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.
Association of Clinical and Genetic Heterogeneity With BEST1 Sequence Variations.
Shah M. et al, (2020), JAMA Ophthalmol, 138, 544 - 551
Genotype-Phenotype Analysis of Three Novel NR2E3 Mutations
Al-Khuzaei SA. et al, (2019), INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 60
Two novel homozygous splicing mutations in ARL2BP cause autosomal recessive Retinitis Pigmentosa
Fiorentino A. et al, (2019), EUROPEAN JOURNAL OF HUMAN GENETICS, 27, 43 - 44
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
Targeted deletion of an NRL- and CRX-regulated alternative promoter specifically silences FERM and PDZ domain containing 1 (Frmpd1) in rod photoreceptors.
Campla CK. et al, (2018), Hum Mol Genet