Professor, Developmental Biology
Department Ophthalmology and Visual Sciences
The University of British Columbia Eye Care Centre
2550 Willow Street
Vancouver, BC V5Z 3N9
Canada
phone: 6048755529
fax: 6048754663
Previous Appointments

2009-2014 | Associate Professor
University of British Columbia, Vancouver, Canada

2005-2009 | Senior Lecturer
Imperial College London, London UK

1997-2004 | Lecturer
Imperial College London, London UK

1992-1996 | Wellcome Trust Research Fellow, Institute of Ophthalmology
University College London, London, UK

1989-1991 | Visiting Post-doctoral Fellow
Jules Stein Eye Institute, UCLA, Los Angeles, USA

Research

Tissue fusion during development

Tissue fusion is a recurring event in mammalian embryology, playing a fundamental role for instance in the development of the neural tube, palate and the optic fissure. Most epithelial fusion events involve alignment of two sheets of tissue, such that they can be zippered together to generate a continuous layer. Molecular players are being identified for each step during tissue fusion providing a framework for understanding the regulation of this process at the molecular level. Furthermore, genetic studies have shown that gene defects causing failure of fusion in one location is often associated with failure of fusion in multiple tissues, thereby implying a subset of common mediators of fusion. We are studying optic fissure closure as a model system for epithelial fusion. Fusion defects lead to ocular coloboma which can damage the uveal tract, retina or optic nerve.

Mutation of PAX2 in humans and zebrafish eye cause ocular coloboma due to failure of optic fissure closure. Expression of Rip1 demonstrates activation of the necroptosis cell death pathway in the mutant zebrafish eye which is inhibited by a small drug molecule Necrostatin-1 (nec-1). Nec-1 inhibits necroptosis and allows closure of the optic fissure ( Viringipurampeer IA et al, 2012. Hum Mol Genet . 21:2357-2369 ).

Mutation of PAX2 in humans and zebrafish eye cause ocular coloboma due to failure of optic fissure closure. Expression of Rip1 demonstrates activation of the necroptosis cell death pathway in the mutant zebrafish eye which is inhibited by a small drug molecule Necrostatin-1 (nec-1). Nec-1 inhibits necroptosis and allows closure of the optic fissure. (Viringipurampeer IA et al, 2012. Hum Mol Genet . 21:2357-2369).

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

Aniridia

Aniridia is a pan-ocular condition characterized by an under-development of the iris tissue (hypoplasia) associated with cataract, Peters’ anomaly, corneal disease and foveal hypoplasia. The majority of cases are caused by heterozygous genetic abnormalities affecting the PAX6 gene. We are interested in determining the precise signaling pathways that regulate normal iris development and why it goes wrong in aniridia. The critical questions to be addressed are: (i) what are the genes downstream of PAX6 that are crucial to iris development; (ii) what genes control normal foveal development.

The normal foveal depression and thickening of the outer nuclear layer (ONL) in the adult eye is absent in most cases of aniridia (A). The foveal depression is present at birth however, migration of cones to the foveal region is not complete until the 4-5 year of age (B). The absence of a developed foveal region of the retina results in poor visual acuity and colour vision deficits in patients with aniridia ( Gregory-Evans K et al, 2011. Can J Ophthalmol . 46:337-344 ).

The normal foveal depression and thickening of the outer nuclear layer (ONL) in the adult eye is absent in most cases of aniridia (A). The foveal depression is present at birth however, migration of cones to the foveal region is not complete until the 4-5 year of age (B). The absence of a developed foveal region of the retina results in poor visual acuity and colour vision deficits in patients with aniridia ( Gregory-Evans K et al, 2011. Can J Ophthalmol . 46:337-344 ).

