The goal of our lab is to understand how signal transduction is disrupted to cause intellectual disability, which is a major healthcare challenge world-wide. Recent data indicates that genes encoding signalling enzymes such as protein kinases are frequently mutated in intellectual disability, suggesting that these components may form novel signalling pathways which are required for neurological functioning and are disrupted in patients (1). We recently discovered the first example of such a pathway, comprising Ser-Arg Protein Kinase (SRPK)(2) and the RNF12/RLIM E3 ubiquitin ligase (3,4), which controls neurodevelopmental processes and is disrupted by intellectual diability gene variants (5,6).

This PhD project aims to map signalling pathways that are disrupted in intellectual disability, with the overarching goal of uncovering much-needed therapeutic opportunities in this area. The successful candidate will have the opportunity to utilise exciting new tools and reagents in the lab and expand on our recent progress in dissecting intellectual disability signalling networks. Potential approaches include (phospho)proteomic profiling mass-spectrometry, modelling human neural development using pluripotent stem cells, animal models of intellectual disability, cutting edge biochemistry, and structural analysis using Cryogenic Electron Microscopy (CryoEM). The student will be embedded in a dynamic team with a track record in dissecting intellectual disability signalling networks. They will also have excellent opportunities for further internal and external collaborations with leading experts in this area.

At the MRC PPU, as well as the possibility of a PhD in one particular lab, we offer the possibility of two 4.5-month rotations in labs of their choice. A range of other projects from MRC PPU scientists are advertised here . Rotations provide valuable experience and help with deciding on the choice of PhD project and research group.

To apply for this project, or any of our other PhD projects, please complete the following application

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When completing the application, there will be space to copy over your CV, contact details of three referees and a cover letter explaining why you have chosen to apply to MRC PPU.

The closing date for applications is 15th January 2025. Applications from overseas students are welcome.

If you have any questions or need to get in touch with us, please email us at [email protected] .