![Jeremy Guggenheim](https://profiles-cardiff.imgix.net/attachments/2832?w=200&h=200&auto=format&crop=faces&fit=crop&q=90")
Dr Jeremy Guggenheim
Professor
Yr Ysgol Optometreg a Gwyddorau'r Golwg
- Ar gael fel goruchwyliwr ôl-raddedig
Trosolwyg
Research Overview
My research is aimed at discovering the causes of short-sightedness (myopia). Approximately 1 in 3 people in the United Kingdom suffer from myopia, and the condition increases the risk of a number of serious eye disorders. I have contributed to collaborative efforts with researchers from across the world, leading to the discovery of more than a hundred genetic variants that increase susceptibility to myopia. Nobody yet knows how most of these genetic variants play a role in myopia development, nor how best they can be used to target and improve treatment.
Teaching Overview
Currently I supervise final year students in the Cardiff University Eye Clinic.
Cyhoeddiad
2023
- Guggenheim, J. A. and Walline, J. J. 2023. Identifying non-responders to treatments for myopia. Ophthalmic and Physiological Optics (10.1111/opo.13162)
- Clark, R. et al. 2023. A new polygenic score for refractive error improves detection of children at risk of high myopia but not the prediction of those at risk of myopic macular degeneration. EBioMedicine, article number: 104551. (10.1016/j.ebiom.2023.104551)
- Musolf, A. M. et al. 2023. Rare variant analyses across multiethnic cohorts identify novel genes for refractive error. Communications Biology 6(1), article number: 6. (10.1038/s42003-022-04323-7)
2022
- Guggenheim, J. A., Clark, R., Zayats, T., Williams, C. and UK Biobank Eye and Vision Consortium, . 2022. Assessing the contribution of genetic nurture to refractive error. European Journal of Human Genetics 30, pp. 1226-1232. (10.1038/s41431-022-01126-6)
- Clark, R., Pozarickij, A., Hysi, P. G., Ohno-Matsui, K., Williams, C., Guggenheim, J. A. and UK Biobank Eye and Vision Consortium, . 2022. Education interacts with genetic variants near GJD2, RBFOX1, LAMA2, KCNQ5 and LRRC4C to confer susceptibility to myopia. PLoS Genetics 18(11), article number: e1010478. (10.1371/journal.pgen.1010478)
- Patasova, K. et al. 2022. Association analyses of rare variants identify two genes associated with refractive error. PLoS ONE 17(9), article number: e0272379. (10.1371/journal.pone.0272379)
- Plotnikov, D., Huang, Y., Khawaja, A. P., Foster, P. J., Zhu, Z., Guggenheim, J. A. and He, M. 2022. High blood pressure and intraocular pressure: a Mendelian randomization study. Investigative Ophthalmology & Visual Science 63(6), article number: 29. (10.1167/iovs.63.6.29)
- Guggenheim, J. A. et al. 2022. Whole exome sequence analysis in 51?624 participants identifies novel genes and variants associated with refractive error and myopia. Human Molecular Genetics 31(11), pp. 1909-1919. (10.1093/hmg/ddac004)
- Lee, S. S. et al. 2022. Incidence and progression of myopia in early adulthood. JAMA Ophthalmology 140(2), pp. 162-169. (10.1001/jamaophthalmol.2021.5067)
- Plotnikov, D., Pärssinen, O., Williams, C., Atan, D. and Guggenheim, J. A. 2022. Commonly occurring genetic polymorphisms with a major impact on the risk of nonsyndromic strabismus: replication in a sample from Finland. Journal of AAPOS 26(1), pp. 12.E1-12.E6. (10.1016/j.jaapos.2021.07.015)
2021
- Plotnikov, D. et al. 2021. Genetic variants associated with human eye size are distinct from those conferring susceptibility to myopia. Investigative Ophthalmology & Visual Science 62(13), article number: 24. (10.1167/iovs.62.13.24)
- Plotnikov, D., Sheehan, N. A., Williams, C., Atan, D. and Guggenheim, J. A. 2021. Hyperopia is not causally associated with a major deficit in educational attainment. Translational Vision Science & Technology 10(12), article number: 34. (10.1167/tvst.10.12.34)
- Cartwright, R. et al. 2021. Genome-wide association study identifies two novel loci associated with female stress and urgency urinary incontinence. The Journal of Urology 206(3), pp. 679-687. (10.1097/JU.0000000000001822)
- Németh, J. et al. 2021. Update and guidance on management of myopia. European Society of Ophthalmology in cooperation with International Myopia Institute. European Journal of Ophthalmology 31(3), pp. 853-883. (10.1177/1120672121998960)
- Jonas, J. B. et al. 2021. IMI prevention of myopia and Its progression. Investigative Ophthalmology & Visual Science 62(5), article number: 6. (10.1167/iovs.62.5.6)
- Morgan, I. G. et al. 2021. IMI risk factors for myopia. Investigative Ophthalmology & Visual Science 62(5), article number: 3. (10.1167/iovs.62.5.3)
- Jong, M. et al. 2021. IMI 2021 Yearly Digest. Investigative Ophthalmology & Visual Science 62(5), article number: 7. (10.1167/iovs.62.5.7)
