Evaluating The Burden And Aetiology Of Medical Comorbidities Among People With HIV In Australia: Towards The Optimal Management Of The Ageing HIV Positive Population
Funder
National Health and Medical Research Council
Funding Amount
$105,599.00
Summary
People with HIV are living longer due to better HIV medications. People with HIV also have more medical problems (like heart disease and cancer) than HIV negative persons. Therefore, treating these other medical conditions is becoming a larger part of caring for people with HIV. This research focuses on: 1) Understanding how common these medical conditions are among people with HIV; and 2) Identifying the reasons behind why people with HIV have more medical problems than HIV negative people.
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
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 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
Germline Mutations In Mismatch Repair Genes: Prevalence, Risk Of Cancer, And Environmental Modifiers Of Risk.
Funder
National Health and Medical Research Council
Funding Amount
$216,750.00
Summary
Aims: 1. Develop a model that will predict who has a mutation in a group of genes that cause cancer 2. Estimate risk of cancer in people who have a mutation in these genes (carriers) 3. Determine if cancer risk in carriers can be reduced People who inherit a mutation in a group of genes called 'mismatch repair genes' are at increased risk of cancer, particularly cancer of the colon and rectum. If these carriers can be identified they can take preventive measures such as screening to reduce their ....Aims: 1. Develop a model that will predict who has a mutation in a group of genes that cause cancer 2. Estimate risk of cancer in people who have a mutation in these genes (carriers) 3. Determine if cancer risk in carriers can be reduced People who inherit a mutation in a group of genes called 'mismatch repair genes' are at increased risk of cancer, particularly cancer of the colon and rectum. If these carriers can be identified they can take preventive measures such as screening to reduce their risk of cancer and death. We will develop a model using data from the Colon Cancer Family Registry (CFR), the world's largest dataset of carriers and non-carriers which has already recruited and genetically tested over 4,000 families from Australasia, USA and Canada. The model will allow clinicians to predict who is a likely be a carrier based so they can be tested for the mutation. We know the risk of cancer is high in carriers, but we don't have precise estimates. We will use the Colon CFR applying sophisticated statistical methods required to answer this question. This data is critical for genetic counselling so appropriate decisions can be made by the patient and the doctor as to what preventive measures to take. We will also use the Colon CFR data to find out what how the carriers who develop cancer differ from those who stay cancer free using their completed lifestyle questionnaires which includes questions on diet, smoking, alcohol consumption, exercise, aspirin use, and oral contraceptive pill use. We may identify risk factors that carriers can avoid (or take up if they reduce cancer risk) to reduce their risk of cancer.Read moreRead less
A Population-based Family Study Of Filaggrin Mutations And Allergic Disease Risk In Australia
Funder
National Health and Medical Research Council
Funding Amount
$308,584.00
Summary
It is biologically plausible that the association of known environmental risk factors for asthma may be different for genetically susceptible individuals. Few studies have examined the interaction between genetic and environmental factors. that have not considered genetic susceptibility are estimating an average risk of asthma across all genotypes in the population which may not be relevant for a particular sub-group.
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