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.
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.
Role Of Brm In Skin Tumour Progression From Benign To Malignant
Funder
National Health and Medical Research Council
Funding Amount
$457,267.00
Summary
Australia has the highest incidence of skin cancer in the world. Skin cancer is 3 times as common as all other cancers combined and continues to increase in incidence, particularly in the aging population. Skin cancer is caused by exposure to the ultraviolet radiation found in sunlight. Ultraviolet radiation causes the appearance of solar keratosis, or sunspots, benign lesions that are not particularly dangerous to human health. Some of these develop into malignant squamous cell carcinomas that ....Australia has the highest incidence of skin cancer in the world. Skin cancer is 3 times as common as all other cancers combined and continues to increase in incidence, particularly in the aging population. Skin cancer is caused by exposure to the ultraviolet radiation found in sunlight. Ultraviolet radiation causes the appearance of solar keratosis, or sunspots, benign lesions that are not particularly dangerous to human health. Some of these develop into malignant squamous cell carcinomas that can spread to other tissues and are potentially fatal. Little is known about the biological mechanisms involved in solar keratosis development into squamous cell carcinomas. We have identified the gene brm as being involved in this process. It has not previously been recognised that this gene is important for skin cancer development and therefore our preliminary studies have identified a potential new target. We will study the role of this gene in ultraviolet radiation induced skin carcinogenesis, determine whether it is mutated by ultraviolet radiation in human skin cancer, and what role in plays in some key biological processes in skin cancer development. This study will expand our understanding of malignant conversion during human skin carcinogenesis, the most prevalent human cancer in Australia.Read moreRead less
Molecular Fingerprinting: Forensic Spectroscopy of Trace Gases. Safeguarding Australia from terrorism, crime and invasive diseases is essential to securing our national infrastructure. This project will develop national capabilities in anticipating and responding to critical threats to society. The scientific instrumentation developed from this effort will enhance Australia's potential aid for early detection of explosive and chemical weaponry and also in the analysis of crime scenes. This rese ....Molecular Fingerprinting: Forensic Spectroscopy of Trace Gases. Safeguarding Australia from terrorism, crime and invasive diseases is essential to securing our national infrastructure. This project will develop national capabilities in anticipating and responding to critical threats to society. The scientific instrumentation developed from this effort will enhance Australia's potential aid for early detection of explosive and chemical weaponry and also in the analysis of crime scenes. This research will significantly improve our abilities to maintain the operational advantage of Australia's security agencies through superior capabilities in threat detection.Read moreRead less
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.
Precision Nanomedicine-based Diagnostics And Therapeutics For Refractory Malignancies
Funder
National Health and Medical Research Council
Funding Amount
$7,329,484.00
Summary
The vast majority of cancer patients die of their disease due to the emergence of drug resistant cancer cells or metastatic disease that is diagnosed at late stages. Our program aims to develop new types of therapy to specifically target aggressive cancers. To detect cancer early and evaluate the effectiveness of cancer therapy, we will develop sensitive diagnostic tools and devices. This research has application to both childhood and adult cancers.