- Tideman, J. W. L. et al. 2021. Evaluation of shared genetic susceptibility to high and low myopia and hyperopia. JAMA Ophthalmology 139(6), pp. 601-609. (10.1001/jamaophthalmol.2021.0497)
- Lingham, G. et al. 2021. Time spent outdoors in childhood is associated with reduced risk of myopia as an adult. Scientific Reports 11(1), article number: 6337. (10.1038/s41598-021-85825-y)
2020
- Baird, P. N. et al. 2020. Myopia. Nature Reviews Disease Primers 6(1), article number: 99. (10.1038/s41572-020-00231-4)
- Plotnikov, D., Williams, C., Atan, D., Davies, N. M., Ghorbani Mojarrad, N. and Guggenheim, J. A. 2020. Effect of education on myopia: evidence from the United Kingdom ROSLA 1972 reform. Investigative Ophthalmology & Visual Science 61(11), article number: 7. (10.1167/iovs.61.11.7)
- Pozarickij, A., Williamson, C. and Guggenheim, J. A. 2020. Non-additive (dominance) effects of genetic variants associated with refractive error and myopia. Molecular Genetics and Genomics 295, pp. 843-853. (10.1007/s00438-020-01666-w)
- Hysi, P. G. et al. 2020. Meta-analysis of 542,934 subjects of European ancestry identifies 336 novel genes and mechanisms predisposing to refractive error and myopia. Nature Genetics 52, pp. 401-407. (10.1038/s41588-020-0599-0)
- Fan, Q. et al. 2020. Genome-wide association meta-analysis of corneal curvature identifies novel loci and shared genetic influences across axial length and refractive error. Communications Biology 3(1), article number: 133. (10.1038/s42003-020-0802-y)
- Pozarickij, A. et al. 2020. Evidence that emmetropization buffers against both genetic and environmental risk factors for myopia. Investigative Ophthalmology & Visual Science 61(2), article number: 41. (10.1167/iovs.61.2.41)
2019
- Wood, A. and Guggenheim, J. A. 2019. Refractive error has minimal influence on the risk of age-related macular degeneration: a Mendelian randomization study. American Journal of Ophthalmology 206, pp. 87-93. (10.1016/j.ajo.2019.03.018)
- Plotnikov, D. et al. 2019. A commonly occurring genetic variant within the NPLOC4-TSPAN10-PDE6G gene cluster is associated with the risk of strabismus. Human Genetics 138(7), pp. 723-737. (10.1007/s00439-019-02022-8)
- Plotnikov, D., Williams, C. and Guggenheim, J. A. 2019. Association between birth weight and refractive error in adulthood: a Mendelian randomisation study. British Journal of Ophthalmology (10.1136/bjophthalmol-2018-313640)
- Pozarickij, A., Williams, C., Hysi, P. G., Guggenheim, J. and Consortium, U. B. E. a. V. 2019. Quantile regression analysis reveals widespread evidence for gene-environment or gene-gene interactions in myopia development. Communications Biology 2, article number: 167. (10.1038/s42003-019-0387-5)
- Huang, Y., Kee, C., Hocking, P. M., Williams, C., Guggenheim, J. A. and Yip, S. P. 2019. A Genome-Wide Association Study for Susceptibility to Visual Experience-Induced Myopia. Investigative Ophthalmology & Visual Science 60(2), pp. 559-569. (10.1167/iovs.18-25597)
- Tedja, M. S. et al. 2019. IMI myopia genetics report. Investigative Ophthalmology & Visual Science 60, pp. M89-M105. (10.1167/iovs.18-25965)
- Wildsoet, C. F. et al. 2019. IMI - Interventions for myopia onset and progression report. Investigative Ophthalmology & Visual Science 60(3), pp. M106-M131. (10.1167/iovs.18-25958)
- Plotnikov, D. and Guggenheim, J. 2019. Mendelian randomization and the goal of inferring causation from observational studies in the vision sciences. Ophthalmic and Physiological Optics 39(1), pp. 11-25. (10.1111/opo.12596)
2018
- Shah, R. L. and Guggenheim, J. 2018. Genome-wide association studies for corneal and refractive astigmatism in UK Biobank demonstrate a shared role for myopia susceptibility loci. Human Genetics 137(11-12), pp. 881-896. (10.1007/s00439-018-1942-8)
- Kang, B. S., Wang, L., Zheng, Y., Guggenheim, J. A., Stell, W. K. and Kee, C. 2018. High myopia induced by form deprivation is associated with altered corneal biomechanical properties in chicks. PLoS ONE 13(11), article number: e0207189. (10.1371/journal.pone.0207189)
- Ghorbani Mojarrad, N., Williams, C. and Guggenheim, J. 2018. A genetic risk score and number of myopic parents independently predict myopia. Ophthalmic and Physiological Optics 38(5), pp. 492-502. (10.1111/opo.12579)
- Tedja, M. S. et al. 2018. Genome-wide association meta-analysis highlights light-induced signaling as a driver for refractive error. Nature Genetics 50, pp. 834-848. (10.1038/s41588-018-0127-7)
- Mountjoy, E. et al. 2018. Education and myopia: assessing the direction of causality by mendelian randomisation. BMJ 361, article number: k2022. (10.1136/bmj.k2022)
- Tideman, J. W. L., Polling, J. R., Vingerling, J. R., Jaddoe, V. W. V. ., Williams, C., Guggenheim, J. and Klaver, C. . C. W. 2018. Axial length growth and the risk of developing myopia in European children. Acta Ophthalmologica 96(3), pp. 301-309.
