Clinical features in a common inherited cause of kidney failure

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.