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
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.
Evaluating The Genetic Contribution To Rheumatic Heart Disease Pathogenesis In Australian Aboriginal And Torres Strait Islander Communities
Funder
National Health and Medical Research Council
Funding Amount
$1,782,074.00
Summary
Rheumatic heart disease is highly prevalent in Aboriginal people in Australia and leads to early cardiac disease. Despite decades of research, the underlying genetic mechanisms for why it occurs are not well understood. We are conducting a genetic study to better understand why some people are susceptible to RHD and others are not. The study will involve substantial Aboriginal leadership and consultation and will be a model for the conduct of genetic studies in Aboriginal populations.
Psychosocial Implications Of Genetic Counselling And Testing
Funder
National Health and Medical Research Council
Funding Amount
$443,946.00
Summary
I am a psychologist by background, and my research program focuses on the psychological impact of genetic counselling and testing for adult-onset disorders, in particular cancer susceptibility; psychological adjustment of those at risk for adult-onset disorders; and the design and evaluation of interventions in the genetic counselling setting, in particular the use of decision aids as an innovative means of patient education.
Identification Of Novel Common Genetic Risk Factors For Endometriosis
Funder
National Health and Medical Research Council
Funding Amount
$593,783.00
Summary
Multiple genetic factors underlie susceptibility to endometriosis—a common gynaecological disease associated with severe pelvic pain and sub-fertility. Through the identification of novel genetic risk factors and pathway-based analyses, this project will increase our understanding of the underlying genetic architecture and complex molecular pathways of endometriosis and lead to the development of diagnostic tests and rational treatment strategies.
Incorporating Genetic Information Into The Diagnosis And Treatment Of Cancers And Mental Health
Funder
National Health and Medical Research Council
Funding Amount
$123,502.00
Summary
Genetic information could improve diagnosis and selection of treatment for conditions such as cancer and psychosis. This aim of this research is to improve methods for using family history to diagnose patients, and to identify some of the genes involved in response to anti-cancer and anti-psychotic medications. This type of information can then be used to determine which drugs patients should be prescribed before starting treatment.
Physiological Genomic Analysis Of Lvm-1 - A Genetic Locus That Determines Left Ventricular Mass
Funder
National Health and Medical Research Council
Funding Amount
$356,540.00
Summary
As many as one in ten healthy individuals have big hearts. Careful scientific investigation has revealed that the bigger one's heart, the greater the risk of dying from cardiovascular disease. This is true even in the absence of known causes of heart disease. Unlike high blood pressure or cholesterol, the size of the heart is not easily measured and enlargement often goes undetected. We were among the first internationally to discover genetic clues to enlarged hearts. We identified regions on ra ....As many as one in ten healthy individuals have big hearts. Careful scientific investigation has revealed that the bigger one's heart, the greater the risk of dying from cardiovascular disease. This is true even in the absence of known causes of heart disease. Unlike high blood pressure or cholesterol, the size of the heart is not easily measured and enlargement often goes undetected. We were among the first internationally to discover genetic clues to enlarged hearts. We identified regions on rat chromosomes that harbour the gene or genes that influence heart size. The aim of these studies is to identify the exact gene responsible and to understand how that gene produces its effects. The experiments involve testing DNA samples already obtained from many hundreds of rats and breeding animals to study the consequences of the genetic abnormality in greater detail. The experiments are critical steps towards the prevention of big hearts and their complications in humans. In time, genetic tests will offer earlier detection and facilitate targeted and tailored treatments.Read moreRead less
The Role Of Genomic Copy Number Variation In Regulation Of Bone Disease Phenotypes
Funder
National Health and Medical Research Council
Funding Amount
$438,600.00
Summary
We have been working to identify quantitative trait loci for key clinical traits relevant to osteoporosis, for the past 15 years, with substantial success. We recently completed a Genome Wide Association Study and identified 20 loci with strong evidence for a role in the regulation of key bone disease phenotypes. In this project we will extend that highly acclaimed research to study genomic copy number variation and define the role of those genetic variants in osteoporosis.