CAGE: Consortium For The Architecture Of Gene Expression
Funder
National Health and Medical Research Council
Funding Amount
$501,080.00
Summary
This research project is about understanding why some people are most susceptible to disease than others, by identifying genetic factors that influence the expression of genes that are important in disease. We will work with leaders in the field in Europe and the USA in an international research consortium to find genetic variants with an effect on gene expression and to link those genetic factors to disease. The project will provide new understanding about the biological basis of common disease ....This research project is about understanding why some people are most susceptible to disease than others, by identifying genetic factors that influence the expression of genes that are important in disease. We will work with leaders in the field in Europe and the USA in an international research consortium to find genetic variants with an effect on gene expression and to link those genetic factors to disease. The project will provide new understanding about the biological basis of common diseases.Read moreRead less
Clinical, Genetic And Psychosocial Aspects Of Sudden Cardiac Death
Funder
National Health and Medical Research Council
Funding Amount
$433,423.00
Summary
Sudden cardiac death (SCD) in the young is a tragic complication of a number of genetic heart diseases. Families must deal with profound grief and act on the genetic risk to themselves and other relatives. Clinical management can include the implantable cardioverter defibrillator (ICD) and is the only therapy proven to prevent SCD. This proposal seeks to investigate the clinical, genetic and psychosocial aspects of managing families who present following a SCD, including psychological outcomes o ....Sudden cardiac death (SCD) in the young is a tragic complication of a number of genetic heart diseases. Families must deal with profound grief and act on the genetic risk to themselves and other relatives. Clinical management can include the implantable cardioverter defibrillator (ICD) and is the only therapy proven to prevent SCD. This proposal seeks to investigate the clinical, genetic and psychosocial aspects of managing families who present following a SCD, including psychological outcomes of life-saving ICD therapy.Read moreRead less
P2X7 Mediated Phagocytosis Of Apoptotic Cells: A Common Mechanism Underlies Neurological And Eye Disorders
Funder
National Health and Medical Research Council
Funding Amount
$527,033.00
Summary
We have found a strong genetic linkage between a protein called P2X7 and a number of neurological disorders, in line with our recent discovery of a novel function of this protein in clearance of dying cells as removal of unhealthy neurons is essential to keep brain function promptly. Further study using genetic association, cell biology and animal models will lead to a conceptual advance on how neurological diseases are occurred and developed.
Development And Validation Of An Indigenous Quality Of Life And Wellbeing Index (IQWI) For Health Decision-making
Funder
National Health and Medical Research Council
Funding Amount
$1,303,527.00
Summary
This project will use innovative methods to develop a new index for measuring quality of life and wellbeing for Indigenous people. Existing tools do not capture all aspects of wellbeing and quality of life that are important to Indigenous people. A measure that is based on the values and preferences of Indigenous people will improve the relevance and transparency of clinical and health policy decision making for Indigenous Australians
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
This study is aimed at identifying genetic variants that influence susceptibility to migraine. We plan to use DNA samples already collected from families with multiple migraine affected individuals and sequence a region on the X chromosome that has previously been identified as harbouring a migraine susceptibility gene. This project will identify gene(s) that contain variants contributing to migraine.
Development And Application Of A Mendelian Randomization Framework Aimed At Dissecting The Biological Basis Of Ankylosing Spondylitis And Other Complex Diseases
Funder
National Health and Medical Research Council
Funding Amount
$279,666.00
Summary
Our aim is to identify genes and biological molecules that cause a type of autoimmune arthritis called ankylosing spondylitis. Our approach involves finding combinations of genes that are related to biological molecules of interest and then testing to see whether the gene combination is also related to risk of disease. We hope that our strategy will lead to new drug treatments targeting the condition.
The Validity Of ‘8 Instruments’ Used To Include Quality Of Life In Economic Evaluation In 8 Disease Areas And 6 Countries
Funder
National Health and Medical Research Council
Funding Amount
$856,212.00
Summary
The Quality of Life is incorporated in the economic evaluation of health services using different ‘utility instruments’. Small scale comparative studies reveal large discrepancies between measurements. Very few studies combine multiple utility and disease specific instruments and to date no studies have compared utility instruments with scales measuring subjective wellbeing (happiness) or human capabilities. This project will mount the largest cross national survey to date of these questions.
Developing An Australian Valuation For The EQ-5D-5L Quality Of Life Instrument
Funder
National Health and Medical Research Council
Funding Amount
$348,357.00
Summary
In the assessment of gains resulting from a health technology, it is standard to consider both mortality and quality of life effects. This project explores how Australians value different components of quality of life. To do this, we are running an online survey called a discrete choice experiment, and analysing the data using a range of cutting-edge econometric techniques. This will allow policy-makers to better reflect people's preferences when making decisions about new technologies.
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.