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Drosophila model for mucopolysaccharidosis type III

This project will utilise the unique capabilities of Drosophila to both model and genetically dissect pathogenic pathways that lead from mutation to clinical symptoms in mucopolysaccharidosis type III (MPS III).

MPS III is a common, recessively inherited disorder that comprises four sub-types (MPS IIIA, MPS IIIB, MPS IIIC and MPS IIID). Each sub-type is caused by the deficiency of a lysosomal enzyme required for the degradation of heparan sulphate. As a consequence of deficient enzyme activity, heparan sulphate accumulates within cells to toxic levels.

The brain is the organ most affected in all four sub-types and, following the appearance of symptoms (at around 2-3 years of life) children undergo progressive neurological decline, culminating in an early death.

The honours project will be a cross-disciplinary collaboration between two laboratories, that of Professor Robert Richards and Dr Louise O’Keefe with that of Dr Kim Hemsley, SAHMRI.

This project will utilise the unique capabilities of Drosophila to both model and genetically dissect pathogenic pathways that lead from mutation to clinical symptoms in MPS III.


Supervisors

Tagged in Honours projects - Molecular and biomedical science, Honours projects - Robert Richards, Honours projects - Louise OKeefe, Honours projects - Molecular and biomedical science: Genetics, Honours projects - Kim Hemsley

Competition: Young Scientist of the Year

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