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MSc by Research Programme: Biological and molecular mechanisms underlying a new syndromic form of X-linked intellectual disability


About This PhD Project

Project Description

This course allows you to work alongside our world renowned experts from the School of Life Sciences and gain a ’real research’ experience. You will have the opportunity to select a research project from a variety of thematic areas of research.

You will be part of our collaborative working environment and have access to outstanding shared facilities such as microscopy and proteomics. Throughout your year, you will develop an advanced level of knowledge on your topic of interest as well as the ability to perform independent research in the topic area. Alongside basic science training in experimental design, data handling and research ethics, we will help you to develop skills in critical assessment and communication. This will be supported by workshops in scientific writing, presentation skills, ethics, laboratory safety, statistics, public engagement and optional applied bioinformatics.

The period of study is one year full-time or two years part-time research, which includes two months to write up the thesis. Please apply via the UCAS postgraduate application form: https://digital.ucas.com/courses/details?coursePrimaryId=c735d826-42b6-ca1f-50db-2a3ac6f68718

Intellectual disability (ID) and concomitant developmental delay are severe neurodevelopmental conditions which affect approximately 1% of the world population. 5% -10% of ID cases are due to mutations in genes located on the X chromosome. One of the genes shown to co-segregate with X-linked intellectual disability (XLID) in twelve patients is the gene ogt. Ogt encodes an essential enzyme, the O-GlcNAc transferase, which catalyses an abundant nucleocytoplasmic post-transcriptional modification O-GlcNAcylation. We have recently described this as a novel syndromic form of XLID (O-GlcNAc Syndrome type I) and are now pursuing four possible hypotheses for underpinning mechanisms, potentially revealing possible future targets for treatment. In your project you would interact with clinicians who have found novel mutations from exsome sequencing and use, depending on your interests, a number of possible techniques to study the effects of these mutations. This ranges from biochemical, molecular, cell biological to genetic techniques in model systems ranging from in vitro approaches to stem cells, flies and mice. You will receive expert supervision within the context of an established and well -funded lab. We would aim for your experiments to form the basis of/contribute to a scientific publication.

We are looking for hard working, self-driven and independently thinking students. Stop by for an informal chat, contact me on

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