Selected Publications
  1.  Gregory-Evans CY, Wang X, Wasan K, Zhao J, Metcalfe AL, Gregory-Evans K. Postnatal manipulation of Pax6 dosage reverses congenital tissue malformation defects. J Clin Invest. 2014;124: 111-116.
  2. Viringipurampeer IA, Shan X, Gregory-Evans K, Zhang JP, Mohammadi Z, Gregory-Evans CY. Rip3 knockdown rescues photoreceptor cell death in blind pde6c zebrafish. Cell Death Differ.  2014:21: 665-675.
  3. Viringipurampeer IA, Ferreira T, DeMaria S, Moosajee M, Gregory-Evans K, Ngai J,Gregory-Evans CY.Pax2 regulates a Fadd-dependent cellular switch that drives tissue fusion during eye development. Hum Mol Genet. 2012;21:2357-2369.
  4. Gregory-Evans CY, Moosajee M, Shan X, Gregory-Evans K. Gene-specific differential response to anti-apoptotic therapies in zebrafish models of ocular coloboma. Mol Vis. 2011;17: 1473-1484.
  5. Gregory-Evans K, Cheong-Leen R, George SM, Xie J, Moosajee M, Colapinto P, Gregory-Evans CY. Non-invasive anterior segment and posterior segment optical coherence tomography and phenotypic characterization of aniridia. Can J Ophthalmol . 2011;46:337-44.
  6. Xu, XL, Fang Y, Lee TC, Forrest D, Gregory-Evans CY , Almeida D, Liu A, Jhanwar SC, Abramson DH, and Cobrinik D. Retinoblastoma has the properties of a cone precursor tumor and depends upon cone-specific MDM2 signaling. Cell 2009;137:1018-31.
  7. Moosajee M, Gregory-Evans K, Ellis CD, Seabra MC, Gregory-Evans CY. Translational bypass of nonsense mutations in zebrafish rep1 , pax2.1 and lamb1 highlights a viable therapeutic option for untreatable genetic eye disease. Hum Mol Genet. 2008;17:3987-4000.
  8. Gregory-Evans CY , Vieira H, Dalton R, Adams GGW, Salt A and Gregory-Evans K. Ocular coloboma and high myopia with Hirschsprung disease associated with a novel ZFHX1B missense mutation and trisomy 21. Am J Med Genet. 2004;131A:86-90.
  9. Bibb LC, Holt JKL, Tarttelin EE, Hodges MD, Gregory-Evans K, Lucas RJ, Sowden JC, Gregory-Evans CY . Temporal and spatial expression patterns of the CRX gene and its downstream targets. Critical differences during human and mouse eye development. Hum Mol Genet. 2001;10:1571-1579.
  10. Freund CL, Gregory-Evans CY, Furukawa T, Papaioannou M, Looser J, Ploder L, Bellingham J, Ng D, Herbrick J-AS, Duncan A, Scherer SW, Tsui L-C, Loutradis-Anagnostou A, Cepko CL, Jacobson SG, Bhattacharya SS, McInnes RR. Cone-rod dystrophy due to mutations in a novel photoreceptor-specific homeobox gene ( CRX ) required for maintenance of the mammalian photoreceptor. Cell 1997;91:543-553.
Research Funding

1998 – 2015

Foundation Fighting Blindness (Canada)                                                                                                                                                                                                                                                                                                                                           Vision for Tomorrow Foundation (USA)                                                                                                                                                                                                                                                                                                                                        Canadian Institute of Health Research (Canada)
Sharon Stewart Aniridia Trust (Canada)
The Wellcome Trust (UK)
Birth Defects Foundation (UK)
Medical Research Council (UK)
Fight for Sight (UK)
Funding for Science and Technology (Portugal)
British Retinitis Pigmentosa Society (UK)
St. Mary’s Paddington Charitable Trust (UK)

Original research publications

Yanai A, Laver CR, Gregory-Evans CY, Liu RR, Gregory-Evans K. Enhanced functional integration of human photoreceptor precursors into human and rodent retina in an ex vivo retinal explant model system. Tissue Eng Part A 2015;21:1763-1771.

Viringipurampeer IA, Shan X, Gregory-Evans K, Zhang JP, Mohammadi Z, Gregory-Evans CY. Rip3 knockdown rescues photoreceptor cell death in blind pde6c zebrafish. Cell Death Differ.  2014;21:665-675.

