HNRNPU syndrome is a neurodevelopmental disorder characterised by loss of function mutations in HNRNPU. Patients suffer from developmental delay, intellectual disability, early onset epilepsy, hypotonia, autistic features and a variety of anatomical abnormalities. HNRNPU is an extremely abundant essential nuclear RNA binding protein which is ubiquitously expressed. It is best characterised as a protein which helps tether XIST RNA to the inactive X-chromosome in females. In this project we aim to establish model systems for HNRNPU syndrome and utilise these to establish strategies for treating patients using both gene and mRNA replacement therapies. The use of direct mRNA injection for disease treatment was rare until very recently, but with the advent of Covid19 vaccines based on mRNAs, this approach has rapidly become mainstream. This project will offer the opportunity to utilise such cutting edge techniques to establish novel approaches to treat HNRNPU syndrome. The project involves a multidisciplinary team (Stuart Wilson, Laura Ferraiuolo, Meena Balasubramanian) with both scientific and clinical expertise in HNRNPU syndrome and will provide a broad training in molecular and cell biology and its application in medicine. For recent papers from the supervisory team see Mol Cell (2019) 75 p310-323; Ageing Cell https://doi.org/10.1111/acel.13281 ; Am J Med Genet A 2020 182 p1637-1654 .
Applications are open to students from both the UK and overseas, though we note that due to funding constraints the availability of positions for students with overseas fee status will be more limited. We anticipate competition for these studentships to be very intense. We would expect applicants to have an excellent undergraduate degree in a relevant discipline. We would also expect applicants to have completed or be undertaking a relevant master’s degree to a similar very high standard (or have equivalent research experience).
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Please complete a University Postgraduate Research Application form available here: https://www.sheffield.ac.uk/postgradapplication/
Please clearly state the prospective main supervisor in the respective box and select ‘Neuroscience’ as the department.
After the application closing date, we will shortlist applicants for an online interview. We expect to carry out interviews (each lasting approximately 30 minutes) on Tuesday 27th April (am, GMT) and Tuesday 4th May (pm, GMT). If you are shortlisted for interview, we will aim to inform you of this no later than the end of Friday 23rd April. If you are unable to attend at the specified times, please let us know if we confirm that we would like to interview you.
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