Synthetic DNA Standards For Clinical Genome Sequencing
Funder
National Health and Medical Research Council
Funding Amount
$870,005.00
Summary
Genome sequencing can diagnose a wide range of mutations that cause human disease. However, errors during sequencing and analysis can lead to incorrect diagnosis. We propose to develop synthetic representations of genetic mutations that are then added to a patient’s DNA sample and act as internal controls throughout the clinical sequencing workflow. These controls improve the accuracy and reliability of mutation detection, resulting in improved diagnosis and better-informed patient care.
LINEs Of Mutagenesis, Selection And Evolution In Ovarian Cancer And Chemoresistance
Funder
National Health and Medical Research Council
Funding Amount
$425,048.00
Summary
L1 elements are powerful mutagens encoded within the human genome that becomes active in epithelial tumours. I will define the broad effects of L1 elements on the evolution of chemoresistance, focusing on ovarian cancer as a model system. Ovarian cancer is characterised by a poor 5 year survival rate of ~40% with most tumours developing resistance. Understanding the impacts of L1 on this evolution will inform the development and selection of more effective treatments for ovarian cancer.
Novel Skeletal Muscle Enriched Genes In Muscle Biology And Disease
Funder
National Health and Medical Research Council
Funding Amount
$900,467.00
Summary
Each year hundreds of Australians are born with genetic muscle diseases, however, current methods fail to identify the causative disease gene in ~50% of patients. Here we will use expression patterns in skeletal muscle to prioritize novel candidate disease causing genes. We will functionally test the role of genes expressed in skeletal muscle cells using novel experimental assays. Uniquely, we will for the first time incorporate a novel class of gene (long non-coding RNAs) into our study.