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.
Clostridium Difficile: Assessing The Risks To Australia Of An Emerging Healthcare-related Pathogen
Funder
National Health and Medical Research Council
Funding Amount
$1,180,256.00
Summary
Clostridium difficile is a bacterium that causes inflammation of the large bowel that can lead to surgical removal of the bowel or death. In North America and Europe, an international epidemic strain has caused large outbreaks of severe, fatal disease. In 2009, this strain was identified for the first time in Perth, Australia. We will investigate strains currently present in Brisbane and Perth and risk of outbreaks occurring from imported and local strains.
Translating Gene Discovery For Key Diseases Into Clinical Outcomes
Funder
National Health and Medical Research Council
Funding Amount
$772,490.00
Summary
The goal of the fellowship is capitalize on successful gene mapping studies for endometriosis, inflammatory bowel disease (IBD), melanoma and other complex diseases and conduct functional studies, cross-disease analyses, and genetic studies of response to treatment. These studies will identify specific genes responsible for increased disease risk to understand the biology of these diseases, their relationship with other diseases, and help improve disease management and clinical outcomes.
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
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
Genetic, Family And Social Determinants Of The Burden And Outcome In Rett Syndrome: A Population-based Investigation
Funder
National Health and Medical Research Council
Funding Amount
$332,550.00
Summary
Rett syndrome is a severe disorder of the nervous system mainly affecting females. At birth children with Rett syndrome often seem normal but in their second year lose skills. With time it becomes clear that they are severely intellectually and physically handicapped. In 1999 the link between Rett syndrome and a mutation in the gene, known as MECP2, was found. In Australia since 1993, we have had a register of basic information on all girls and young women diagnosed with Rett syndrome. Over thre ....Rett syndrome is a severe disorder of the nervous system mainly affecting females. At birth children with Rett syndrome often seem normal but in their second year lose skills. With time it becomes clear that they are severely intellectually and physically handicapped. In 1999 the link between Rett syndrome and a mutation in the gene, known as MECP2, was found. In Australia since 1993, we have had a register of basic information on all girls and young women diagnosed with Rett syndrome. Over three quarters of the register s 248 cases have now been genetically tested. In 2000 and again in 2002, extra information on ability to do everyday tasks, behaviour, hand function, medical conditions, and use of health and education services was collected. In 2002 questions on family well being were also included. From 2004 to 2007, further information will be gathered on function, health and well being of the affected child and their family. This will be by telephone interview, questionnaire, video recording, existing medical records, clinical assessments and tests. This will include in 2004 completion of calendars which will provide information needed to estimate health and medical care costs for these children. Similar information by questionnaire and calendar will also be collected from the parents of children with Down syndrome in 2004. The information will be used to compare the social and financial burden of Rett syndrome with Down syndrome, a commoner cause of intellectual disability. The research will also show if it is possible to predict from early genetic test results how severely a child with Rett syndrome will later be affected. It will also determine whether some ways of management improve the long-term outlook for the girl and her family. Finally this study will investigate why some families cope better with this devastating disorder than others. This research is only possible in Australia because of the ongoing register we have set up here.Read moreRead less
Markers Of Androgen Action, Genetic Variation And Prostate Cancer Risk
Funder
National Health and Medical Research Council
Funding Amount
$798,907.00
Summary
This proposal aim to follow up evidence from a number of studies that genetic and non-genetic markers of hormonal action in different periods of a man's life are associated with prostate cancer risk using a collection of three large, independent epidemiologic studies on prostate cancer named the Prostate Cancer Program. A principal objective is to collect exposure data on acne and digit ratio, and genotype cases and controls across the studies of the Prostate Cancer Program for common genetic va ....This proposal aim to follow up evidence from a number of studies that genetic and non-genetic markers of hormonal action in different periods of a man's life are associated with prostate cancer risk using a collection of three large, independent epidemiologic studies on prostate cancer named the Prostate Cancer Program. A principal objective is to collect exposure data on acne and digit ratio, and genotype cases and controls across the studies of the Prostate Cancer Program for common genetic variants in 4 candidate genes in the hormonal pathway. The established risk factors for prostate cancer are only age, race and family history. We anticipate that this project will cast light on the role of hormones in prostate cancer and that we will identify new markers of risk of prostate cancer and markers of disease aggressiveness. These outcomes will help us identifying men who are at risk for prostate cancer to target screening and surveillance, and plan prevention strategies. Furthermore, they will also form the basis for research on treatment targets.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