Understanding the molecular basis of canvas-a novel neurological disorder caused by an expanded repeat
- Research Opportunity
- Royal Children’s Hospital/Murdoch Childrens Research Institute
|Associate Professor Paul Lockhartemail@example.com||+61383416322||Personal web page|
|Professor Martin Delatyckifirstname.lastname@example.org||Personal web page|
Summary Repeat expansions in genomic DNA are a major cause of neurodevelopmental disorders. This project utilises genetic and functional approaches to identify and understand the pathogenesis of this class of disease.
Repeat expansions cause over twenty neurogenetic disorders of major clinical significance which can present with heterogenous, overlapping clinical phenotypes. Discovery of novel expansions and diagnostic testing of known loci has proven extremely challenging due to the repeat sequences being refractory to standard molecular techniques. We recently determined that a novel intronic pentanucleotide repeat expansion on chromosome 4 causes the neurogenetic disorder termed cerebellar ataxia with neuropathy and vestibular areflexia syndrome (CANVAS). Our preliminary studies suggest the expansion is the most common genetic cause of ataxia in humans.
This project will characterise the causal expansion repeat using short read and long read gene Next Generation sequencing technologies. It will investigate pathogenic mechanisms underlying disease utilising molecular and cell biology techniques, including primary cell and induced pluripotent stem cell generation and characterisation. The candidate will also contribute to the gene discovery component of an ongoing trial testing the diagnostic utility of expansion repeat detection in next generation sequencing data.
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Research NodeRoyal Children’s Hospital/Murdoch Childrens Research Institute
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