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The University of Southampton
(023) 8120 5029

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.

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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MSc Genomic Medicine

Module lead: Dissertation
Module lead: Literature review
Teaching and assessment: Introduction to Human Genetics and Genomics; Advanced Bioinformatics

BM6 Year 0

Teaching and assessment: Human Structure and Function 2 (human genetics)

Active research projects:

  • Cellular mutation modelling of pre-mRNA splicing factors to elucidate their function at the primary cilium and their contribution to human disease (Wellcome Trust September 2017 - December 2019)
  • Developing adenine base editing for functional characterisation of pathogenic missense changes (University of Southampton Faculty of Medicine Research Management Committee December 2018 - December 2019)
  • Genotype of patients with primary ciliary dyskinesia in a Palestinian cohort (Asthma Allergy & Inflammation Research Trust July 2019 - June 2021)

Past research projects:

  • Extending the study of splicing factors at the base of the cilium and their role in RP pathogenesis - are PRPF3, PRPF4, SNRNP200, RP9 and DHX38 cilia proteins? (National Eye Research Centre Sept 2016 – Sept 2017)
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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