Gregory-Evans CY, Wang X, Wasan K, Zhao J, Metcalfe AL, Gregory-Evans K. Postnatal manipulation of Pax6 dosage reverses congenital tissue malformation defects. J Clin Invest. 2014;124:111-116.

Filges I, Terashima T, Nosova E, Bruder E, Tercanli S, Townsend K, Gibson WT, Setsu T, Röthlisberger B, Heinimann K, Gregory-Evans C, Wasserman WW, Sakisaka T, Miny P, Friedman JM. Mutations in KIF14 cause an autosomal recessive lethal ciliopathy phenotype. Clin Genet. 2014;86:220-228

Viringipurampeer IA, Bashar AE, Gregory-Evans CY, Moritz OL, Gregory-Evans K. Targeting inflammation in emerging therapies for genetic retinal disease. Int J Inflamm. 2013:581751.

Berry V, Gregory-Evans C, Emmett W, Waseem N, Raby J, Prescott D, Moore AT, Bhattacharya SS. Wolfram gene (WFS1) mutation causes autosomal dominant congenital nuclear cataract in humans. Eur J Hum Genet.  2013;22:3894-3905.

Yanai A, Laver C, Joe AW, Viringipurampeer IA, Wang X, Gregory-Evans CY,  Gregory-Evans K. Differentiation of human embryonic stem cells using size-controlled embryoid bodies and negative cell selection in the production of photoreceptor precursor cells. Tissue Engineering Part C. 2013;19:755-764.

Bashar AE, Metcalfe A, Yanai A, Laver C, Hafeli U, Gregory-Evans CY, Moritz OL, Matsubara JA, Gregory-Evans K. Influence of Iron Oxide Nanoparticles on Innate and Genetically Modified Secretion Profiles of Mesenchymal Stem Cells. IEEE Trans Magn 2013;49:389-393.

Yanai A, Häfeli UO, Metcalfe AL, Soema P, Addo L, Gregory-Evans CY, Po K, Shan X, Moritz OL, Gregory-Evans K. Focused magnetic stem cell targeting to the retina using superparamagnetic iron oxide nanoparticles. Cell Transplant. 2012;21:1137-1148.

Viringipurampeer IA, Ferreira T, DeMaria S, Moosajee M, Gregory-Evans K, Ngai J, Gregory-Evans CY. Pax2 regulates a Fadd-dependent cellular switch that drives tissue fusion during eye development. Hum Mol Genet. 2012;21:2357-2369.

Schmouth, J-F., Banks, K.G., Mathelier, A., Gregory-Evans, C.Y., Castellarin, M., Holt, R., Gregory-Evans, K., Wasserman, W.W. and Simpson EM. Vision restored and brain abnormalities ameliorated by single-copy knock-in of human NR2E1 in null mice. Mol Cell Biol. 2012;32:1296-311.

McKeone R, Vieira H, Gregory-Evans K, Gregory-Evans CY, Denny P. Foxf2: a novel locus for iris hypoplasia adjacent to Foxc1. PLoS One 2011;6:e25489.

Gregory-Evans K, Cheong-Leen R, George S, Xie J, Moosajee M, Gregory-Evans CY. Non-invasive anterior segment and posterior segment optical coherence tomography and phenotypic characterization of aniridia. Can J Ophthalmol. 2011;46:337-344.

Gregory-Evans CY, Moosajee M, Shan X, Gregory-Evans K. Gene-specific differential response to anti-apoptotic therapies in zebrafish models of ocular coloboma. Mol Vis. 2011;17: 1473-1484.

Gregory-Evans K, Po K, Francis Chang F, Gregory-Evans CY. Pharmacological enhancement of ex vivo gene therapy neuroprotection in a rodent model of retinal degeneration. Ophthal Genet. 2012;47:32-38.

Moosajee M, Tulloch M, Baron RA, Gregory-Evans CY, Pereira-Leal JB and Seabra MC. Single choroideremia gene in non-mammalian vertebrates explains early embryonic lethality of a zebrafish model of choroideremia. Invest Ophthalmol Vis Sci. 2009;50:3009-16.

