Models And Quality Of Genetic Health Services For Aboriginal And Torres Strait Islander People
Funder
National Health and Medical Research Council
Funding Amount
$351,240.00
Summary
Genetic health services are playing an increasingly important role in improving human health. Aboriginal people are underrepresented in such services despite a higher prevalence of a number of genetically determined conditions and evidence of willingness to access these services. Our grant will inform the development of effective models of genetic health service provision for Aboriginal people. This will improve health equity both now and in the future.
Population-based Genetic Screening For Klinefelters Syndrome: A Critical Analysis
Funder
National Health and Medical Research Council
Funding Amount
$75,468.00
Summary
Klinefelter’s Syndrome (KS) is a common and important genetic condition affecting males, yet 70% are never diagnosed. Males with KS are always infertile and may have hormone imbalances, breast development, decreased facial and pubic hair, and varying levels of cognitive, social, behavioural and learning difficulties. Treatment and intervention options are available, if KS is diagnosed early enough. Screening for the condition is possible - but what would the advantages and disadvantages of this ....Klinefelter’s Syndrome (KS) is a common and important genetic condition affecting males, yet 70% are never diagnosed. Males with KS are always infertile and may have hormone imbalances, breast development, decreased facial and pubic hair, and varying levels of cognitive, social, behavioural and learning difficulties. Treatment and intervention options are available, if KS is diagnosed early enough. Screening for the condition is possible - but what would the advantages and disadvantages of this be?Read moreRead less
Novel Statistical Methods For The Analysis Of Meausred Genetic And Environmental Risk Factors In Twin Studies
Funder
National Health and Medical Research Council
Funding Amount
$478,314.00
Summary
Studies on twins are an important way to determine whether the risk of disease is likely to be influenced by genetic factors but have traditionally focussed on unmeasured factors. New epidemiological studies measure thousands of genetic variants on many participants. This project will extend methods for analysing data within and between twin pairs to determine whether risk factors are likely to be causal and therefore should be the subject of further designed studies based on intervention.
The Interaction Between The Host And Pathogen Genetics In Susceptibility To Pulmonary Tuberculosis
Funder
National Health and Medical Research Council
Funding Amount
$390,294.00
Summary
People infected with the bacteria causing tuberculosis (TB) have different clinical fates. Some people remain well with dormant infections, some get lung disease and survive, others die. We are investigating the interplay between the human host and the bacteria causing disease by identifying genetic variants in both. This will enable us to determine what is important in the defence against this disease. Knowledge of the different TB disease processes is critical for future rational design of new ....People infected with the bacteria causing tuberculosis (TB) have different clinical fates. Some people remain well with dormant infections, some get lung disease and survive, others die. We are investigating the interplay between the human host and the bacteria causing disease by identifying genetic variants in both. This will enable us to determine what is important in the defence against this disease. Knowledge of the different TB disease processes is critical for future rational design of new TB vaccines and treatments.Read moreRead less
Genetic Regulation Of Hip Geometry, Structure And Fracture
Funder
National Health and Medical Research Council
Funding Amount
$403,625.00
Summary
Osteoporotic hip fracture is common in the elderly and a major cause of hospitalization. Hip fracture may lead to surgery, chronic reduced mobility, loss of function, institutionalization or death. The term osteoporosis covers a heterogeneous syndrome including juvenile, secondary (e.g. corticosteroid induced) and postmenopausal osteoporosis. This later broad grouping shows evidence of a strong familial association. Previous work has shown that a family history of fracture increases the risk of ....Osteoporotic hip fracture is common in the elderly and a major cause of hospitalization. Hip fracture may lead to surgery, chronic reduced mobility, loss of function, institutionalization or death. The term osteoporosis covers a heterogeneous syndrome including juvenile, secondary (e.g. corticosteroid induced) and postmenopausal osteoporosis. This later broad grouping shows evidence of a strong familial association. Previous work has shown that a family history of fracture increases the risk of fracture by more than four fold. Furthermore, studies in twins have persistently shown that phenotypes such as bone mineral density (BMD), broadband ultrasound attenuation of bone and hip structural indices are strongly inherited. This confirms a genetic basis for the disease in some individuals. Community health in general has improved substantially in Australia in the past four decades and this has resulted in increased longevity. In contrast, the incidence of hip fracture and the resulting drain on public health funding continues to increase rapidly. Presently the cost of osteoporosis in Australia is $7.5 billion per annum. Hip fracture accounts for the majority of these costs. Instituting effective prevention strategies is essential. This project aims to contribute to one of Australia's National Research Pritoities by improving understanding about the way in which inherited aspects of hip geometry and structure contribute to the hip fracture susceptibility. We have successfully completed genome screen projects studying genetic linkage in the families to localize genes regulating BMD in the past. However, BMD is only one of a number of relevant phenotypes. In relation to hip fracture, geometry and structure are thought to be particularly important. In this project we will make use of existing resources to advance studies of both genetic linkage and association to examine fundamental issues related to hip facture.Read moreRead less
Valvular heart disease is a common cause of heart failure. Identification of the genetic causes of valvular heart disease has important implications in our understanding of these heart diseases, as well as translating these genetic discoveries into better diagnostic and prevention strategies in at-risk families. This research proposal seeks to perform a comprehensive clinical and genetic investigation of individuals and families with the two most common valvular heart diseases, mitral valve prol ....Valvular heart disease is a common cause of heart failure. Identification of the genetic causes of valvular heart disease has important implications in our understanding of these heart diseases, as well as translating these genetic discoveries into better diagnostic and prevention strategies in at-risk families. This research proposal seeks to perform a comprehensive clinical and genetic investigation of individuals and families with the two most common valvular heart diseases, mitral valve prolapse and congenital bicuspid aortic valve.Read moreRead less
Relating Genetic, Biological, And Behavioural Markers Of Early Conduct Problems In Young Females
Funder
National Health and Medical Research Council
Funding Amount
$403,639.00
Summary
Child CPs are the first identifable sign of ongoing mental health problems. Most research is done with males, but they are also the most common early markers in females. We are in the unique position to conduct the first test of the relationships between specific genetic risk, neurobiological markers and psychological functioning in females. Findings will inform models of genertic vulnerability, the relationship of genetic risk to basic information processing styles in at-risk children.
Relating Genetic, Biological, And Behavioural Markers Of Early Vulnerability In Conduct Problem Children.
Funder
National Health and Medical Research Council
Funding Amount
$439,183.00
Summary
This research will conduct the first test of specific genetic risk in a large and representative sample of young conduct problem children. These children represent the first readily identifiable group that are at high risk for ongoing mental health problems in our community. It is highly likely that within their numbers are heterogeneous subgroups that will take very different trajectories through life. The current study builds on several years of developmental research in which we have develope ....This research will conduct the first test of specific genetic risk in a large and representative sample of young conduct problem children. These children represent the first readily identifiable group that are at high risk for ongoing mental health problems in our community. It is highly likely that within their numbers are heterogeneous subgroups that will take very different trajectories through life. The current study builds on several years of developmental research in which we have developed methods for identifying different phenotypes within the group. The study will identify genetic markers of these subtypes and relate these to emotional processing as a general model of risk in the development of mental health problems and antisocial behaviour. Findings will inform models of genetic vulnerability, and more importantly, the relationship of genetic risk to basic information processing styles in at-risk children, thus aiding methods for early detection, early intervention and prevention.Read moreRead less