PhD Studentship (Industry Linked - 4 Years)
Vacancy Reference Number: RW_Angelman_PhD
Closing Date: 5 Dec 2024
Salary: Current UKRI Postgraduate student stipend
Address: Royal Holloway University of London, Egham, Surrey, TW20 OEX, UK
Duration: 4 years
This is a 4-year PhD studentship with industry funding.
Project Overview
Angelman syndrome is a severe neurodevelopmental disorder, characterized by developmental delay, speech impairment, intellectual disability, epilepsy, and ataxia. The syndrome is caused by the deletion or mutation of the ubiquitin E3 ligase A (UBE3A) gene. Ketogenic diets represent the gold-standard treatment for Angelman syndrome; however, these high fat/low carbohydrate diets can be difficult to maintain. Our research has focused on understanding how one of these diets, the medium chain triglyceride (MCT) diet, works at a molecular level. We have identified specific fats given in this diet that are likely to provide therapeutic outcomes and identified how these fats work at a cellular level. Through these discoveries, we have developed a new diet with a specific blend of medium chain fatty acids that is clinically effective without difficult carbohydrate restrictions. This project will investigate the treatment of Angelman syndrome relating to the newly developed diet. The project will employ a human iPSC cellular model of Angelman Syndrome to investigate this dietary treatment, characterizing the effects of these medium chain fatty acids using a range of molecular cell biology approaches. The project will involve distinct research approaches, including various ‘omics’ analyses, cell biology, biochemistry, cell signalling, and pharmacological research. The outcome of this project will be an improved understanding of the treatment of Angelman syndrome by dietary treatments, potentially leading to improved patient outcomes.
This will be a highly competitive studentship, and applicants with a Master's degree in the area of molecular or cell biology are particularly encouraged to apply.
Contact Details
Prof Robin SB Williams, Centre for Biomedical Sciences, Department of Biological Sciences, Egham Surrey TW20 OEX.
Email: robin.williams@rhul.ac.uk
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