Xu, XL, Fang Y, Lee TC, Forrest D, Gregory-Evans CY, Almeida D, Liu A, Jhanwar SC, Abramson DH, and Cobrinik D. Retinoblastoma has the properties of a cone precursor tumor and depends upon cone-specific MDM2 signaling. Cell 2009;137:1018-31.

Gregory-Evans K, Chang F, Hodges MD and Gregory-Evans CY. Ex vivo gene therapy with intravitreal injection of GDNF-secreting mouse embryonic stem cells in a rat model of retinal degeneration. Mol Vis. 2009;15:962-973.

Moosajee M, Gregory-Evans K, Ellis CD, Seabra MC and Gregory-Evans CY. Translational bypass of nonsense mutations in zebrafish rep1, pax2.1 and lamb1 highlights a viable therapeutic option for untreatable genetic eye disease. Hum Mol Genet. 2008;17:3987-4000.

Guerin K, Gregory-Evans CY, Hodges MD, Moosajee M, Mackay DS, Gregory-Evans K and Flannery JG. Systemic aminoglycoside treatment in rodent models of retinitis pigmentosa. Exp Eye Res. 2008;87:197-207.

Gregory-Evans CY, Moosajee M, Mackay DS, Game L, Vargesson N, Bloch-Zupan A, Ruschendorf F, Santos-Pinto L, Wackens G and Gregory-Evans K. SNP genome scanning localises microdeletions of chromosome 11q13 in oto-dental syndrome implicating FGF3 in dental and inner ear disease and FADD in ocular coloboma. Hum Mol Genet. 2007;16:2482-2493.

Ignatov A, Robert J, Gregory-Evans C and Schaller HC. RANTES stimulates Ca(2+) mobilization and inositol trisphosphate (IP(3)) formation in cells transfected with G protein-coupled receptor 75. Br J Pharmacol. 2006;149:490-497.

Gregory-Evans CY, Vieira H, Dalton R, Adams GGW, Salt A and Gregory-Evans K. Ocular coloboma and high myopia with Hirschsprung disease associated with a novel ZFHX1B missense mutation and trisomy 21. Am J Med Genet. 2004;131A:86-90.

Atan D, Gregory-Evans CY, Louis D and Downes SM. Sorsby fundus dystrophy presenting with choroidal neovascularisation showing good response to steroid treatment. Br J Ophthalmol. 2004;88:440-441.

Toomes C, Bottomley HM, Jackson RM, Towns KV, Scott S, Mackey DA, Craig JE, Jiang L, Yang Z, Trembath R, Woodruff G, Gregory-Evans CY, Gregory-Evans K, Parker MJ, Black GC, Downey LM, Zhang K and Inglehearn CF. Mutations in LRP5 or FZD4 underlie the common familial exudative vitreoretinopathy locus on chromosome 11q. Am J Hum Genet. 2004;74:721-730.

Tarttelin EE, Bellingham J, Bibb LC, Foster RG, Hankins MW, Gregory-Evans K, Gregory-Evans CY, Wells DJ and Lucas RJ. Expression of opsin genes early in ocular development of humans and mice. Exp Eye Res. 2003;76: 393-396.

Wong SC, Fong KC, Lee N, Gregory-Evans K and Gregory-Evans CY. Successful photodynamic therapy for subretinal neovascularisation due to Sorsby’s fundus dystrophy: 1 year follow up. Br J Ophthalmol. 2003;87:796-797.

Bellingham J, Gregory-Evans K, Fox MF and Gregory-Evans CY. Gene structure and tissue expression of human selenoprotein W, SEPW1, and identification of a retroprocessed pseudogene, SEPW1P. Biochim Biophys Acta. 2003;1627:140-146.

Blackburn J, Tarttelin EE, Gregory-Evans CY, Moosajee M and Gregory-Evans K. Transcriptional regulation and expression of the dominant drusen gene FBLN3 (EFEMP1) in mammalian retina. Invest Ophthalmol Vis Sci. 2003;44:4613-4621.

