Paediatrics (RCH) - Theses

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End date: 2017 × Start date: 2017 × Subject: cardiomyopathy × Subject: genetics ×

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    The identification and characterisation of novel genes associated with cardiomyopathy
    Phelan, Dean Graeme ( 2017)
    Cardiomyopathies are heart muscle disorders that have a diverse clinical presentation, spectrum of severity and underlying aetiology. The aim of this PhD project was to utilise new genetic technologies to identify and subsequently characterise novel genes associated with cardiomyopathy. Using this approach a novel cardiomyopathy associated gene called ALPK3 was identified. Utilising heart cells generated from patient induced pluripotent stem cells (iPSCs) we discovered that ALPK3 provides internal structure for heart cells and assists in the connection between cells.