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Dr Gabrielle Wheway BA(Hons), MA(Cantab), PhD, PGCert, FHEA

Lecturer in Functional Genomics

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Dr Gabrielle Wheway is a Lecturer in Functional Genomics within the Faculty of Medicine at the University of Southampton.

Nothing in life is to be feared, it is only to be understood. Now is the time to understand more, so that we may fear less. Marie Skłodowska-Curie

Dr Gabrielle Wheway was appointed Lecturer in Functional Genomics within the Faculty of Medicine in 2018. Gabrielle’s research team at Southampton focuses on the molecular genetics and cell biology of ciliopathies; rare disorders associated with defects in non-motile primary cilia. Gabrielle is also part of the Senior Management Team and is Dissertation Lead for the MSc in Genomic Medicine.

Gabrielle gained a BA (Hons) in Natural Sciences from Emmanuel College, University of Cambridge, specializing in Zoology, in 2007. Here she developed an interest in development and genetics, and undertook a final year research project in evolutionary genetics with Dr Nick Mundy. From there she moved north to Leeds Institute of Molecular Medicine, where she undertook her PhD research in medical genetics and functional characterisation of severe developmental disorders associated with primary cilia defects, supervised by Prof Colin Johnson, Prof Chris Inglehearn and Dr Carmel Toomes. Still at Leeds Institute of Molecular Medicine she pursued postdoctoral studies in functional genomics as part of the EU-funded Syscilia consortium, taking a systems biology approach to understanding cilia biology and the contribution of cilia genetics to human disease ( This work led to many publications, including a first author paper in Nature Cell Biology, in which the results of her whole-genome siRNA knockdown screen were published. This study led to identification of two new ciliopathy disease genes, and uncovered many novel insights into cilia biology. These included discovery that pre-mRNA splicing factors which are mutated in retinitis pigmentosa are localized to the base of the primary cilium and required for ciliogenesis.

She established herself as an independent researcher in 2016 when she took up a Lectureship in Biomedical Science at UWE Bristol, where she secured funding from the Wellcome Trust and National Eye Research Centre to pursue studies into the pre-mRNA splicing factors mutated in retinitis pigmentosa.


PGCert Teaching and Learning in Higher Education, University of the West of England, Bristol (2017)
PhD, Molecular genetics and cell biology of ciliopathies, University of Leeds (2011)
BA (Hons), Natural Sciences, University of Cambridge (2007)

Appointments held

Lecturer in Biomedical Science, University of the West of England, Bristol (2016-2018)
Postdoctoral Research Fellow, University of Leeds (2011-2015)

Research interests

Genetics and cell biology of ciliopathies and retinal dystrophies

Cilia cell biology

Functional genomics approaches, including high throughput genetic screening and high content imaging

Characterisation of genetic variants of unknown significance using in silico and in vitro techniques

Super-resolution confocal imaging

Research group

Human Development and Health

PhD Supervision

Accepting expressions of interest from self-funded students

MPhil/PhD research

Molecular genetics and functional characterization of ciliopathies 
Professor Colin Johnson, Professor Chris Inglehearn, Dr Carmel Toomes, MRC



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Book Chapters



MSc Genomic Medicine

Dissertation Lead and member of Senior Management Team
Contributes to teaching on modules including Advanced Bioinformatics

The role of pre-mRNA splicing factors at the base of the primary cilium, and their contribution to retinitis pigmentosa

Development of gene editing techniques to produce robust cell models of genetic disease

Characterisation of variants of unknown significance in retinal dystrophy patients (in collaboration with Miss Amanda Churchill, Bristol Eye Hospital)

Dr Gabrielle Wheway
Duthie Building DB 004
Faculty of Medicine
University of Southampton
University Hospital Southampton

Room Number: SGH/DB04/MP808

Facsimile: (023) 8120 4264

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