- Shah, R. et al. 2018. A genome-wide association study for corneal astigmatism: The CREAM Consortium. Molecular Vision 24, pp. 127-142.
- Flitcroft, D. I., Loughman, J., Wildsoet, C. F., Williams, C., Consortium, C. and Guggenheim, J. 2018. Novel myopia genes and pathways identified from syndromic forms of myopia. Investigative Ophthalmology & Visual Science 59(1), pp. 338-348. (10.1167/iovs.17-22173)
2017
- Cuellar-Partida, G. et al. 2017. Genetically low vitamin D concentrations and myopic refractive error: a Mendelian randomization study. International Journal of Epidemiology 46(6), pp. 1882-1890. (10.1093/ije/dyx068)
- Guggenheim, J., Ghorbani Mojarrad, N., Williams, C. and Flitcroft, D. I. 2017. Genetic prediction of myopia: Prospects and challenges. Ophthalmic and Physiological Optics 37(5), pp. 549-556. (10.1111/opo.12403)
- Dillingham, C. M., Guggenheim, J. A. and Erichsen, J. T. 2017. The effect of unilateral disruption of the centrifugal visual system on normal eye development in chicks raised under constant light conditions. Brain Structure and Function 222(3), pp. 1315-1330. (10.1007/s00429-016-1279-9)
- Shah, R. L., Huang, Y., Guggenheim, J. A. and Williams, C. 2017. Time outdoors at specific ages during early childhood and the risk of incident myopia. Investigative Ophthalmology & Visual Science 58(2), pp. 1158-1166. (10.1167/iovs.16-20894)
2016
- Tideman, J. W. L. et al. 2016. When do myopia genes have their effect? Comparison of genetic risks between children and adults. Genetic Epidemiology 40(8), pp. 756 -766. (10.1002/gepi.21999)
- Guggenheim, J. A. and Williams, C. 2016. Response to: 'data from UK Biobank on febrile illness'. Eye 30(12), pp. 1651-1652. (10.1038/eye.2016.201)
- Fan, Q. et al. 2016. Childhood gene-environment interactions and age-dependent effects of genetic variants associated with refractive error and myopia: The CREAM Consortium. Scientific Reports 6, article number: 25853. (10.1038/srep25853)
- Fan, Q. et al. 2016. Meta-analysis of gene-environment-wide association scans accounting for education level identifies additional loci for refractive error. Nature Communications 7, article number: 11008. (10.1038/ncomms11008)
- Guggenheim, J. A. and Williams, C. 2016. Childhood febrile illness and the risk of myopia in UK Biobank participants. Eye 30, pp. 608-614. (10.1038/eye.2016.7)
2015
- Guggenheim, J. A. and Williams, C. 2015. Role of educational exposure in the association between myopia and birth order. JAMA Ophthalmology 133(12), pp. 1408-1414. (10.1001/jamaophthalmol.2015.3556)
- Tkatchenko, A. V. et al. 2015. APLP2 regulates refractive error and myopia development in mice and humans. PLoS Genetics 11(8), article number: e1005432. (10.1371/journal.pgen.1005432)
- Guggenheim, J. A., St Pourcain, B., McMahon, G., Timpson, N. J., Evans, D. M. and Williams, C. 2015. Assumption-free estimation of the genetic contribution to refractive error across childhood. Molecular Vision 21, pp. 621-632.
