Transforming the diagnosis of mitochondrial disorders using high-throughput sequencing, functional prediction and experimental validation [ 2012 - 2014 ]

Research Grant

Researchers: Prof David Thorburn (Principal investigator) ,  Dr Alison Compton ,  Dr Sarah Calvo ,  Prof Michael Ryan

Brief description The human genome project sparked enormous improvements in our ability to sequence DNA. “Next Generation” DNA sequencing can potentially sequence an individual’s entire genome in a week and has the ability to transform the diagnosis of inherited diseases but is as yet unproven in a medical genetics context. We will develop and validate the use of Next Generation sequencing to enable the rapid sequencing of over 1000 genes in which mutations cause inherited metabolic diseases.

Funding Amount $AUD 670,794.39

Funding Scheme Project Grants

Notes Standard Project Grant