Vieira H, Gregory-Evans K, Lim N, Brookes JL, Brueton LA and Gregory-Evans CY. First genomic localisation of oculo-oto-dental syndrome with linkage to chromosome 20q13.1. Invest Ophthalmol Vis Sci. 2002;43: 2540-2545.

Hodges MD, Vieira H, Gregory-Evans K and Gregory-Evans CY. Characterisation of the genomic and transcriptional structure of the CRX gene: substantial differences between human and mouse. Genomics 2002;80:531-542.

Bibb LC, Holt JKL, Tarttelin EE, Hodges MD, Gregory-Evans K, Lucas RJ, Sowden JC and Gregory-Evans CY. Temporal and spatial expression patterns of the CRX gene and its downstream targets. Critical differences during human and mouse eye development. Hum Mol Genet. 2001;10:1571-1579.

Talks J, Ebenezer N, Hykin P, Adams G, Yang TF, Schullenberg WE, Gregory-Evans K and Gregory-Evans CY. De novo mutations in the 5’ regulatory region of the Norrie disease gene in retinopathy of prematurity. J Med Genet. 2001;38: e46.

Ramalho JS, Tolmachova T, Hume AN, McGuigan A, Gregory-Evans CY, Huxley C and Seabra MC. Chromosomal mapping, gene structure and characterisation of the human murine RAB27B gene. BMC Genetics 2001;2, 2.

Tarttelin EE, Gregory-Evans K, Weleber R, Klein M, Bird AC and Gregory-Evans CY. Molecular genetic heterogeneity in autosomal dominant drusen. J Med Genet. 2001;38:381-384.

Murray S, Halford S, Ebenezer ND, Gregory-Evans CY and Bhattacharya SS. Assignment of BCL2L11 to human chromosome band 2p13 with somatic cell radiation hybrids. Cytogenet. Cell Genet. 2001;92:353.

Gregory-Evans K, Kelsell RE, Gregory-Evans CY, Downes SM, Fitzke FW, Holder GE, Simunovic M, Mollon JD, Taylor R, Hunt DM, Bird AC and Moore AT. Autosomal dominant cone-rod retinal dystrophy (CORD6) from heterozygous mutation of GUCY2D, which encodes retinal guanylate cyclase. Ophthalmology 2000;107:55-61.

Kermani S, Gregory-Evans K, Tarttelin EE, Bellingham J, Plant C, Bird AC, Fox M, Bhattacharya SS and Gregory-Evans CY. Refined genetic and physical positioning of the gene for Doyne honeycomb retinal dystrophy (DHRD). Hum Genet. 1999;104:77-82.

Tarttelin EE, Kirschner LS, Bellingham J, Baffi J, Taymans SE, Gregory-Evans K, Csaky K, Stratakis CA and Gregory-Evans CY. Cloning and characterization of a novel orphan G-protein-coupled receptor localized to human chromosome 2p16. Biochem Biophys Res Commun. 1999;260:174-180.

Bellingham J, Gregory-Evans K and Gregory-Evans CY. A polymorphic dinucleotide repeat in the 5’ flanking region of the human interleukin 11 (IL11) gene. Immunogenet. 1998;47:499-500.

Papaioannou M, Bessant DAR, Payne AM, Rougas C, Bellingham J, Loutradis-Anagnostou A, Gregory C, Balassopoulou A, and Bhattacharya SS. A new family of Greek origin maps to the CRD locus for autosomal dominant cone-rod dystrophy on 19q. J Med Genet. 1998;34:429-431.

Bellingham J, Gregory-Evans K and Gregory-Evans CY. Microsatellite markers for the cone-rod retinal dystrophy gene, CRX, on 19q13.3. J Med Genet. 1998;35:527.

Bellingham J, Gregory-Evans K and Gregory-Evans CY. Mapping of human interferon regulatory factor 3 (IRF3) to chromosome 19q13.3-13.4 by an intragenic polymorphic marker. Ann Hum Genet. 1998;62:233-236.