- Mahroo, O. A. et al. 2015. Interocular asymmetries in axial length and refractive error in 4 cohorts. Ophthalmology 122(3), pp. 648-649. (10.1016/j.ophtha.2014.10.021)
2014
- Guggenheim, J. A. et al. 2014. Does vitamin D mediate the protective effects of time outdoors on myopia? Findings from a prospective birth cohort. Investigative Ophthalmology and Visual Science 55(12), pp. 8550-8558. (10.1167/iovs.14-15839)
- Li, Q. et al. 2014. 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. (10.1007/s00439-014-1500-y)
2013
- Guggenheim, J. A. et al. 2013. Birth order and myopia. Ophthalmic Epidemiology 20(6), pp. 375-384. (10.3109/09286586.2013.848457))
- Cheng, C. et al. 2013. Nine loci for ocular axial length identified through genome-wide association studies, including shared loci with refractive error. American Journal of Human Genetics 93(2), pp. 264-277. (10.1016/j.ajhg.2013.06.016)
- Dillingham, C. M., Guggenheim, J. A. and Erichsen, J. T. 2013. Disruption of the centrifugal visual system inhibits early eye growth in chicks. Investigative Ophthalmology and Visual Science 54(5), pp. 3632-3643. (10.1167/iovs.12-11548)
- Wildsoet, C. F., Nickla, D. L., Guggenheim, J. A. and Logan, N. S. 2013. On the shoulders of a giant: his legacy will live on. Ophthalmic and Physiological Optics 33(3), pp. 193-195. (10.1111/opo.12064)
- Northstone, K. et al. 2013. Body stature growth trajectories during childhood and the development of myopia. Ophthalmology 120(5), pp. 1064-1073., article number: e1. (10.1016/j.ophtha.2012.11.004)
- Guggenheim, J. A. et al. 2013. Coordinated genetic scaling of the human eye: shared determination of axial eye length and corneal curvature. Investigative Ophthalmology & Visual Science 54(3), pp. 1715-1721. (10.1167/iovs.12-10560)
- Hawthorne, F. et al. 2013. Association mapping of the high-grade myopia MYP3 locus reveals novel candidates UHRF1BP1L, PTPRR, and PPFIA2. Investigative Ophthalmology & Visual Science 54(3), pp. 2076-2086. (10.1167/iovs.12-11102)
- Verhoeven, V. J. M. et al. 2013. Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia. Nature Genetics 45(3), pp. 314-318. (10.1038/ng.2554)
- Hocking, P. M. and Guggenheim, J. A. 2013. The chick as an animal model of eye disease. Drug Discovery Today: Disease Models 10(4), pp. e225-e230. (10.1016/j.ddmod.2014.02.003)
2012
- Guggenheim, J. A. et al. 2012. Time outdoors and physical activity as predictors of incident myopia in childhood: a prospective cohort study. Investigative Ophthalmology & Visual Science 53(6), pp. 2856-2865. (10.1167/iovs.11-9091)
- Wang, L., Povazay, B., Guggenheim, J. A., Drexler, W. and Hofer, B. 2012. Graphics processing unit based dispersion encoded full-range frequency domain OCT. Optical Coherence Tomography And Coherence Domain Optical Methods In Biomedicine XVI 8213, pp. 2B-2D. (10.1117/12.911247)
- Guggenheim, J. A. and Saw, S. 2012. Ocular epidemiology and genetics. Ophthalmic and Physiological Optics 32(1), pp. 1-2. (10.1111/j.1475-1313.2011.00890.x)
- Verhoeven, V. J. M. et al. 2012. Large scale international replication and meta-analysis study confirms association of the 15q14 locus with myopia. The CREAM consortium. Human Genetics, pp. n/a. (10.1007/s00439-012-1176-0)
2011
- Wang, L., Povazay, B., Chen, Y. P., Hofer, B., Drexler, W. and Guggenheim, J. A. 2011. Heritability of ocular component dimensions in mice phenotyped using depth-enhanced swept source optical coherence tomography. Experimental Eye Research 93(4), pp. 482-490. (10.1016/j.exer.2011.06.008)
- Chen, P. Y. P., Prashar, A., Erichsen, J. T., To, C., Hocking, P. M. and Guggenheim, J. A. 2011. Heritability of ocular component dimensions in chickens: genetic variants controlling susceptibility to experimentally induced myopia and pretreatment eye size are distinct. Investigative Ophthalmology and Visual Science 52(7), pp. 4012-4020. (10.1167/iovs.10-7045)
- Mackey, D. A. et al. 2011. Pediatric cataract, myopic astigmatism, familial exudative vitreoretinopathy and primary open-angle glaucoma co-segregating in a family. Molecular Vision 17, pp. 2118-2128.
- Chen, P. Y. et al. 2011. Selective breeding for susceptibility to myopia reveals a gene-environment interaction. Investigative Ophthalmology and Visual Science 52(7), pp. 4003-4011. (10.1167/iovs.10-7044)
2010
- Metlapally, R. et al. 2010. Genetic association of insulin-like growth factor-1 polymorphisms with high-grade myopia in an international family cohort. Investigative Ophthalmology and Visual Science 51(9), pp. 4476-4479. (10.1167/iovs.09-4912)
- Guggenheim, J. A., Zayats, T., Hammond, C. and Young, T. L. 2010. Lumican and muscarinic acetylcholine receptor 1 gene polymorphisms associated with high myopia [Correspondence]. Eye 24(8), pp. 1411-1412. (10.1038/eye.2010.55)
- Wang, L., Hofer, B., Chen, P. Y., Guggenheim, J. A., Drexler, W. and Považay, B. 2010. Highly reproducible swept-source, dispersion-encoded full-range biometry and imaging of the mouse eye. Journal of Biomedical Optics 15(4), article number: 46004. (10.1117/1.3463480)
- Chen, P. Y., Prashar, A., Hocking, P. M., Erichsen, J. T., To, C., Schaeffel, F. and Guggenheim, J. A. 2010. Sex, eye size, and the rate of myopic eye growth due to form deprivation in outbred white leghorn chickens. Investigative Ophthalmology and Visual Science 51(2), pp. 651-657. (10.1167/iovs.09-3826)
- Tattersall, R. J., Prashar, A., Singh, K. D., Tokarczuk, P. F., Erichsen, J. T., Hocking, P. M. and Guggenheim, J. A. 2010. Ex vivo magnetic resonance imaging of crystalline lens dimensions in chicken. Molecular Vision 16(18), pp. 144-153.
