Clinical features in a common inherited cause of kidney failure

Research Opportunity
PhD, Honours, Master of Biomedical Science
Number of Honour Places Available
2
Number of Master Places Available
2
Department
Medicine and Radiology
Location
Royal Melbourne Hospital
Primary Supervisor Email Number Webpage
Professor Judy Savige j.savige@unimelb.edu.au 8344 3260 Personal web page
Co-supervisor Email Number Webpage
A/Prof Deb Colville colville@unimelb.edu.au 0411511746
A/Prof Heather Mack hmack@eyesurgery.com.au

Summary The aim of this project is to correlate mutations with clinical features. This project includes attending clinics, taking retinal photographs, searching clinical records, and examining mutations for pathogenic features (bioinformatics).

Project Details

Alport syndrome is one of the commonest forms of inherited form of kidney failure and is  associated with hearing loss, and ocular abnormalities too. Disease is either X-linked or autosomal recessively inherited. Our laboratory curates the international Alport mutation databases. Recently the Australian government has funded testing for Alport syndrome and we have a number of families whom we would like to investigate. The aim of this project is to correlate mutations with clinical features. This project includes attending clinics, taking retinal photographs, searching clinical records, and examining mutations for pathogenic features (bioinformatics).

Skills include clinical exposure, retinal photography, interpretation of mutation pathogenicity, some bioinformatics.This project will result in at least one publication.



Faculty Research Themes

Child Health

School Research Themes

Child Health in Medicine



Research Opportunities

PhD, Honours, Master of Biomedical Science
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

Medicine and Radiology

Research Node

Royal Melbourne Hospital

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