Drinking from the fire hose - Making sense of high density genetic and genomic data. The project will improve our understanding of the genetic component of common complex diseases such as cancer. Identification of genetic variants underlying disease risk is currently one of the primary means for increasing our understanding of the biochemical and developmental pathways involved. Genetic studies rely on sophisticated statistical and computational (bioinformatics) techniques. This project centres ....Drinking from the fire hose - Making sense of high density genetic and genomic data. The project will improve our understanding of the genetic component of common complex diseases such as cancer. Identification of genetic variants underlying disease risk is currently one of the primary means for increasing our understanding of the biochemical and developmental pathways involved. Genetic studies rely on sophisticated statistical and computational (bioinformatics) techniques. This project centres on the development, refinement and application of novel statistical analysis methods in genetics. Future advances in statistical and computational methods are essential if we are to exploit the large volumes of genome data now being generated to help develop diagnostics and interventions to improve public health.Read moreRead less
Development Of A Comprehensive Model For Colorectal Cancer Risk Prediction
Funder
National Health and Medical Research Council
Funding Amount
$317,012.00
Summary
Bowel cancer is the second most common cause of cancer death in Australia. While the average lifetime risk is 1 in 20, this is a great difference in individual risks. Screening and early detection can prevent 90% of bowel cancer deaths. We need to know who is at high-risk and therefore can be targeted for screening. In this project, I will develop the first tool that can predict precisely an individual’s personal risk of bowel cancer.
An International Whole Genome Study To Definitively Map Heritable Risk In Sarcomas
Funder
National Health and Medical Research Council
Funding Amount
$836,550.00
Summary
We want to understand why some people get sarcomas, and others do not. This is likely due to genetic causes, because these cancers affect the young. We now have the tools to address this question, and have created the largest and best characterised study of sarcoma families in the world upon which to apply these tools. This project will create an enduring foundation for research into the genetic basis of sarcomas for the next 20 years.
mTOR signalling in serous ovarian cancer. Serous ovarian cancer is the most aggressive and lethal gynaecological cancer in Australian women. Activation of Mammalian Target of Rapamycin (mTOR) is frequently observed and associated with poor prognosis in ovarian cancer patients. However, the mechanisms dysregulating mTOR in the pathogenesis of ovarian cancer are unknown. In preliminary studies, deletion of genes regulating mTOR signalling in up to 60 per cent of human serous ovarian cancer patien ....mTOR signalling in serous ovarian cancer. Serous ovarian cancer is the most aggressive and lethal gynaecological cancer in Australian women. Activation of Mammalian Target of Rapamycin (mTOR) is frequently observed and associated with poor prognosis in ovarian cancer patients. However, the mechanisms dysregulating mTOR in the pathogenesis of ovarian cancer are unknown. In preliminary studies, deletion of genes regulating mTOR signalling in up to 60 per cent of human serous ovarian cancer patients was observed. This project will provide mechanistic details of involvement of mTOR signalling in pathogenesis of the serous ovarian carcinoma, and develop a rationale for targeting mTOR pathway in these patients. Read moreRead less
Genomic Profiling For The Prevention Of Colorectal Cancer
Funder
National Health and Medical Research Council
Funding Amount
$425,048.00
Summary
Bowel cancer is a major health issue but is also a preventable disease. Identifying who has a high risk of developing bowel cancer from someone who has a low risk is an important way to ensure preventative medical treatment is targeted to those who are at the highest risk and will ultimately save lives. I will utilise different genomic profiling approaches to identify risk factors for bowel cancer so that they can be used to identify high risk people in the population.
Information theoretic approaches to optimise genome wide association studies with application to continuous and discrete traits. This project aims to develop new mathematical methods to find genetic associations from new genome-wide studies of colorectal cancer and breast cancer risk factors. If successful, this will result in improved use of expensive genetic data to better predict and understand diseases, conditions and other characteristics for humans, animals and plants.
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.
New High-risk Variants For Colorectal Cancer: The Post-GWAS Era
Funder
National Health and Medical Research Council
Funding Amount
$710,105.00
Summary
Our aim is to discover new genes that greatly increase bowel cancer risk. If we can identify these carriers we may be able to prevent them getting cancer. By studying DNA related to bowel cancer, using a novel family design, we will identify families most likely to carry the new genes. We will focus genetic testing, using new techniques, to look for mutations in these prioritised families. Identified mutations will be tested in a 3,500 bowel cancer cases to see how important they are.
Inherited determinants of cancer aetiology. Family history of cancer is a strong risk factor for many cancers. This project will aim to identify inherited factors influencing risk of developing cancer and those factors influencing the course of the disease and outcomes.
Development of a diagnostic microarray to detect aneuploidy in single cells. Chromosomal abnormalities account for about 10 per cent of all babies born with a defect. The risk of chromosomal abnormalities increases with maternal age and in patients with fertility problems. It has been estimated that 50 per cent of all embryos are aneuploid. Chromosomal aberrations also occur in the vast majority of tumours in humans. Accurate and rapid detection of chromosomal defects is an important health ser ....Development of a diagnostic microarray to detect aneuploidy in single cells. Chromosomal abnormalities account for about 10 per cent of all babies born with a defect. The risk of chromosomal abnormalities increases with maternal age and in patients with fertility problems. It has been estimated that 50 per cent of all embryos are aneuploid. Chromosomal aberrations also occur in the vast majority of tumours in humans. Accurate and rapid detection of chromosomal defects is an important health service delivered to the Australian public. This project aims to develop better tests for application in prenatal diagnostics including non-invasive testing of fetal cells from maternal circulation or cervical samples at 6-13 weeks gestation, IVF and cancer diagnostics.Read moreRead less