2009
- Metlapally, R. et al. 2009. COL1A1 and COL2A1 genes and myopia susceptibility: evidence of association and suggestive linkage to the COL2A1 locus. Investigative Ophthalmology and Visual Science 50(9), pp. 4080-4086. (10.1167/iovs.08-3346)
- Li, Y. et al. 2009. An international collaborative family-based whole-genome linkage scan for high-grade myopia. Investigative Ophthalmology & Visual Science 50(7), pp. 3116-3127. (10.1167/iovs.08-2781)
- Zayats, T., Young, T. L., Mackey, D. A., Malecaze, F., Calvas, P. and Guggenheim, J. A. 2009. Quality of DNA extracted from mouthwashes. PLoS ONE 4(7), article number: e6165. (10.1371/journal.pone.0006165)
- Prashar, A., Hocking, P. M., Erichsen, J. T., Fan, Q., Saw, S. M. and Guggenheim, J. A. 2009. Common determinants of body size and eye size in chickens from an advanced intercross line. Experimental Eye Research 89(1), pp. 42-48. (10.1016/j.exer.2009.02.008)
- McMahon, G., Zayats, T., Chen, Y., Prashar, A., Williams, C. and Guggenheim, J. A. 2009. Season of birth, daylight hours at birth, and high myopia. Ophthalmology 116(3), pp. 468-473. (10.1016/j.ophtha.2008.10.004)
- Goodall, N. et al. 2009. 3-Dimensional modelling of chick embryo eye development and growth using high resolution magnetic resonance imaging. Experimental Eye Research 89(4), pp. 511-521. (10.1016/j.exer.2009.05.014)
- Zayats, T., Yanovitch, T., Creer, R. C., McMahon, G., Li, Y., Young, T. L. and Guggenheim, J. A. 2009. Myocilin polymorphisms and high myopia in subjects of European origin. Molecular vision 15(20-23), pp. 213-222.
2008
- Guggenheim, J. A., Zayats, T., Prashar, A. and To, C. H. 2008. Axes of astigmatism in fellow eyes show mirror rather than direct symmetry. Ophthalmic And Physiological Optics 28(4), pp. 327-333. (10.1111/j.1475-1313.2008.00576.x)
- Zayats, T., Guggenheim, J. A., Hammond, C. J. and Young, T. L. 2008. Comment on 'A PAX6 gene polymorphism is associated with genetic predisposition to extreme myopia'. Eye 22(4), pp. 598-599. (10.1038/sj.eye.6703096)
2007
- Tse, D. Y., Lam, C. S., Guggenheim, J. A., Lam, C., Li, K., Liu, Q. and To, C. 2007. Simultaneous defocus integration during refractive development. Investigative Ophthalmology and Visual Science 48(12), pp. 5352-5359. (10.1167/iovs.07-0383)
- Lam, T. C., Li, K., Lo, S. C. L., Guggenheim, J. A. and To, C. H. 2007. Application of fluorescence difference gel electrophoresis technology in searching for protein biomarkers in chick myopia. Journal of Proteome Research 6(11), pp. 4135-4149. (10.1021/pr0701097)
- Prashar, A., Guggenheim, J. A., Erichsen, J. T., Hocking, P. M. and Morgan, J. E. 2007. Measurement of intraocular pressure (IOP) in chickens using a rebound tonometer: Quantitative evaluation of variance due to position inaccuracies. Experimental Eye Research 85(4), pp. 563-571. (10.1016/j.exer.2007.07.010)
- Albon, J. et al. 2007. Connective tissue structure of the tree shrew optic nerve and associated ageing changes. Investigative Ophthalmology and Visual Science 48(5), pp. 2134-2144. (10.1167/iovs.06-0084)
2005
- Qin, X., Margrain, T. H., To, C. H., Bromham, N. R. and Guggenheim, J. A. 2005. Anisometropia is independently associated with both spherical and cylindrical ametropia. Investigative Ophthalmology & Visual Science 46(11), pp. 4024-4031. (10.1167/iovs.05-0120)
- Guggenheim, J. A. and Farbrother, J. E. 2005. A deficit in visits to the optometrist by preschool age children: implications for vision screening. British Journal of Ophthalmology 89(2), pp. 246-247. (10.1136/bjo.2004.052027)
2004
- Davies, N., Akhtar, S., Turner, H. C., Candia, O. A., To, C. H. and Guggenheim, J. A. 2004. Chloride channel gene expression in the rabbit cornea. Molecular Vision 10(122-23), pp. 1028-1037.
