Senior Research Scientist and Director of Graduate Studies
- Principal Investigator
- Chair of MSD Graduate School Committee
Retinal degeneration and the identification of novel genes
The research in my lab 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.
Genetic and Clinical Findings in an Ethnically Diverse Cohort with Retinitis Pigmentosa Associated with Pathogenic Variants in CERKL
Downes SM. et al, (2020), Genes, 11, 1497 - 1497
Novel Pathogenic Sequence Variants in NR2E3 and Clinical Findings in Three Patients
Al-khuzaei S. et al, (2020), Genes, 11, 1288 - 1288
"Genetic and clinical findings in an ethnically diverse retinitis pigmentosa cohort associated with pathogenic variants in EYS".
Cundy O. et al, (2020), Eye (Lond)
Association of Clinical and Genetic Heterogeneity With BEST1 Sequence Variations
Shah M. et al, (2020), JAMA Ophthalmology, 138, 544 - 544
Loss-of-Function Mutations in the CFH Gene Affecting Alternatively Encoded Factor H-like 1 Protein Cause Dominant Early-Onset Macular Drusen
Taylor RL. et al, (2019), Ophthalmology, 126, 1410 - 1421