Want to make a difference? Want to engage with cutting edge research and gain skills that will be highly sought after? This PhD project will suit a candidate who is driven to search for a cure for a rare disease called Alström syndrome for which there is currently no disease modifying treatment. As a PhD student you will extend our preliminary work on human pancreatic beta-cells (the cells that make insulin), which indicate that beta-cell dysfunction is a primary defect in Alström syndrome and could lead to many of the complications observed in patients living with Alström syndrome. You will generate a human embryonic stem cell line using CRISPR-CAS9 technology to model Alström syndrome. You will apply a cell differentiation protocol, to generate pancreatic beta-cells. You will use these beta-cells to dissect the mechanisms through which Alström syndrome affects function, using a combination of biochemical and cell biology techniques, cutting edge microscopy, and next generation sequencing to assess cell function and differentiation status. You will then assess the efficacy of small molecules to correct dysfunction.
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