Dr Gabrielle Wheway

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About me

My background is in the genetics and cell biology of a suite of inherited developmental diseases known as ciliopathies. These conditions are so-called because they are associated with defects in primary cilia, structures on the apical surface of most cells which play important roles in signalling between and within cells. I am particularly interested in ciliopathies affecting the central nervous system, especially the retina. One of the cell types in the retina, the photoreceptor, has a hugely specialised primary cilium, and diseases associated with these are known as retinal ciliopathies.

My current research focusses on the role of pre-mRNA splicing factors in the inherited retinal disease retinitis pigmentosa. I am interested in the hypothesis that this disease may be a retinal ciliopathy, and that these proteins may have additional functions beyond splicing, at the primary cilium.

I am developing CRISPR/Cas9 and other genome editing techniques to engineer human mutations in retinal cell lines in the lab, to study the effect of these mutations on protein function and cilium structure and function. I largely use confocal microscopy to visualise effects of mutation on cell morphology and protein localisation, in addition to a range of other biochemical techniques.

In my previous work at Leeds Institute of Molecular Medicine I specialised in using high-throughput reverse genetics approaches to studying gene functions; functional genomics. I worked in an institute with many geneticists, and have a keen interest in high-throughput RNA and DNA sequencing for the identification of disease genes, and characterisation of these. I am a member of the Hearing and Sight Clinical Interpretation Panel for the 100,000 Genomes Project, and look forward to contributing to the characterisation of Tier 3 variants of unclear clinical significance from the project.

Area of expertise

Primary cilia, ciliopathies, rare disease genetics, embryonic development, developmental disease, developmental signalling, high-throughput screening, high-content imaging, genomics, functional genomics.


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