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Rare diseases affect over 3.5 million people in the UK and recent medical advances have provided the means to generate potential treatments for several rare diseases that have been studied to-date but have no treatment. Importantly, a large proportion (80%) of these diseases are caused by specific alterations (mistakes) in the genetic building blocks or DNA of affected patients. New scientific methodologies, such as gene therapy, have been developed which could enable us to replace or repair DNA mistakes, but such treatments are extremely expensive. Gene therapies also take time to develop and may not be an option for all rare disease patients. Hence, there is a need for having a multi-pronged approach including drug repurposing to find novel therapies for rare neurodevelopmental disorders (RNDDs). The focus of this proposal is drug repurposing for HNRNP-related disorders.
HNRNP-related disorders are a family of neurodevelopmental disorders where patients suffer from epilepsy along with developmental delay and intellectual disability. Our initial focus is on HNRNPU, a neurodevelopmental disorder characterised by significant seizure burden and developmental delay.
In this project we aim to we aim to develop a high throughput assay for hnRNP activity using patient derived cells and investigate whether we can repurpose existing drugs for HNRNP treatment. This approach will be complementary to our existing work funded by TCHC on developing AAV-9 gene therapy for HNRNPU. This is because there is a real need to find new and parallel approaches to treating HNRNPU-related disorder including drug repurposing.
The project will provide multidisciplinary training in modern molecular, cell and physiological technologies including the generation and use of patient derived cells for drug screening strategies. The project offers the opportunity to pioneer the development of the first ever treatment for HNRNP-related disorders. The project supervisory team listed above have a broad range of expertise across the disciplines.
You will be joining a dynamic group working actively towards finding lifechanging treatments for HNRNP-related neurodevelopmental disorders.
Entry Requirements
Candidates must have a first or upper second class honors degree or significant research experience. In addition, candidates must be self-motivated, have the ability to think independently, use own initiative, have good communications skills and be well-organized including good time management. An MSc or experience in bioinformation, molecular genetics, including data mining, cell culture and in vivo studies would be desirable but not essential.
How to Apply
Please complete a University Postgraduate Research Application form available here: https://www.sheffield.ac.uk/postgraduate/phd/apply/applying.
Please clearly state the prospective main supervisor in the respective box and select ‘School of Medicine & Population Health as the department.
Project start date - October 2025
This studentship is funded through generous funding from HNRNP Family Foundation and BetterFuture4U. This studentship covers home fees and annual stipend. Overseas candidates are welcome to apply, however would need to fund the tuition fee difference.
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