A Cohorts-based Approach To Define Monogenic Causes Of Mitochondrial Disease
Funder
National Health and Medical Research Council
Funding Amount
$824,841.00
Summary
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.