University of Exeter
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PhD Studentship: Functional interpretation of human NF1 genetic variation using precision genome editing and in vivo phenotyping University of Exeter in United Kingdom
Degree Level
PhD
Field of study
Computer Science
Funding
Available
Deadline
Dec 8, 2026
Country
United Kingdom
University
University of Exeter
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About this position
PhD Studentship at the University of Exeter focused on the functional interpretation of human NF1 genetic variation using precision genome editing and in vivo phenotyping.
This project addresses neurofibromatosis type 1 (NF1), a multisystem genetic disorder caused by variants in the NF1 gene and associated with abnormal pigmentation, nerve tumours, and problems affecting the heart, circulation, and nervous system. The central aim is to connect human genetic variation to molecular function and organismal phenotypes by combining data science, human cell culture, and zebrafish developmental biology.
The research is organised around three main objectives: identifying and prioritising pathogenic human NF1 variants, testing how selected variants alter NF1-dependent signalling, and validating their effects in a humanised zebrafish model. The project will use population and genotype–phenotype data, AI-based approaches such as biological foundation models, and functional testing in vitro. Candidate variants representing different NF1 domains will be assessed in cell systems, including responses to pathway-targeting compounds such as MEK inhibitors.
A key part of the work is the creation of a novel zebrafish platform in which the native fish nf1 coding sequence is replaced with the human NF1 sequence using CRISPR/Cas9-based genome editing. The student will then introduce selected human variants using precise editing approaches such as prime editing and donor DNA-based knock-in. Functional outcomes will be measured through imaging of transgenic reporter lines that label oligodendrocytes, Schwann cells, and endothelial cells, enabling quantitative analysis of tissue patterning, pharmacological response, and in vivo phenotype.
This is a highly interdisciplinary project spanning functional genomics, precision medicine, developmental biology, and translational disease modelling. It is designed to produce a multidimensional functional map of NF1 variants and improve understanding of how specific mutations contribute to disease mechanisms and potential therapies.
Funding: The studentship provides full fees plus a stipend of £21,805 per annum for 2026/7 and is funded by the EPSRC Engineering and Physical Sciences Research Council.
Deadline: 8 December 2026.
Funding details
Available
What's required
No explicit entry requirements are stated in the posting. The project would suit a candidate with interest in genetics, functional genomics, genome editing, zebrafish biology, and data science; prior experience with molecular biology, cell culture, or computational analysis would be advantageous if applicable.
How to apply
Apply through the University of Exeter funding page using the provided application link. Submit your application before 2026-12-08. Review the project details carefully and prepare supporting academic documents as required by the university.
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