Pathogenic Repeat Expansions In Ataxia: Advancing Gene Discovery And Genetic Diagnosis
Funder
National Health and Medical Research Council
Funding Amount
$645,205.00
Summary
Hereditary ataxia is a severe neurological disorder that results in impaired coordination and balance and affects 1 in 20,000 Australians. Ataxias are often caused by complex genetic mutations called repeat expansions (RE), which are difficult to detect. Therefore, genetic diagnosis of ataxia remains limited and poorly accessible, leading to a gap in clinical care. In this study, we will utilise modern advances in genetic sequencing technology to diagnose and discover ataxias caused by REs.
Improving The Synthesis Of Medical Research: The Evidence Synthesis Taxonomy Initiative
Funder
National Health and Medical Research Council
Funding Amount
$645,205.00
Summary
People who make decisions regarding the health of individuals or a society need trustworthy information to support these decisions, whether they be about the effectiveness of a strategy, the burden of a disease, the accuracy of a medical investigation or the preferences and values of a population. To produce trustworthy evidence, we need to collate and synthesise all of the information available. This work will improve the science behind evidence synthesis and the quality of evidence synthesis.