Kelsell RE, Gregory-Evans K, Gregory-Evans CY, Holder GE, Jay MR, Weber BHF, Moore AT, Bird AC and Hunt DM. Localisation of a gene for a dominant cone-rod dystrophy (CORD7) to chromosome 6q. Am J Hum Genet. 1998;63:274-279.

Reichel MB, Kelsell RE, Fan J, Gregory CY, Evans K, Moore AT, Hunt DM Fitzke FW and Bird AC. Clinical appearance, electrodiagnosis and psychophysics in a British North Carolina macular dystrophy family linked to chromosome 6q. Br J Ophthalmol. 1998;82:1162-1168.

Gregory-Evans K, Fariss RN, Possin DE, Gregory-Evans CY and Milam AH. Abnormal cone synapses in cone-rod dystrophy. Ophthalmology 1998;105: 2306-2312.

Bellingham J, Gregory-Evans K and Gregory-Evans CY. Cloning and tissue expression of a novel human carbonic anhydrase-related protein, CARP-2, mapping to chromosome 19q13.3. Biochem Biophys Res Commun. 1998;253:364-367.

Freund CL, Gregory-Evans CY, Furukawa T, Papaioannou M, Looser J, Ploder L, Bellingham J, Ng D, Herbrick J-AS, Duncan A, Scherer SW, Tsui L-C, Loutradis-Anagnostou A, Cepko CL, Jacobson SG, Bhattacharya SS, and McInnes RR. Cone-rod dystrophy due to mutations in a novel photoreceptor-specific homeobox gene (CRX) required for maintenance of the mammalian photoreceptor. Cell 1997;91:543-553.

Kelsell RE, Evans K, Gregory CY, Moore AT, Bird AC and Hunt DM. Localisation of a gene for dominant cone-rod dystrophy (CORD6) to chromosome 17p. Hum Mol Genet. 1997;6:597-600.

Inglehearn CF and Gregory CY. Meiotic drive at the myotonic dystrophy and cone-rod dystrophy loci on chromosome 19q13.3. Am J Hum Genet. 1997;60:1562-1563.

Evans K, Gregory CY, Wijesuriya SD, Kermani S, Jay MR, Plant C and Bird AC. Assessment of the phenotypic range seen in Doyne honeycomb retinal dystrophy. Arch Ophthalmol. 1997;115:904-910.

Felbor U, Benkwitz C, Klein ML, Greenberg J, Gregory CY and Weber BHF. Sorsby fundus dystrophy: re-evaluation of a variable expressivity in patients carrying a TIMP3 founder mutation. Arch Ophthalmol. 1997;115:1569-1571.

Wijesuriya SD, Evans K, Jay MR, Davison C, Weber BHF, Bird AC, Bhattacharya SS and Gregory CY. Sorsby’s fundus dystrophy in the British Isles: demonstration of a striking founder effect by microsatellite generated haplotypes. Genome Res. 1996;6:92-101.

Gregory CY, Evans K, Wijesuriya SD, Kermani S, Jay MR, Plant C, Cox N, Bird AC and Bhattacharya SS. The gene responsible for autosomal dominant Doyne’s honeycomb retinal dystrophy (DHRD) maps to chromosome 2p16. Hum Mol Genet. 1996;5:1055-1059.

Jay MR, Plant C, Evans K and Gregory CY. Doyne’s revisited. Eye 1996;10:469-472.

Hall MO, Burgess BL, Abrams TA, Ershov AV and Gregory CY. Further studies on the identification of the phagocytosis receptor of rat retinal pigment epithelial cells. Exp Eye Res. 1996;63:255-264.

Evans K, Gregory CY, Fryer A, Whittaker J, Duvall-Young J, Bird AC, Jay MR and Bhattacharya SS. The role of molecular genetics in the prenatal diagnosis of retinal dystrophies. Eye 1995;9:24-28.

Holz FG, Evans K, Gregory CY, Bhattacharya SS and Bird AC. Autosomal dominant macular dystrophy simulating North Carolina macular dystrophy. Arch Ophthalmol. 1995;113:178-184.

