Genetic Epidemiology Of Endometrial Cancer: Towards Understanding Aetiology And Improving Risk Prediction.
Funder
National Health and Medical Research Council
Funding Amount
$353,573.00
Summary
Studies investigating thousands of genetic markers have revolutionised our understanding of genes involved in cancer, and shown that a single gene can be associated with multiple cancers. We will conduct the largest ever study to find new genes for endometrial cancer, the most common gynaecological cancer. Our unique approach will examine >11million markers across the genome, some specifically in regions known to be important for other cancers. Findings will be used for risk prediction models ....Studies investigating thousands of genetic markers have revolutionised our understanding of genes involved in cancer, and shown that a single gene can be associated with multiple cancers. We will conduct the largest ever study to find new genes for endometrial cancer, the most common gynaecological cancer. Our unique approach will examine >11million markers across the genome, some specifically in regions known to be important for other cancers. Findings will be used for risk prediction models.Read moreRead less
Genomic Risk Of Coeliac Disease In First-degree Relatives
Funder
National Health and Medical Research Council
Funding Amount
$631,757.00
Summary
Coeliac disease is a common and strongly genetically determined inflammatory disorder triggered by gluten exposure. Because of its substantial genetic component, familial risk is substantial yet currently the actual risk is poorly quantified. We aim to use genomic profiling to construct and validate a novel risk score which can accurately determine which family members of coeliac disease cases are most at risk themselves.
Integration Of Genetic Testing For Risk Associated Genomic Variants And Rare Predisposition Genes Into The Management Of High Risk Hereditary Breast Cancer Families
Funder
National Health and Medical Research Council
Funding Amount
$645,457.00
Summary
Breast Cancer is a common disease with up to 20% of cases associated with a family history. This project aims to assess the contribution of recently identified risk associated genomic variants and rare predisposition genes to the heritability of familial breast cancer. The project will also assess the experience of clinicians and patients as we aim to use this information to help improve the process of risk assessment and genetic counselling in the specialist Familial Cancer Centres.
Better Methods For Individual Risk Prediction Of Complex Traits In Human Populations
Funder
National Health and Medical Research Council
Funding Amount
$748,609.00
Summary
A genetic contribution to many common diseases is shown by an increased risk of disease in family members of diseased individuals. However, for each disease there are likely to be many hundreds of DNA variants each conferring a small increase in risk. This proposal is about the development of better statistical methods to predict disease from genome-wide genetic marker data. Individual risk prediction for disease is likely to become an integral part of Genomic Medicine in Australia.
Uncovering The Impact Of Tandem Repeat Variation On Both Common And Syndromic Forms Of Paediatric Obesity
Funder
National Health and Medical Research Council
Funding Amount
$619,622.00
Summary
We are currently in the middle of a world-wide obesity epidemic. While much of the increase in obesity prevalence is due to diet and a sedentary lifestyle, a significant proportion of risk of childhood obesity is thought to have a genetic basis. A proportion of our DNA consists of repeated DNA units, like a genetic stutter, and the number of repeats is variable in the population. We will measure the repeat number at repeats across the genome to search for changes associated with obesity.
Novel Bioinformatics Methods For Prioritizing Disease-causing INDELs
Funder
National Health and Medical Research Council
Funding Amount
$351,664.00
Summary
This project will build a bioinformatics diagnostic tool for the detection of small insertions and deletions (INDELs) in the human genome, which are the second most abundant class of human genetic variations. INDELs are implicated in many human diseases. Thus, the assessment of INDELs is critical for understanding disease etiology, disease susceptibility, and for interpreting personal genome sequencing data. The goal is to improve disease diagnosis and prevention.
Cardiovascular disease is the biggest killer in Australia. It describes diseases of the heart and blood vessels including heart attack and stroke. The risk of developing these diseases is affected by our diet and lifestyle and also by our genetic makeup that we inherit. In this project we are aiming to identify the specific heritable genetic differences between individuals that put us at greater risk of cardiovascular disease. We are studying large families from the Busselton Health Study.
Identification Of Novel Genes Predisposing To Familial Colorectal Cancer By Full Exome Sequencing
Funder
National Health and Medical Research Council
Funding Amount
$158,188.00
Summary
A third of people who develop bowel cancer have a family history of the condition. Currently, we only understand the genes involved in a small number of these families. This proposal will use new genetic techniques to look for gene faults in the remaining families by sequencing all an individual’s genes simultaneously. By identifying new genes, we can accurately assess family members’ bowel cancer risk, effectively target surveillance and help reduce their risk of developing bowel cancer.
Identification Of Novel Common Genetic Risk Factors For Endometriosis
Funder
National Health and Medical Research Council
Funding Amount
$593,783.00
Summary
Multiple genetic factors underlie susceptibility to endometriosis—a common gynaecological disease associated with severe pelvic pain and sub-fertility. Through the identification of novel genetic risk factors and pathway-based analyses, this project will increase our understanding of the underlying genetic architecture and complex molecular pathways of endometriosis and lead to the development of diagnostic tests and rational treatment strategies.
Cancers of the skin are the most common tumours in humans, and their diagnosis and treatment impose the largest costs on Australia’s cancer budget. While much has been learned about the roles of sunlight and skin type as risk factors for skin cancer, relatively little is known about the genes conferring risk. This study will compare the genetic profiles of over 6000 patients with skin cancer to 3000 people without skin cancer to pinpoint the genes responsible for skin cancer.