Senior Research Scientist
- Director of Graduate Studies
My research focuses on two main areas (1) the identification of candidate genes for retinal degeneration and (2) the identification and characterization of non-visual opsins.
Our understanding of inherited retinal dystrophies, a heterogeneous group of disorders, has increased substantially over the last ten years, but many causal genes still remain to be identified. We are using several approaches to identify and characterize novel genes that are involved in photoreceptor function, maintenance and survival which in turn will improve patient screening and help to guide future treatment of these conditions.
Up until a decade ago it was assumed that non-image forming tasks were performed by rod and cone photoreceptors. The identification of a third type of photosensitive cell in the ganglion cell layer of the retina containing the photopigment, melanopsin (Opn4) changed the field. Recent work in my laboratory has identified two functional isoforms of Opn4 in the mouse retina which are expressed in different subsets of retinal ganglion cells. I am also interested in identifying novel members of the opsin superfamily of G protein coupled receptors such as vertebrate ancient (VA) opsin and Opn3.
Focus on molecules: cytochrome P450 family 4, subfamily V, polypeptide 2 (CYP4V2).
Mackay DS. and Halford S., (2012), Exp Eye Res, 102, 111 - 112
Homozygous deletion in CDH3 and hypotrichosis with juvenile macular dystrophy.
Halford S. et al, (2012), Arch Ophthalmol, 130, 1490 - 1492
Differential expression of melanopsin isoforms Opn4L and Opn4S during postnatal development of the mouse retina.
Hughes S. et al, (2012), PLoS One, 7
Vertebrate ancient opsin photopigment spectra and the avian photoperiodic response.
Davies WI. et al, (2012), Biol Lett, 8, 291 - 294
Functional diversity of melanopsins and their global expression in the teleost retina.
Davies WI. et al, (2011), Cell Mol Life Sci, 68, 4115 - 4132
Phenopolis: an open platform for harmonization and analysis of genetic and phenotypic data.
Pontikos N. et al, (2017), Bioinformatics, 33, 2421 - 2423
Unravelling the genetics of inherited retinal dystrophies: Past, present and future.
Broadgate S. et al, (2017), Prog Retin Eye Res, 59, 53 - 96
Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental Anomalies.
Xu M. et al, (2017), Am J Hum Genet, 100, 592 - 604
Biallelic Mutation of ARHGEF18, Involved in the Determination of Epithelial Apicobasal Polarity, Causes Adult-Onset Retinal Degeneration.
Arno G. et al, (2017), Am J Hum Genet, 100, 334 - 342
Characterization of CDH3-Related Congenital Hypotrichosis With Juvenile Macular Dystrophy.
Hull S. et al, (2016), JAMA Ophthalmol, 134, 992 - 1000