Statistical Methods For Identifying Structural Variation In Tumour Genomes Using Next Generation Sequencing
Funder
National Health and Medical Research Council
Funding Amount
$243,458.00
Summary
New DNA sequencing technology can sequence a tumour genome affordably in 2 weeks. This re-sequencing data can be used to find small mutations and large-scale chromosomal rearrangements that together are the drivers of cancer. These may one day be used to guide cancer therapy. This project will develop new algorithms for finding mutations and apply these to discover the genetic basis of drug resistance in a model lymphoma system.
Detection Of Somatic Mutations In Sporadic Epilepsies
Funder
National Health and Medical Research Council
Funding Amount
$1,256,166.00
Summary
Finding genetic causes of epilepsies is essential for refining treatments and genetic counseling. Genetic mutations may occur after fertilization (somatic mutations). These can be difficult to detect by routine genetic tests. We aim to identify somatic mutations by: very deep sequencing of blood to find low concentrations of mutations, analysing DNA from the cerebrospinal fluid, and analysing DNA obtained from the back of the nose which is closely related to brain tissue.
Developing Interpretable Machine Learning Models For Clinical Imaging And Single-cell Genomics
Funder
National Health and Medical Research Council
Funding Amount
$1,312,250.00
Summary
Machine learning methods will be vital to make best use of the deluge of data generated by high-throughput technologies in biomedical science. To get the most out of these models, however, we need to be able to unpack the 'black box'. I will use curated clinical and public research data to benchmark and develop interpretable deep learning models and software tools. These models will be used for breast cancer screening programs and for analysis of complex, large-scale single-cell genomics data.
A Worldwide Study Of Cancer Risk For Lynch Syndrome
Funder
National Health and Medical Research Council
Funding Amount
$710,761.00
Summary
People with the genetic Lynch syndrome are more likely to get cancer but we cannot accurately predict who will get cancer and when. Doctors need this information to improve cancer prevention. Large collaborative studies are needed for this research. We have agreement from the 115 researchers to combine, into a single resource, 8,863 family trees of Lynch syndrome. We will analyse this data to determine the risk of cancer and whether it differs by sex, age, or nationality.
A Functional Assay To Classify Genetic Variants In Lynch Syndrome
Funder
National Health and Medical Research Council
Funding Amount
$368,195.00
Summary
At least one person in every 1000 is affected by Lynch syndrome, in which faulty DNA repair machinery causes high rates of cancer. People with Lynch syndrome can have their risk of cancer cut substantially with regular screening. However, we often struggle to understand whether people with 'non-standard' DNA sequences in particular genes actually have Lynch syndrome. This project develops a simple test that will tell clinicians whether a given sequence change relates to Lynch syndrome or not.
Enabling Personalised Risk Assessment For Colorectal Cancer
Funder
National Health and Medical Research Council
Funding Amount
$431,000.00
Summary
Bowel cancer screening will be most effective in disease prevention if it is applied proportionately to individual person's risk. Risk-based screening requires a risk calculator to assess personal risk. By utilising existing large, international datasets, I will identify the risk factors specific for different bowel cancer types and incorporate them to upgrade the prediction model that I have developed. This will achieve more accurate risk prediction to enable personalised risk-based screening.
Validation Of A Multiplexed Blood Based Screening Assay For The Diagnosis Of Colorectal Cancer
Funder
National Health and Medical Research Council
Funding Amount
$556,712.00
Summary
Colorectal cancer (CRC) is the second most common cancer in Australia with poor patient outcome due to late detection of the disease. We have developed a simple blood based test that can diagnose individuals with CRC at an early stage when the chance of cure is greater than 80%.
Advanced Non-invasive Cardiovascular Risk Screening In The Community: Practical And Cost Effective?
Funder
National Health and Medical Research Council
Funding Amount
$287,321.00
Summary
This research focuses on the practicalities and cost of mobile, advanced, non-invasive cardiovascular assessments to determine the extent of CVD and clinical risk factors and its likely impact on patterns of treatment and care to “disadvantaged” individuals living in rural and remote regions and Indigenous Australians. The advantage of directly acquiring risk profile information has not been fully explored and its potential to address an “epidemic” of CVD world-wide cannot be overstated.
Evaluation Of The Efficacy Of The Australian Mammographic Screening Program
Funder
National Health and Medical Research Council
Funding Amount
$504,096.00
Summary
BreastScreen Australia uses interim measures such as participation, small cancer detection and interval cancer rates to monitor the impact of the program on mortality. Using BreastScreen Victoria as a case study, we will estimate the direct impact of the program on mortality for screened women, addressing Cancer Australia's priority of 'Improving screening program outcomes to ensure that patients can be identified and treated appropriately and ensuring that screening services are effective'.
Expanding Diagnostic Approaches For Lynch Syndrome
Funder
National Health and Medical Research Council
Funding Amount
$1,269,355.00
Summary
Currently, there are ~1,000 families who have attended Family Cancer Clinics across Australia who have the hallmarks of having Lynch syndrome, a hereditary bowel cancer syndrome, but who have no gene defect identified, i.e. their cancer is unexplained. Clinicians are challenged by these “Lynch-like” patients as their family cancer risk is unknown. Our research has identified new gene defects in Lynch-like patients. Our aim is to optimise clinical testing approaches for Lynch-like patients.