- Farbrother, J. E., Kirov, G., Owen, M. J. and Guggenheim, J. A. 2004. Family aggregation of high myopia: estimation of the sibling recurrence risk ratio. Investigative Ophthalmology and Visual Science 45(9), pp. 2873-2878. (10.1167/iovs.03-1155)
- Farbrother, J. E., Kirov, G., Owen, M. J., Pong-Wong, R., Haley, C. S. and Guggenheim, J. A. 2004. Linkage analysis of the genetic loci for high myopia on chromosomes 18p, 12q and 17q in 51 UK families. Investigative Ophthalmology and Visual Science 45(9), pp. 2879-2885. (10.1167/iovs.03-1156)
2003
- Guggenheim, J. A., Hill, C. and Yam, T. 2003. Myopia, genetics, and ambient lighting at night in a UK sample. British Journal of Ophthalmology 87(5), pp. 580-582. (10.1136/bjo.87.5.580)
- Farbrother, J. E., Kirov, G., Owen, M. J. and Guggenheim, J. A. 2003. Linkage analysis of 18p, 12q and 17q high myopia loci in 51 UK families. Investigative ophthalmology & visual science 44(E-Abst)
2002
- Guggenheim, J. A., Erichsen, J. T., Hocking, P. M., Wright, N. F. and Black, R. 2002. Similar genetic susceptibility to form-deprivation myopia in three strains of chicken. Vision Research 42(25), pp. 2747-2756. (10.1016/S0042-6989(02)00383-8)
- Farbrother, J. E., Farrow, E., Black, R., Fletcher, H. and Guggenheim, J. A. 2002. Genetic epidemiology of high myopia: prevalence of myopia in siblings and parents of high myopes. Investigative Ophthalmology and Visual Science 43(E-Abst)
2001
- Davies, N., Guggenheim, J. A. and Wigham, C. 2001. PCR-based investigations of chloride channels in rabbit corneal endothelium. Investigative Ophthalmology & Visual Science 42(4), pp. S275-S275.
Articles
- Guggenheim, J. A. and Walline, J. J. 2023. Identifying non-responders to treatments for myopia. Ophthalmic and Physiological Optics (10.1111/opo.13162)
- Clark, R. et al. 2023. A new polygenic score for refractive error improves detection of children at risk of high myopia but not the prediction of those at risk of myopic macular degeneration. EBioMedicine, article number: 104551. (10.1016/j.ebiom.2023.104551)
- Musolf, A. M. et al. 2023. Rare variant analyses across multiethnic cohorts identify novel genes for refractive error. Communications Biology 6(1), article number: 6. (10.1038/s42003-022-04323-7)
- Guggenheim, J. A., Clark, R., Zayats, T., Williams, C. and UK Biobank Eye and Vision Consortium, . 2022. Assessing the contribution of genetic nurture to refractive error. European Journal of Human Genetics 30, pp. 1226-1232. (10.1038/s41431-022-01126-6)
- Clark, R., Pozarickij, A., Hysi, P. G., Ohno-Matsui, K., Williams, C., Guggenheim, J. A. and UK Biobank Eye and Vision Consortium, . 2022. Education interacts with genetic variants near GJD2, RBFOX1, LAMA2, KCNQ5 and LRRC4C to confer susceptibility to myopia. PLoS Genetics 18(11), article number: e1010478. (10.1371/journal.pgen.1010478)
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- Guggenheim, J. A. et al. 2022. Whole exome sequence analysis in 51?624 participants identifies novel genes and variants associated with refractive error and myopia. Human Molecular Genetics 31(11), pp. 1909-1919. (10.1093/hmg/ddac004)
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- Plotnikov, D., Pärssinen, O., Williams, C., Atan, D. and Guggenheim, J. A. 2022. Commonly occurring genetic polymorphisms with a major impact on the risk of nonsyndromic strabismus: replication in a sample from Finland. Journal of AAPOS 26(1), pp. 12.E1-12.E6. (10.1016/j.jaapos.2021.07.015)
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- Plotnikov, D., Sheehan, N. A., Williams, C., Atan, D. and Guggenheim, J. A. 2021. Hyperopia is not causally associated with a major deficit in educational attainment. Translational Vision Science & Technology 10(12), article number: 34. (10.1167/tvst.10.12.34)
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- Guggenheim, J. A. et al. 2012. Time outdoors and physical activity as predictors of incident myopia in childhood: a prospective cohort study. Investigative Ophthalmology & Visual Science 53(6), pp. 2856-2865. (10.1167/iovs.11-9091)
- Wang, L., Povazay, B., Guggenheim, J. A., Drexler, W. and Hofer, B. 2012. Graphics processing unit based dispersion encoded full-range frequency domain OCT. Optical Coherence Tomography And Coherence Domain Optical Methods In Biomedicine XVI 8213, pp. 2B-2D. (10.1117/12.911247)
- Guggenheim, J. A. and Saw, S. 2012. Ocular epidemiology and genetics. Ophthalmic and Physiological Optics 32(1), pp. 1-2. (10.1111/j.1475-1313.2011.00890.x)
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- Wang, L., Povazay, B., Chen, Y. P., Hofer, B., Drexler, W. and Guggenheim, J. A. 2011. Heritability of ocular component dimensions in mice phenotyped using depth-enhanced swept source optical coherence tomography. Experimental Eye Research 93(4), pp. 482-490. (10.1016/j.exer.2011.06.008)
- Chen, P. Y. P., Prashar, A., Erichsen, J. T., To, C., Hocking, P. M. and Guggenheim, J. A. 2011. Heritability of ocular component dimensions in chickens: genetic variants controlling susceptibility to experimentally induced myopia and pretreatment eye size are distinct. Investigative Ophthalmology and Visual Science 52(7), pp. 4012-4020. (10.1167/iovs.10-7045)
- Mackey, D. A. et al. 2011. Pediatric cataract, myopic astigmatism, familial exudative vitreoretinopathy and primary open-angle glaucoma co-segregating in a family. Molecular Vision 17, pp. 2118-2128.
