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The University of Southampton

Dr Gabrielle Wheway BA (Cantab), PhD, 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.

To this group I bring expertise in identification and functional characterisation of novel rare disease genes, with specific expertise in a group of rare diseases affecting multiple organs, the ciliopathies. My MRC DTA-funded PhD at Leeds Institute of Molecular Medicine focussed on characterising the molecular mechanisms underlying severe neurodevelopmental and retinal ciliopathies. My post-doctoral work as part of EU FP7 Programme ‘Syscilia’ took a systems biology approach to studying the genetics and cell biology of ciliogenesis and ciliopathies. As part of this project I undertook a whole genome knockdown screen analysed by high-throughput imaging and automated image analysis, leading to identification of a number of novel disease genes and functional networks of cilia proteins.

My current work uses CRISPR cell modelling of ciliopathies in combination with high-throughput cellular phenotyping for both studies of disease mechanism and characterisation of genetic variants of unknown clinical significance. I study splicing and transcript expression in ciliopathies using RNA sequencing and computational analysis methods. My work aims to improve understanding of ciliopathies to provide patient benefits through more rapid, accurate genetic diagnosis and identification of targets for therapies.


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

Appointments held

Postdoctoral Research Fellow, University of Leeds (2011-2015)
Senior Lecturer in Biomedical Sciences, University of the West of England, Bristol 2916-2018.

Research interests

  • Genetics and cell biology of ciliopathies and retinal dystrophies
  • CRISPR genome editing

  •  High throughput imaging

  •  Characterisation of genetic variants of unknown significance

  •  Splicing and transcript expression in ciliopathies

  •  RNA sequencing analysis

Research group

Human Development and Health

PhD Supervision

I have supervised 1 PhD student to completion and am currently supervising 1 other PhD student MPhil/Research

MPhil/PhD Research

PhD, Molecular genetics and functional characterisation of ciliopathies, University of Leeds 2011, funded by MRC


Member of University of Southampton Senate
Member of Faculty of Medicine Ethics Committee
Deputy Chair of Faculty of Medicine Postdoctoral Association (PDA) Steering Group
Member of Human Development and Health Academic Operations Group
Academic Integrity Officer
Human Genetics and Genomic Medicine Engagement Champion
Secretary of the UK Eye Genetics Group
Member of Genetics Society
Member of UK Cilia Network
Member of Ciliopathy Alliance
Associate Editor for Frontiers in Genetics (Human Genomics section)
Review Editor for Frontiers in Cell and Developmental Biology (Molecular Medicine section)


Module lead for MSc Genomics module ‘Principles of Genetics and Genomics’

Module lead for MSc Genomics Dissertation module

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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