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Exploiting SNP Data In Epidemiology And Genetics Through Multivariate Analysis Of Complex Traits
Funder
National Health and Medical Research Council
Funding Amount
$476,981.00
Summary
There is overlap in risk factors across multiple diseases, and some of that overlap is due to genetic factors. The availability of genome-wide DNA data on tens of thousands of patients for multiple diseases and healthy controls allows new questions to be asked and answered. For example, what is the overlap due to genes in disease risk for multiple sclerosis and rheumatoid arthritis? This project will develop and statistical genetic methodology to answer such questions and apply those methods to ....There is overlap in risk factors across multiple diseases, and some of that overlap is due to genetic factors. The availability of genome-wide DNA data on tens of thousands of patients for multiple diseases and healthy controls allows new questions to be asked and answered. For example, what is the overlap due to genes in disease risk for multiple sclerosis and rheumatoid arthritis? This project will develop and statistical genetic methodology to answer such questions and apply those methods to a range of important diseases.Read moreRead less
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.
Identification Of A Gene That Increases Risk Of MS Via A Pathway Involving UV Exposure
Funder
National Health and Medical Research Council
Funding Amount
$111,000.00
Summary
Multiple sclerosis (MS) is an auto-immune disease of the central nervous system that affects over 10 000 Australians. It is a progressive debilitating disease that affects predominantly young adults and current therapies are expensive, only moderately effective and are associated with significant side effects. The biological processes leading to this disease are not well understood and there is a need to identify new ways of treating the disease or preventing it. One of the known factors associa ....Multiple sclerosis (MS) is an auto-immune disease of the central nervous system that affects over 10 000 Australians. It is a progressive debilitating disease that affects predominantly young adults and current therapies are expensive, only moderately effective and are associated with significant side effects. The biological processes leading to this disease are not well understood and there is a need to identify new ways of treating the disease or preventing it. One of the known factors associated with MS is the striking association of increased MS incidence with cooler climates and reduced sun exposure. A study conduced by the Menzies Centre has recently provided evidence that increased childhood sun exposure is significantly associated with reduced risk of MS. This project aims to study those genes involved in the body's response to sun exposure as we propose that if sun exposure influences risk of MS then those genes may interact with sun exposure to modify risk of MS.Read moreRead less
Environmental Risk Factors And Genetic Modifiers For Lung Health And Lung Function In A High Risk Cohort
Funder
National Health and Medical Research Council
Funding Amount
$95,348.00
Summary
Asthma is an important determinant of respiratory health and longevity. While early life exposures are thought to be important, the evidence linking them with asthma and lung function is inconclusive. There is a scarcity of longitudinal studies and few investigate genes and environment. This study will determine whether environmental exposures along with their relevant genetic modifiers are related to increased risk of asthma and impaired lung function in a high allergy risk birth cohort.
Genetic Polymorphisms In Genes Controlling Innate Immunity As Risk Factors For Childhood Acute Lymphoblastic Leukaemia
Funder
National Health and Medical Research Council
Funding Amount
$241,500.00
Summary
For some time now, researchers have speculated that the development of childhood leukaemia is related to exposure to an infectious agent. However, a causal pathogen is yet to be identified. Recent studies have shown that the initial recognition of microbes as they enter the human body is determined by a group of receptors, toll-like receptors (TLRs), which selectively bind to essential components of these pathogens. This process allows the body to respond immediately to microbial invasion; a pro ....For some time now, researchers have speculated that the development of childhood leukaemia is related to exposure to an infectious agent. However, a causal pathogen is yet to be identified. Recent studies have shown that the initial recognition of microbes as they enter the human body is determined by a group of receptors, toll-like receptors (TLRs), which selectively bind to essential components of these pathogens. This process allows the body to respond immediately to microbial invasion; a process which is vital during early childhood, when clonal expansion of antibodies and other host defences is inadequate. It is becoming increasingly apparent that this innate immune response is not just the first line of defence but a necessary event for the development of an adaptive immune response. We propose that the innate immune system of children carrying TLR gene variants may be less effective at detecting the presence of microbial pathogens in the environment. We hypothesize that by dampening the stimulation of innate immunity in early childhood, TLR gene variants may indirectly cause a dysfunction in the maturation of a child's immune system and increase the chance of a pre-leukaemic clone emerging, leading to the development of childhood leukaemia.Read moreRead less
A National Case-Control Study Of The Causes Of Childhood Brain Tumours
Funder
National Health and Medical Research Council
Funding Amount
$1,159,259.00
Summary
