4 Year Wellcome Trust PhD Programme: Biological and molecular mechanisms underlying a new syndromic form of X-linked intellectual disability

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 exome sequencing and use, depending on your interests, a number of possible techniques to study the effects of these mutations. This ranges from biochemical, molecular, structural, 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 are looking for hard working, self-driven and independently thinking students that are able to write their own project proposal with input from us. Stop by for an informal chat, contact me on [Email Address Removed].