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
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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
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Association of Clinical and Genetic Heterogeneity With BEST1 Sequence Variations
Journal article
Shah M. et al, (2020), JAMA Ophthalmology, 138, 544 - 544
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Diabetic macular oedema: under-represented in the genetic analysis of diabetic retinopathy
Journal article
Broadgate S. et al, (2018), Acta Ophthalmologica, 96, 1 - 51
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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
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Isolation and characterization of murine Cds (CDP-diacylglycerol synthase) 1 and 2
Journal article
Inglis-Broadgate SL. et al, (2005), Gene, 356, 19 - 31
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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
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"Genetic and clinical findings in an ethnically diverse retinitis pigmentosa cohort associated with pathogenic variants in EYS".
Journal article
Cundy O. et al, (2020), Eye (Lond)
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Association of Clinical and Genetic Heterogeneity With BEST1 Sequence Variations
Journal article
Shah M. et al, (2020), JAMA Ophthalmology, 138, 544 - 544
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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
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Diabetic macular oedema: under-represented in the genetic analysis of diabetic retinopathy
Journal article
Broadgate S. et al, (2018), Acta Ophthalmologica, 96, 1 - 51
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Novel homozygous splicing mutations in ARL2BP cause autosomal recessive retinitis pigmentosa.
Journal article
Fiorentino A. et al, (2018), Mol Vis, 24, 603 - 612