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
Making A Difference Building Research Capacity For Health Interventions To Improve Aboriginal Health
Funder
National Health and Medical Research Council
Funding Amount
$2,717,836.00
Summary
The program will build skills in the development and evaluation of intervention programs to improve Aboriginal health outcomes. It will focus on the health of Aboriginal people living in urban and regional centres and examine (i) child and adolescent health and (ii) chronic disease. The program is lead by two indigenous people and will build capacity in six indigenous early career researchers and a further three from non-indigenous backgrounds. The Aboriginal Health and Medical Research Council ....The program will build skills in the development and evaluation of intervention programs to improve Aboriginal health outcomes. It will focus on the health of Aboriginal people living in urban and regional centres and examine (i) child and adolescent health and (ii) chronic disease. The program is lead by two indigenous people and will build capacity in six indigenous early career researchers and a further three from non-indigenous backgrounds. The Aboriginal Health and Medical Research Council of NSW and 11 Aboriginal health services are partners through existing research programs. The program draws on extensive skills in intervention research among the Lead Applicants and will provide opportunities for the Team Investigators to work on major funded research programs in Aboriginal health. The program will develop skills in intervention research capable of providing an evidence base to inform Aboriginal health policy. It will build capacity in (i) the development of research partnerships with Aboriginal communities; (ii) the identification of potentially effective interventions; (iii) the investigation of the impact of health interventions; and, (iv) the integration of research with policy.Read moreRead less
Revealing How Interactions And Mutation Patterns Among Genes Change In Different Human Tissues By Bioinformatics Tools
Funder
National Health and Medical Research Council
Funding Amount
$334,884.00
Summary
Our understanding of common disease is hampered by the complexity of the human system. The DNA variations found in genome wide association studies of common disease are rarely in the gene coding region. I aim to develop statistical bioinformatic tools to find how the DNA variations affect human disease by taking gene expression as the quantitative phenotype. The results will explain the genetic risk of human common disease, so that better personalized prevention and therapy can be achieved.
Structural And Diffusion Tensor Neuroimaging In Twins Concordant And Discordant For Psychosis.
Funder
National Health and Medical Research Council
Funding Amount
$477,375.00
Summary
Measures from specialised brain scans i.e. MRI's (Magnetic Resonance Imaging) have suggested that several areas in the brain are different in those individuals who suffer from psychosis compared to those who don't. Evaluations of these brain differences have helped us better understand the nature of these illnesses. For example, frontal lobe dysfunction has been linked with the loss of ability to plan and organize information, seen in those who have schizophrenia. These measures may also help cl ....Measures from specialised brain scans i.e. MRI's (Magnetic Resonance Imaging) have suggested that several areas in the brain are different in those individuals who suffer from psychosis compared to those who don't. Evaluations of these brain differences have helped us better understand the nature of these illnesses. For example, frontal lobe dysfunction has been linked with the loss of ability to plan and organize information, seen in those who have schizophrenia. These measures may also help clarify the relationship between the genetic and environmental factors contributing to the development of these disorders. One of the best ways to investigate this relationship is the use of a twin study design. The Australian study of twins with psychosis will recruit dizygotic (DZ) and monozygotic (MZ) twin pairs in which at least one twin is affected by a psychotic disorder, plus control twin pairs matched for age, sex and zygosity. Measures derived from MRI scans will be collected in an attempt to further define specific brain regions reported to be different in psychosis. In addition Diffusion Tensor Imaging (DTI) will be used to visualize white matter tracts in the brain. The twin study design will allow us to differentiate genetic and environmental factors associated with these brain measures and help evaluate the potential for these measures to genetically define sub-groups of individuals with psychotic disorders. The identification of these subgroups would facilitate the search for susceptibility genes. Additionally, this study will help clarify the possible clinical overlap between affective (i.e. bipolar affective disorder) and non-affective (i.e. schizophrenia) psychotic disorders. The information obtained from this study has the potential to greatly improve our understanding of caustive factors in psychosis, which may also lead to earlier diagnosis and treatment, thereby improving prognosis.Read moreRead less
The Benefits And Harms Associated With Breast Cancer Screening In The Australian Context.
Funder
National Health and Medical Research Council
Funding Amount
$80,222.00
Summary
Australia is caught in a dilemma. Breast screening is well-established however there has been fierce debate about the value of screening programmes. I will determine the frequency of benefit and harm due to breast screening programs in Australia to better understand the true extent of overdiagnosis and overtreatment. Based on this information, I will make recommendations about how breast screening should be provided in Australia in future and clearly communicate this information to the community
Implementation And Sustainability Of Non-surgical Intervention For Dental Caries In General Dental Practice
Funder
National Health and Medical Research Council
Funding Amount
$390,388.00
Summary
Dentists in NSW and the ACT used new protocols to stop the spread of tooth decay. Many decayed teeth were then remineralised without the use of injections or drilling and filling. The process by which the dentists reorganised their practices to implement the protocols and how they explained them to their patients and practice staff will now be investigated to discover how best to promote their use Australia-wide. The sustainability and cost-effectiveness of this type of care will be measured.
ADHD Grown-up: Genetic And Environmental Determinants Of The Adult Outcomes Of Childhood ADHD And Comorbid Conditions
Funder
National Health and Medical Research Council
Funding Amount
$289,542.00
Summary
ADHD remains a controversial issue especially in adulthood. There are many related behavioural problems including substance abuse, anxiety, depression, and personality disorders. Australia is such a focus for twin research that many twin families have taken part in several studies of different aspects of mental health over the years. This grant allows us to link the various datasets to create a unique longitudinal genetic resource and to examine the longterm outcomes.