From gene to function: hunting for new treatment targets across Alzheimer's, Parkinson's and Huntington's disease.
Professor Julie Williams and colleagues at Cardiff University have discovered over 27 risk genes for dementia which implicate the innate immune response in determining a person’s susceptibility to developing Alzheimer’s disease. Building on their world-class expertise in genetics and immunology, the UK DRI at Cardiff University uses these discoveries as the starting point for understanding disease mechanisms and producing new therapies.
The team uses cellular and animal models to understand the function of risk genes implicated in two major areas of immunity: microglia cells and the complement system. They study the involvement of complement proteins in the loss of synapses and cell death in Alzheimer’s disease and describe how Alzheimer’s risk genes affect the production and activation of microglia in the brain.
An additional programme of work develops novel mathematical approaches to the study of dementia that will be shared with by all members of the UK DRI. This work is developing models for stratifying dementia risk and statistical tools for identifying patterns in large biological ‘omics’ data sets.
UK DRI at Cardiff University is located in the Hadyn Ellis building on the Innovation campus, with access to state of the art facilities within the Cardiff University Dementia Research Network.
The UK DRI at Cardiff is delighted to offer a funded PhD Studentship for the project titled, "A precision medicine pipeline for treating rare forms of Parkinson’s disease". Parkinson’s disease is a neurodegenerative disorder leading to tremor, rigidity, and cognitive decline. There is currently no treatment that can delay the onset or prevent PD. Most cases of PD are idiopathic, but there is a substantial fraction that are familial and caused by either dominant or recessive mutations. For example, mutations in the PARKIN gene are recessive and lead to a very early onset disease and dragged out progression over 30 to 50 years. Here we aim to design a precision medicine approach for rare PARKIN mutations using a gene editing approach. The benefits of gene correction will be determined using functional neuronal assays, including RNA sequencing and electrophysiology. This project will be performed in a collaborative manner and co-supervised by Dr Dayne Beccano-Kelly, an expert on PD and synaptic biology, and Prof Vincent Dion, who has expertise in gene editing for neurodegenerative disorders. Application deadline: Friday 31 May 2024
Apply to centreThe Dion Lab at the UK DRI at Edinburgh is seeking a Technical Specialist to support within gene editing and expanded repeat sequencing carrying out supporting work, providing advice, guidance and support, and leading projects within this area. Some of the post holders key duties will include providing professional advice and guidance on gene editing processes in immortalised cell lines and iPSCs and procedures to internal and external customers, using judgement and creativity to suggest the most appropriate course of action where appropriate, and ensuring understanding of complex and conceptual issues. Ref: 18435BR, Closing date: Wednesday 15 May
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