A cohorts-based approach to define monogenic causes of mitochondrial disease [ 2014 - 2016 ]

Research Grant

Researchers: Prof David Thorburn (Principal investigator) ,  Dr Alison Compton ,  Dr Damien Bruno ,  Prof Michael Ryan

Brief description New genomic technologies are transitioning from research to being used for routine genetic diagnosis. Rare diseases have been proposed to be one of the key beneficiaries of this translation. Collectively, rare diseases affect 6-8% of the population or ~20,000 births each year in Australia, mostly with serious health implications. Our study addresses the technical, bioinformatic and corroborative challenges needed for accurate diagnosis of a large group of rare diseases.

Funding Amount $AUD 824,841.37

Funding Scheme Project Grants

Notes Standard Project Grant