Gregory CY, Evans K and Bhattacharya SS. Genetic refinement of the chromosome 5q lattice corneal dystrophy type I locus to within a two centimorgan interval. J Med Genet. 1995;32: 224-226.

Gregory CY, Wijesuriya S, Evans K, Jay M, Bird AC and Bhattacharya SS. Linkage refinement localises Sorsby’s fundus dystrophy between markers D22S275 and D22S278. J Med Genet. 1995;32:240-241.

Kelsell RE, Godley BF, Evans K, Tiffen PAC, Gregory CY, Plant C, Moore AT, Bird AC and Hunt DM. Localisation of the gene for progressive bifocal chorioretinal atrophy (PBCRA) to chromosome 6q. Hum Mol Genet. 1995;4:1653-1656.

Evans K, Fryer A, Inglehearn C, Duvall-Young J, Whittaker J, Gregory CY, Butler R, Ebenezer N, Hunt D and Bhattacharya SS; Genetic linkage of cone-rod retinal dystrophy to chromosome 19q and evidence for segregation distortion. Nat Genet. 1994;6:210-213.

Gregory CY, Abrams TA and Hall MO. Stimulation of A2 adenosine receptors inhibits ingestion of photoreceptor outer segments by RPE. Invest Ophthalmol Vis Sci. 1994;35:819-826.

Inglehearn CF, Keen TJ, Al-Maghtheh M, Gregory CY, Jay MR, Moore AT, Bird AC and Bhattacharya SS. Further refinement of the location for autosomal dominant retinitis pigmentosa on chromosome 7p. Am J Hum Genet. 1994;54:675-680.

Gregory CY, Evans K, Whittaker J, Fryer A, Weissenbach J and Bhattacharya SS. Refinement of the cone-rod retinal dystrophy locus on chromosome 19q. Am J Hum Genet. 1994;55: 1061-1063.

Al-Maghtheh M, Gregory C, Inglehearn C, Hardcastle A and Bhattacharya SS. Rhodopsin mutations in autosomal dominant retinitis pigmentosa. Hum Mutat. 1993;2:249-255.

Clements PJM, Gregory CY, Petersen-Jones SM, Sargan DR and Bhattacharya SS. Confirmation of the rod cGMP phosphodiesterase beta subunit (PDE) nonsense mutation in affected rcd-1 Irish setters in the UK and development of a diagnostic test. Curr Eye Res. 1993;12:861-866.

Gregory CY and Hall MO. The phagocytosis of ROS by RPE is inhibited by an antiserum to rat RPE cell plasma membranes. Exp Eye Res. 1992;54:843-851.

Gregory CY, Abrams TA and Hall MO. cAMP production via the adenylyl cyclase pathway is reduced in RCS rat RPE. Invest Ophthalmol Vis Sci. 1992;33:3121-3124.

Gregory CY, Converse CA and Foulds WS. A specific radioimmunoassay to investigate retinal photoreceptor outer segment phagocytosis by retinal pigment epithelium in vitro. Ophthalmic Res. 1991;23:171-176.

Gregory CY, Converse CA and Foulds WS. Effect of glycoconjugates on rod outer segment phagocytosis by retinal pigment epithelial explants in vitro assessed by a specific double radioimmunoassay. Curr Eye Res. 1990;9:65-77.

Reviews

Wang X, Gregory-Evans CY. Nonsense suppression therapies in ocular genetic diseases. Cell Mol Life Sci. 2015;72:1931-1938.

Gregory-Evans CY, Wallace VA, Gregory-Evans K. Gene Networks: Dissecting Pathways in Retinal Development and Disease. Prog Ret Eye Res.2013;33:40-66.

Gregory-Evans, C.Y. Zebrafish: a model system for the investigation of novel treatments for retinal disease. Adv Exp Med Biol. 2012;723:399-405.

Gregory-Evans CY, Gregory-Evans K. Foveal hypoplasia: a case of arrested development. Expert Rev Ophth. 2011;6: 565-574.

