Contact information
Research groups
Biography
I am a scientist with a long-standing interest in ocular genetics. My introduction to the field began in the final year of my undergraduate Experimental Pathology degree at the University of Glasgow, in which I examined the expression of the Six gene family in the eye. I continued my research at UCL Institute of Ophthalmology gaining a PhD in Genetics. I am currently a member of the United Kingdom Inherited Retinal Disease Consortium.
Suzanne Broadgate
PhD BSc. (Hons)
Postdoctoral Researcher
Research Summary
My research focuses on
- Inherited retinal dystrophies
- Characterisation of genes that play a role in retinal maintenance and function
- Diabetic macular oedema
My current research uses next-generation sequencing techniques to identify genes involved in inherited retinal dystrophies and particularly macular dystrophies.
The aim of this study is to identify novel disease-causing genes, to characterise them in the retina and to enhance our understanding of retinal physiology in health and disease.
As a member of the United Kingdom Inherited Retinal Disease Consortium, I analyse whole exome and whole genome sequencing (WES and WGS) data from patients recruited to this study from the Oxford Eye Hospital.
This project aims to provide the patient with a molecular diagnosis, as well as leading to new targets for future therapies.
Key publications
Association of Clinical and Genetic Heterogeneity With BEST1 Sequence Variations
Journal article
Shah M. et al, (2020), JAMA Ophthalmology, 138, 544 - 544
Diabetic macular oedema: under‐represented in the genetic analysis of diabetic retinopathy
Journal article
Broadgate S. et al, (2018), Acta Ophthalmologica, 96, 1 - 51
Unravelling the genetics of inherited retinal dystrophies: Past, present and future
Journal article
Broadgate S. et al, (2017), Progress in Retinal and Eye Research, 59, 53 - 96
Identification of rod- and cone-specific expression signatures to identify candidate genes for retinal disease
Journal article
Holt R. et al, (2015), Experimental Eye Research, 132, 161 - 173
Isolation and characterization of murine Cds (CDP-diacylglycerol synthase) 1 and 2
Journal article
Inglis-Broadgate SL. et al, (2005), Gene, 356, 19 - 31
FGFR3 regulates brain size by controlling progenitor cell proliferation and apoptosis during embryonic development
Journal article
Inglis-Broadgate SL. et al, (2005), Developmental Biology, 279, 73 - 85
Recent publications
"Genetic and clinical findings in an ethnically diverse retinitis pigmentosa cohort associated with pathogenic variants in EYS".
Journal article
Cundy O. et al, (2021), Eye (Lond), 35, 1440 - 1449
Association of Clinical and Genetic Heterogeneity With BEST1 Sequence Variations
Journal article
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
Journal article
Taylor RL. et al, (2019), Ophthalmology, 126, 1410 - 1421
Diabetic macular oedema: under‐represented in the genetic analysis of diabetic retinopathy
Journal article
Broadgate S. et al, (2018), Acta Ophthalmologica, 96, 1 - 51
Novel homozygous splicing mutations in ARL2BP cause autosomal recessive retinitis pigmentosa.
Journal article
Fiorentino A. et al, (2018), Mol Vis, 24, 603 - 612