- Chen, P. Y. et al. 2011. Selective breeding for susceptibility to myopia reveals a gene-environment interaction. Investigative Ophthalmology and Visual Science 52(7), pp. 4003-4011. (10.1167/iovs.10-7044)
- Metlapally, R. et al. 2010. Genetic association of insulin-like growth factor-1 polymorphisms with high-grade myopia in an international family cohort. Investigative Ophthalmology and Visual Science 51(9), pp. 4476-4479. (10.1167/iovs.09-4912)
- Guggenheim, J. A., Zayats, T., Hammond, C. and Young, T. L. 2010. Lumican and muscarinic acetylcholine receptor 1 gene polymorphisms associated with high myopia [Correspondence]. Eye 24(8), pp. 1411-1412. (10.1038/eye.2010.55)
- Wang, L., Hofer, B., Chen, P. Y., Guggenheim, J. A., Drexler, W. and Považay, B. 2010. Highly reproducible swept-source, dispersion-encoded full-range biometry and imaging of the mouse eye. Journal of Biomedical Optics 15(4), article number: 46004. (10.1117/1.3463480)
- Chen, P. Y., Prashar, A., Hocking, P. M., Erichsen, J. T., To, C., Schaeffel, F. and Guggenheim, J. A. 2010. Sex, eye size, and the rate of myopic eye growth due to form deprivation in outbred white leghorn chickens. Investigative Ophthalmology and Visual Science 51(2), pp. 651-657. (10.1167/iovs.09-3826)
- Tattersall, R. J., Prashar, A., Singh, K. D., Tokarczuk, P. F., Erichsen, J. T., Hocking, P. M. and Guggenheim, J. A. 2010. Ex vivo magnetic resonance imaging of crystalline lens dimensions in chicken. Molecular Vision 16(18), pp. 144-153.
- Metlapally, R. et al. 2009. COL1A1 and COL2A1 genes and myopia susceptibility: evidence of association and suggestive linkage to the COL2A1 locus. Investigative Ophthalmology and Visual Science 50(9), pp. 4080-4086. (10.1167/iovs.08-3346)
- Li, Y. et al. 2009. An international collaborative family-based whole-genome linkage scan for high-grade myopia. Investigative Ophthalmology & Visual Science 50(7), pp. 3116-3127. (10.1167/iovs.08-2781)
- Zayats, T., Young, T. L., Mackey, D. A., Malecaze, F., Calvas, P. and Guggenheim, J. A. 2009. Quality of DNA extracted from mouthwashes. PLoS ONE 4(7), article number: e6165. (10.1371/journal.pone.0006165)
- Prashar, A., Hocking, P. M., Erichsen, J. T., Fan, Q., Saw, S. M. and Guggenheim, J. A. 2009. Common determinants of body size and eye size in chickens from an advanced intercross line. Experimental Eye Research 89(1), pp. 42-48. (10.1016/j.exer.2009.02.008)
- McMahon, G., Zayats, T., Chen, Y., Prashar, A., Williams, C. and Guggenheim, J. A. 2009. Season of birth, daylight hours at birth, and high myopia. Ophthalmology 116(3), pp. 468-473. (10.1016/j.ophtha.2008.10.004)
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- Guggenheim, J. A., Zayats, T., Prashar, A. and To, C. H. 2008. Axes of astigmatism in fellow eyes show mirror rather than direct symmetry. Ophthalmic And Physiological Optics 28(4), pp. 327-333. (10.1111/j.1475-1313.2008.00576.x)
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- Guggenheim, J. A. and Farbrother, J. E. 2005. A deficit in visits to the optometrist by preschool age children: implications for vision screening. British Journal of Ophthalmology 89(2), pp. 246-247. (10.1136/bjo.2004.052027)
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- Farbrother, J. E., Kirov, G., Owen, M. J. and Guggenheim, J. A. 2004. Family aggregation of high myopia: estimation of the sibling recurrence risk ratio. Investigative Ophthalmology and Visual Science 45(9), pp. 2873-2878. (10.1167/iovs.03-1155)
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- Davies, N., Guggenheim, J. A. and Wigham, C. 2001. PCR-based investigations of chloride channels in rabbit corneal endothelium. Investigative Ophthalmology & Visual Science 42(4), pp. S275-S275.
