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.
We recently established the Centre for Neurogenetics and Statistical Genomics, a research centre within the Queensland Brain Institute. It was established to bring together a team of researchers with expertise in neurogenetics, neuropsychiatric genetics, statistical genomics and computational biology. During my Fellowship I will conduct research at this Centre to elucidate the genetic basis of neurogenetic diseases and psychiatric disorders, using genomic tools and data analysis.
Large-Scale Multi-Omic Analysis And Risk Prediction Of Complex Human Disease
Funder
National Health and Medical Research Council
Funding Amount
$321,414.00
Summary
A major aim of medicine is to prevent disease, which is often more successful and cost-effective than treating an already existing condition. Common diseases, such as autoimmune and cardiovascular diseases, have a predisposing genetic basis. We will conduct genetic analysis of large datasets of coeliac disease and cardiovascular disease to better identify individuals at increased risk and to better understand the underlying biological processes through which genetics act to affect one's risk.
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.
Social media, weather forecasting and mineral exploration are driven by Big Data enabled by new technologies. Likewise, disease prevention, diagnosis and prediction is moving towards personalised and precision medicine, facilitated by novel genomics technologies. This Program of research will develop analysis methods and tools and apply them to clinical genomics data in neurological and psychiatric disorders, thereby paving the way for the translation of genomic tools to common diseases.
I am a genetic epidemiologist focused on bowel cancer risk. I will develop a comprehensive model to estimate individual cancer risk by studying the effects of personal characteristics, cancer history, genetic factors and family history of cancer using large data sets from international consortia I helped establish. My research will enable targeting of screening to those most at risk and will aid the discovery of new causes for bowel cancer.