Understanding the molecular basis of canvas-a novel neurological disorder caused by an expanded dna repeat

Research Opportunity
PhD students
Department / Centre
Paediatrics
Location
Royal Children’s Hospital/Murdoch Childrens Research Institute
Primary Supervisor Email Number Webpage
A/Prof Paul Lockhart paul.lockhart@mcri.edu.au 8341 6322 Personal web page
Co-supervisor Email Number Webpage
Prof Martin Delatycki martin.delatycki@vcgs.org.au Personal web page

Summary Understanding the molecular basis of canvas-a novel neurological disorder caused by an expanded dna repeat

Project Details

Repeat expansions cause over twenty neurogenetic disorders of major clinical DNA repeat expansion mutations 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 be a component of a larger study that aims to characterise the CANVAS repeat mutation 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.



Faculty Research Themes

Child Health

School Research Themes

Child Health in Medicine



Research Opportunities

PhD students
Students who are interested in joining this project will need to consider their elegibility as well as other requirements before contacting the supervisor of this research

Graduate Research application

Honours application

Key Contact

For further information about this research, please contact a supervisor.

Department / Centre

Paediatrics

Research Node

Royal Children’s Hospital/Murdoch Childrens Research Institute

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