Moosajee M and Gregory-Evans CY. Advances in the molecular genetics of ocular coloboma. Expert Rev Ophth. 2006;1:209-227.

Gregory-Evans CY, Williams MJ, Halford S and Gregory-Evans K. Ocular coloboma: a reassessment in the age of molecular neuroscience. J Med Genet. 2004;41:881-891.

Gregory CY and Bird AC. Cell loss in retinal dystrophies by apoptosis – death by informed consent! Br J Ophthalmol. 1995;79:186-190.

 

Internal committees

VCHRI Research and Teaching Working Group.
Faculty Appointments, Reappointments, Promotion and Tenure Committee

Editorship

Expert Opinion in Ophthalmology

Teaching

  • PBL – Principles of Human Biology (PRINa), Year 1 Undergraduate Medicine
  • MEDG-515, Developmental Genetics, Medical Genetic Graduate Program
  • CBL – MEDD411A, Year 1 Undergraduate Medicine

Major Guest Lectures

Development of “START” therapy as a multicentre clinical trial of a novel therapy for aniridia. First Russian Congenital Aniridia Conference, Moscow, RUSSIA, 2015

Genetic regulation in ocular development. Association for Research in Vision and Ophthalmology, Denver, USA, 2015

Nonsense suppression strategies to treat ocular malformations. European Society of Human Genetics: Special Symposium, Glasgow, UK, 2015

The eye still responds to developmental signals after birth: implications for therapeutic strategies aimed at congenital abnormalities. Genes, Epigenetics and Evolution in Eye Development and disease, Madrid, SPAIN, 2014

Nonsense suppression therapy in model systems – new therapeutic options for congenital ocular diseases. Canadian College of Medical Geneticists, Vancouver BC, CANADA, 2014

Topical small molecule translational bypass therapy rescues Pax6 aniridia mutant phenotype. Association for Association for Research in Vision and Ophthalmology, Seattle, USA 2013

Suppression of programmed cell death and neuroprotection of the retina. Royal Society of Medicine, London, UK 2013

Pax2 regulates a fadd-dependent molecular switch that drives tissue fusion during eye development. 5th Zebrafish Disease Model Meeting, Cold Spring Harbor Asia, Suzhou, CHINA 2012

Molecular and phenotypic defects caused by Pax6 mutation in the mouse are corrected by small molecule translational bypass therapy. International Aniridia Workshop, Oslo, NORWAY, 2012

Identifying the critical regulatory components driving optic fissure closure during eye development. Northwest Developmental Biology Meeting, University of Washington, USA, 2011

Identification of downstream targets of the Pax6 gene in developing iris tissue. International Aniridia Workshop, Athens, GA, USA, 2011

Use of the zebrafish model system to test novel therapeutic approaches to treat genetic eye disease.International Society for Eye Research, Montreal, CANADA, 2010

Novel approaches to treating congenital ocular coloboma, an aspect of the aniridia phenotypic spectrum. International Aniridia Workshop, Edinburgh, UK, 2010

Ocular coloboma and systemic abnormalities. Dept of Ophthalmology, Great Ormond Street Children’s Hospital, London UK, 2008

Eye genetics in the 20th Century. Supervision – celebration of 150 years of Western Eye Hospital, UK, 2006

Insights into ocular coloboma and tooth development. Oral Facial Development and Regeneration; University of Ghent, BELGIUM, 2003

Role of CRX in retinal degeneration. 10th International Symposia on Retinal Degenerations, Burgenstock, SWITZERLAND, 2002

Expression of the CRX gene in human retina during early eye development. ARVO Special Interest Group: Homeobox genes and proteins; Florida, USA, 2000

Experimental approaches to study human disease. Gulbenkian Institute of Science, Lisbon, PORTUGAL, 1999

Fellowships

Medical Research Council
PhD Studentship (1985-1988)

Wellcome Trust
Vision Training Fellowship (1991-1993)

Wellcome Trust
Career Development Award (1993-1997)

Wellcome Trust
Sabbatical Leave Award (2008-2009)