Childhood brain tumours are the second most common childhood cancer (~20%) after leukaemia (~35%) and are the leading cause of cancer death among children. Children who survive a brain tumour are often left with physical and mental problems as a result of treatment. This can have a significant impact on the child, family and community. Greater understanding of the causes of childhood brain tumours may lead to preventative measures. Most children with brain tumours are very young, suggesting that ....Childhood brain tumours are the second most common childhood cancer (~20%) after leukaemia (~35%) and are the leading cause of cancer death among children. Children who survive a brain tumour are often left with physical and mental problems as a result of treatment. This can have a significant impact on the child, family and community. Greater understanding of the causes of childhood brain tumours may lead to preventative measures. Most children with brain tumours are very young, suggesting that factors to which parents are exposed may affect future children. For this reason, it is important to study the parents as well as the child. This study will investigate environmental exposures known to be harmful, such as parental cigarette smoking and exposure to pesticides and other chemicals. Such exposures are also thought to increase the risk of other childhood cancers like Acute Lymphoblastic Leukaemia. We will also investigate whether dietary factors - including vitamin supplements - in the parents or the child can reduce the risk of a child developing a brain tumour. This study also examines genetic factors which can influence the body's ability to deal with toxins. Some genetic variations, combined with diet and lifestyle factors, may alter the risk of developing some cancers. These interactions need to be examined in greater detail for childhood brain tumours. This national study will examine specific genes and analyse them in conjunction with rigorous assessment of exposures throught to be related to the development of childhood brain tumours. Results obtained from children with brain tumours and their parents will be compared with those from healthy 'control' children and their parents. This is the first study to assess gene-environment interactions in relation to the risk of childhood brain tumours.Read moreRead less
Case-Control Study Of Genetic And Environmental Risk Factors For Pancreatic Carcinoma
Funder
National Health and Medical Research Council
Funding Amount
$1,003,411.00
Summary
Pancreatic carcinoma is the fourth most common cause of cancer death in developed countries, and is approximately sixty percent more common in men than in women. In Australia approximately 1800 people are diagnosed with pancreatic cancer each year and there are a similar number of deaths. The five-year survival is less than five percent, and the majority of patients die within the first year. Surgery is frequently not possible due to the advanced stage of disease at diagnosis, and chemotherapy i ....Pancreatic carcinoma is the fourth most common cause of cancer death in developed countries, and is approximately sixty percent more common in men than in women. In Australia approximately 1800 people are diagnosed with pancreatic cancer each year and there are a similar number of deaths. The five-year survival is less than five percent, and the majority of patients die within the first year. Surgery is frequently not possible due to the advanced stage of disease at diagnosis, and chemotherapy is largely ineffective. A better understanding of the causes of pancreatic cancer is essential in order to develop strategies to prevent this lethal cancer. Currently the causes of pancreatic cancer are poorly understood. Family history and smoking probably account for approximately 30% of cases, but for the remainder the cause is unknown. This study will assess a new hypothesis, namely that too much acid in the stomach possibly caused by infection with a bacterial organism, could increase the risk of pancreatic cancer. We will include people who are diagnosed with cancer of the pancreas (cases), and match these to people selected from the electoral roll who have not ever been diagnosed with pancreatic cancer (controls). Participants will be asked a series of detailed questions about their diet, smoking, occupation and medical history. We will collect blood to look for antibodies to the bacteria and to examine specific genes, and we will compare all these factors in cases and controls. This is one of the first large studies of pancreatic cancer in Australia and we will take an integrated approach to examining interactions between genetics and exposure to environmental factors.Read moreRead less
The Australian Centre of Excellence in Twin Research will build on the Australian Twin Registry, which for 30 years has played an integral part in health & medical research. The new Centre aims to expand a state-of-the-art resource for conducting research, bring together leading national and international researchers from across disciplines, and build capacity in people, techniques, and expertise to continue to enable twin research to address major health and medical issues.
Environmental Risk Factors For Iron Overload-related Disease In A Cohort Study Of Hereditary Haemochromatosis
Funder
National Health and Medical Research Council
Funding Amount
$152,936.00
Summary
Results published last year from our Melbourne HealthIron study of hereditary haemochromatosis (iron overload disease) show that almost one third of the 50,000 men genetically at risk of iron overload in Australia will develop symptoms of disease including fatigue, arthritis and liver damage. We will use data from the recent follow-up of the Health2020 cohort, of which HealthIron is a sub-study, to determine environmental risk factors for progression to disease in people with iron overload.
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