Ymchwil
Research Topics and Related Projects
Genetic and environmental associations with refractive error in the Avon Longitudinal Study of Parents and Children (ALSPAC).
Collaborators: Cathy Williams, Beate St Pourcain, Kate Northstone.
The ALSPAC 'Children of the 90s' study is following the health and well-being of a group of UK children born in the early 1990's. The participants have taken part in a range of vision tests. In collaboration with researchers at the University of Bristol, I am trying to trace the causes of myopia development in this unique cohort.
The Consortium for Refractive Error and Myopia (CREAM)
Collaborators: More than 30 teams of researchers from across the world.
The CREAM consortium carry out collaborative projects designed to identify genetic risk factors for refractive errors. Projects are co-ordinated by working groups, involving teams of researchers with expertise in genetics, biostatistics and ophthalmology. I co-Chair of the Astigmatism Working Group (with Joan Bailey-Wilson, NIH/NHGRI, USA) and the Longitudinal Studies Working Group (with Cathy Williams, Bristol, UK).
Gene–Environment Interactions in Myopia
This project aims to discover gene variants that confer susceptibility to visually-induced myopia in an avian model.
Funding
JA Guggenheim(PI), PM Hocking, SP Yip, MR Frost, C Williams, HK$952,636, 'Gene–Environment Interactions in Myopia', GRF Project grant (PolyU 5610/13M) Hong Kong University Grants Council (UGC), 2014 – 2017.
Research Team
Ms Rupal Shah, Postgraduate Student, 'Discovery of genetic determinants for refractive error', Cardiff University, 2014-2017
Research Collaborators
Dr Cathy Williams, Dr Beaté St Pourcain, Dr Kate Northstone, School of Social and Community Medicine, University of Bristol, 'Genetic and environmental associations with refractive error in the Avon Longitudinal Study of Parents and Children (ALSPAC)'.
Dr Paul Hocking, The Roslin Institute and Royal (Dick) School of Veterinary Science, University of Edinburgh, 'Gene–Environment Interactions in Myopia'.
Prof. Shea Ping Yip, Dr Chea-su Kee, Health Technology & Informatics, Hong Kong Polytechnic University, 'Gene–Environment Interactions in Myopia'.
Dr Michael R. Frost, School of Optometry, University of Alabama at Birmingham, 'Gene–Environment Interactions in Myopia'.
The UK Biobank Eye and Vision Consortium
Current Postgraduate Student (with degree and anticipated completion year)
Rupal Shah PhD 2017
Yvonne Huang Yu MD PhD 2018 (Hong Kong)
Jeremy Kang Byung Soo PhD 2018 (Hong Kong)
Past Postgraduate Student (with degree and year submitted)
Michael Frost PhD 2000
Natalie Davies PhD 2002
Jane Farbrother PhD 2003
Carolina Chan PhD 2005
Rosalind Creer PhD 2006
Lam Chuen PhD 2007
Tetyana Zayats MD PhD 2009
Yen-Po (Paul) Chen MD PhD 2010
George McMahon PhD 2010
Chris Dillingham PhD 2012
Addysgu
Currently I supervise final year students in the Cardiff University Eye Clinic.
Bywgraffiad
Educational and Professional Qualifications
1985-1988: BSc (Hons) Optometry, UWIST (Cardiff University)
1988-1989: PQE (Optometry) , British College of Optometrists
1989-1992: PhD, Cardiff University, UK
Anrhydeddau a dyfarniadau
2012/2013 College of Optometrists, Biennial Arthur Bennett Prize for Outstanding Research Anywhere in the World
Aelodaethau proffesiynol
2015 - present: Local Exhaust Ventilation Systems Working Group, Cardiff University
2013 - present: Editorial Board Member for Investigative Ophthalmology and Visual Science (IOVS)
2013 - present: Editorial Board Member, Biomedical Research International (BMRI)
2012 - present: Associate Editor, Ophthalmic & Physiological Optics (OPO)
2012 - present: Editorial Board Member, Translational Vision Science & Technology (TVST)
Safleoedd academaidd blaenorol
2013-2015 Assoc. Prof. & Assoc. Head, School of Optometry, Hong Kong Polytechnic University
2012-2013 Assoc. Prof., School of Optometry, Hong Kong Polytechnic University
2011-2012 Reader, School of Optometry & Vision Sciences, Cardiff University, UK.
2006-2011 Senior Lecturer, School of Optometry & Vision Sciences, Cardiff University, UK.
1994-2006 Lecturer, School of Optometry & Vision Sciences, Cardiff University, UK.
1992-1994 Wellcome Trust RA, Cardiff University, UK.
Pwyllgorau ac adolygu
2015 - present: Research Committee
2015 - present: Research Audit Ethics committee
2015 - present: Safety, Health and Environment committee
