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Major Histocompatibility Complex (MHC) Genetics Of Ankylosing Spondylitis
Funder
National Health and Medical Research Council
Funding Amount
$568,612.00
Summary
Ankylosing spondylitis (AS) is the prototypic condition of a group of types of inflammatory arthritis called 'seronegative spondyloarthropathies'. These conditions are the most common form of inflammatory arthritis in white populations and occur worldwide. One third of the risk of developing AS is determined by genes within a region called the 'major histocompatibility complex' (MHC), in addition to the gene HLA-B27, the main gene causing AS. We aim to identify the remaining MHC genes.
The Immunogenetics Of Ankylosing Spondylitis: A Genetic And Functional Investigation Of IL23R And Related Genes
Funder
National Health and Medical Research Council
Funding Amount
$536,679.00
Summary
Ankylosing spondylitis (AS) is a common inflammatory arthritis which causes primarily back pain and stiffness, and affects 1-250 individuals. Our group identified association between tagging genetic markers in the gene IL23R and AS, and our preliminary data suggests some related genes are involved as well. This study aims to identify the key genetic variants involved and determine the mechanism by which they cause AS.
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.
Early Versus Delayed Therapeutic Venesection For The Prevention Of Hereditary Haemochromatosis
Funder
National Health and Medical Research Council
Funding Amount
$196,012.00
Summary
This study will investigate treatment by blood removal for the inherited iron overload condition hereditary haemochromatosis: Is treatment more effective in reducing risk of disease if performed early as a preventive measure rather than later after diagnosis with symptoms? Details of the lifetime history of blood donation from the Australian Red Cross Blood Service will be combined with existing information from questionnaires and clinical examination of 1,439 study participants in Melbourne.
A Genome Wide Association Study For Alcohol And Nicotine Addiction Susceptibility Genes
Funder
National Health and Medical Research Council
Funding Amount
$872,816.00
Summary
Alcohol and nicotine addiction are major public health problems within Australia. As well as the personal and economic costs associated with dependence, there is a wide range of downstream health effects from heavy drinking and smoking. This is a proposal for a genome wide association study to systematically screen and identify genetic variants within the Australian population that affects an individual's liability to developing alcohol addiction, nicotine addiction or both.
New Computational Methods For The Analysis Of Whole-genome Data
Funder
National Health and Medical Research Council
Funding Amount
$151,516.00
Summary
A complete understanding of the mechanisms underlying common diseases can only be achieved if all pathways at which genetic variation contributes to disease risk are identified. Most available methods to identify such predisposing genetic variation are adequately powered only when analysing data for many thousands of samples. We will develop more powerful statistical methods that can increase our ability to identify disease genes from large-scale association studies.
Accurate Prediction Of Individual Risk To Disease From Genome-wide Association Studies
Funder
National Health and Medical Research Council
Funding Amount
$269,371.00
Summary
Risk for many complex diseases (such as psychiatric disorders or heart disease) has a substantial genetic component, however few specific high risk variants have been identified. Evidence is mounting that there are likely to be hundreds of risk loci each individually conferring a very low increase in relative risk for disease. We aim to develop methods that utilise information from multiple genetic risk variants simultaneously to create a 'genomic profile' of risk.
Finding The Genetic Causes Of Asthma: The Australian Asthma Genetics Consortium (AAGC)
Funder
National Health and Medical Research Council
Funding Amount
$1,697,639.00
Summary
Asthma is a major burden on individuals and health systems. Despite many decades of research, no major effective new treatments for asthma have emerged recently. We will establish a large international consortium to systematically test nearly all known human genes to identify those that influence asthma susceptibility. We expect to identify pathways not previously implicated in asthma and so lead to a potential breakthrough in the development of more effective treatments.
I am a human geneticist studying the genetics (molecular genetics and heredity) and variation of common complex human traits and disease, in particular, migraine and endometriosis.
Increasing Appropriate Screening For Colorectal Cancer Patients And First Degree Relatives. A RCT.
Funder
National Health and Medical Research Council
Funding Amount
$1,372,866.00
Summary
Adoption of guideline recommendations is difficult to achieve. This research aims to improve adherence to guideline recommendations for surveillance for people with colorectal cancer and screening in their first degree relatives using an educational intervention. People with colorectal cancer and their first degree relatives will be randomly assigned to an educational intervention or to usual care, and adherence to guideline recommendations will be compared between groups.