The purchase of a $1 million microscope is helping Victoria researchers study the effects of pharmaceutical drugs on a rare children’s disease.

Led by Professor Paul Atkinson and David Bellows in the University’s School of Biological Sciences, the research aims to identify a cure for a congenital glycosylation disorder which affects one in 2000 children and results in a range of paediatric diseases.

Professor Atkinson says the disorder occurs when an enzyme needed to made complex carbohydrates is missing – a cellular malfunction attributed to a specific gene mutation. The process making these carbohydrates is highly conserved in evolution allowing use of simple microbes to facilitate study of the disease.

The study has been made possible with the purchase of an Opera EvoTech automated confocal microscope – worth approximately NZ$1 million and the only one of its type in New Zealand.

Atkinson says the powerful machine allows researchers to shift genomics, the study of the relationships between gene structure and biological function, up a major gear to the next level of phenotype screening where they can microscopically see the reaction of cell to a mutation or a drug.