide and there is currently no definitive treatment for this common disease. We have recently identified a number of genes associated with glaucoma, and we now seek to use this new genetic insight to test potentialdrug targets. This work will provide data that will lead directly to pre-clinical testing of FDAapproved drugs, and which may ultimately identify novel treatments for this devastating disease.
Funding
Ophthalmic Research Institute of Australia ($50,000)
Scheme
Grant-Research
Administered By
University of Tasmania
Research Team
Cook AL; Hewitt A
Year
2016
High penetrance deleterious mutations in blinding glaucoma (2016 - 2018)$1,345,055
Description
Primary Open Angle Glaucoma (POAG) is the leading cause of irreversible blindness worldwide. The etiology of the disease is poorly understood, but it is clear that there is a major genetic component. Highly penetrant mutations in the Myocilin gene and a number of other glaucoma genes account for around 5%of POAG, and recent genome-wide association studies have identified common variants, individually of modest effect size associated with POAG in multiple cohorts. However, the majority of the heritability of POAG remains unaccounted for. We hypothesise that a significant proportion of the "missing heritability" is accounted for by rare variants of larger effect size in causative genes. We propose to sequence the exome (all known genes and transcribed regions) of a unique large well-characterised cohort of patients with very severe POAG, to identify genes enriched for deleterious mutations. This extreme phenotype strategy will increase the power to identify pathogenic mutations. Exome analysis will be performed on 1500 participants in the Australian and New Zealand Registry of Advanced Glaucoma. Genes containing the most potentially damaging variants compared with population controls will be sequenced in a replication cohort, versus hyper-normal controls to confirm the findings and identify the mutation spectrum in each gene. Disease associated genes will be investigated by expression profiling in a mouse model of glaucoma. Mice with mutations in genes of interest will be phenotypically analysed in a collaborative initiative to demonstrate a causal relationship with glaucoma. This project will determine the genes most commonly mutated in individuals with advanced glaucoma. This will lead to improved understanding of glaucoma pathogenesis, a better ability to predict risk, and elucidate drug targets fornovel therapies
Funding
National Health & Medical Research Council ($1,345,055)
Scheme
Grant-Project
Administered By
Flinders University
Research Team
Craig J; Burdon KP; MacGregor S; Hewitt A; John S; Siggs O
Period
2016 - 2018
Grant Reference
1107098
Molecular profiling to identify therapeutic targets for blinding diseases. (2016 - 2020)$467,960
Description
Understanding the precise molecular mechanisms leading to blinding disease will enable improved screening progams and the development of novel therapies. As an ophthalmologist with sub-speciality interest in inherited eye disease, I have established a world leading repository of fibroblast and iPSC lines from well-characterised patients who have either common, complex (glaucoma or age-related macular degeneration) or less common 'orphan' (in particular retinal dysthrophies), blinding diseases. Since the completion of my clinical fellowship and PhD, my research output, both in terms of publications and awarded competitive grant funding, has been steadily increasing. I have co-authored over 150 peer-reviewed manuscripts and have also helped secure over $7 million in competitive research funding.Bridging the gap between laboratory research and patient care is an important aspect of my work. There are four broad research domains which I am actively leading. Each project builds upon firmly established collaborations and outlines a unique area of investigation, whereby the information gained will provide an important step in the transition from discovery to improved risk profiling or therapy. PROJECT 1 extends my gene discovery work through the application of genome-wide association studies. PROJECT 2 will capitalise on our internationally unique cohort of patient-specific cell lines to define the precise molecular pathways involved by studying the principal cells damaged in glaucoma and macular degeneration. PROJECT 3 combines the power of in vitro modelling of patient-specific stem cell derived cells with high fidelity gene correction to definitively define the precise molecular pathways involved in genetically defined retinal dystrophies. The final domain of research (PROJECT 4) will prospectively investigate whether retinal nerve profiles mirror changes in cognitive/brain reserve and the development of ageing-related decline, cognitive impairment or dementia.
Funding
National Health & Medical Research Council ($467,960)
Scheme
Fellowship-Practitioner
Administered By
University of Tasmania
Research Team
Hewitt A
Period
2016 - 2020
Grant Reference
GNT1103329
Optimisation of CRISPR/Cas gene editing in the retina. (2016 - 2017)$72,634
Description
*Investigate the efficacy of single Clustered Regularly Interspersed Short Palindromic Repeat (CRISPR) and CRISPR-associated (Cas) plasmids for gene editing in the retina.*Validate our novel self-destructing CRISPR/Cas system and ensure, after initial activity, no functional CRISPR/Cas protein is produced.
Funding
Bayer Pharma AG ($72,634)
Scheme
Award-Global Ophthalmology Awards
Administered By
University of Tasmania
Research Team
Hewitt A; Cook AL
Period
2016 - 2017

Research Supervision

Current

8

Completed

8

Current

DegreeTitleCommenced
PhDGenome-Wide Analysis Of Gene Regulatory Networks In Primary Open Angle Glaucoma2018
PhDHuman iPSC Genetically Encoded Fluorescent Biosensor Models for Toxicity Imaging2019
PhDTranslation of Glaucoma Blindness Genes to Improve Clinical Practice2019
PhDUnderstanding Genetic Diversity within Haematopoiesis2020
PhDIdentifying Genetic Variants Causal in Telomeropathy Associated Cancer2021
PhDDevelopment and Validation of a Novel Gene Editing Therapy for CLN2 - Related Disease2021
PhDMapping conserved immunotherapy targets2022
PhDEvolving Novel Therapies for Glaucoma2022

Completed

DegreeTitleCompleted
PhDA Patient-specific Stem Cell Model of Batten Disease
Candidate: Sueanne Chear		2022
PhDEngineering and Evolving Molecular Cas-based Therapies
Candidate: Minh Thuan Nguyen Tran		2022
PhDHarnessing Trabecular Meshwork Cells for the Molecular Profiling of Primary Open-angle Glaucoma
Candidate: Qinyi Lu		2020
PhDApplying Bioinformatic Tools to Better Understand Eye Diseases
Candidate: Vikrant Singh		2020
PhDA CRISPR Way to Treat Usher Syndrome
Candidate: Qi Wang		2020
PhDDevelopment of CRISPR/Cas-Mediated Gene Editing in the Retina
Candidate: Fan Li		2020
PhDL-Proline Metabolism and the Regulation of Embryonic Stem Cell Differentiation and Programming
Candidate: Van Thi Tuong Nguyen		2019
PhDAqueous Humour Protein Imbalances in Primary Open-angle Glaucoma and Their Effects on Trabecular Meshwork Cell Function
Candidate: Esther Lara Ashworth Briggs		2018