Using Methods In Genetic Epidemiology To Elucidate The Relationship Between Viral Infection And Risk Of Autoimmune Disease
Funder
National Health and Medical Research Council
Funding Amount
$622,446.00
Summary
Autoimmune diseases occur when the body's natural defense mechanisms attack healthy tissues by mistake. It has long been thought that viral infections might play a role in triggering autoimmune disease. Our study aims to find genes that influence the body's response to viral infection and subsequently whether the same genes are involved in autoimmune disease pathology. If the same genes are important in both situations then this will provide evidence that viruses trigger autoimmune disease.
Defining The Role Of Genomic Structural Variations In Hypertension And Cardiovascular Disease
Funder
National Health and Medical Research Council
Funding Amount
$379,597.00
Summary
High blood pressure is caused by a variety of inherited alterations (mutations) in the letters our DNA and lifestyle. The aim of this project is to investigate gains and losses of large portions of DNA sequences consisting of between ten thousand and over a million letters (known as Copy Number Variation). We will compare the DNA of subjects who have high blood pressure with subjects who are normal. This discovery of changes may help diagnosis, prevention and treatment.
Identifying Novel Susceptibility Loci For Osteoporosis Through Whole Genome Sequencing
Funder
National Health and Medical Research Council
Funding Amount
$623,969.00
Summary
Our highly successful genome-wide studies of bone mineral density (a risk factor for osteoporosis) have highlighted 60 loci relevant to the disease. However, a substantial amount of genetic variance remains unexplained. This project will focus on less common variants that have larger effect sizes and are relevant to osteoporosis, but are not well studied by approaches such as high-density SNP arrays and genome-wide association studies.
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.
Genome-wide Analysis Of Gene Coding Variants Increasing Risk Of Endometriosis
Funder
National Health and Medical Research Council
Funding Amount
$705,035.00
Summary
Developments in genomics provide tools to find genes linked to endometriosis risk. Functional variants in protein coding regions of genes are an important class of disease causing variant and these have not been systematically screened. This project aims to use new methods to survey >95% of low frequency protein coding changes to find functional variants in genes and help develop reliable disease biomarkers and effective preventative and therapeutic strategies for this important disease.
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
Novel Ways Of Utilizing Genome-wide DNA Methylation Data From Peripheral Blood Samples In Genetic Epidemiology
Funder
National Health and Medical Research Council
Funding Amount
$285,186.00
Summary
The aim of this project is to develop statistical methods and paradigms to better leverage the considerable amount of peripheral blood DNA methylation data that has been collected from large scale epidemiological studies. In particular, our focus is on developing and optimizing statistical methods of using DNA methylation profiles to “tag” environmental exposures, so that this information can be better utilized to investigate the genetic and environmental basis of complex traits and diseases.
Tackling Heterogeneity In The Etiology Of Major Depressive Disorder
Funder
National Health and Medical Research Council
Funding Amount
$2,552,669.00
Summary
Professor Martin and his team will join an international effort to identify the first 50 genes that underlie depression. They aim to recruit 20,000 participants for this study and hope that the outcomes of their research will contribute not only to the development of better treatments for depression, but more targeted therapies for individuals affected.
Constructing Control Samples For The Australian And Other Populations: Improving Power And False Positive Rates In The Next Generation Of Genetic Association Studies With A Focus On Controlling For Fine-scale Population Structure In DNA Sequence Data
Funder
National Health and Medical Research Council
Funding Amount
$283,447.00
Summary
Individuals who live near each other tend to be more similar genetically than individuals who live in different parts of the world. One reason is that they share more of their genetic ancestry. There can be very subtle differences in patterns of genetic variation even within countries. Accounting for these subtle differences can be important for studies of the genetic basis of diseases. We will develop novel statistical methods to control for these genetic differences in disease studies.
Gene Identification For Keratoconus - A Blinding Eye Disease
Funder
National Health and Medical Research Council
Funding Amount
$912,880.00
Summary
Keratoconus is a common eye disease where the cornea at the front of the eye progressively becomes thinner and bulges out, resulting in severe visual impairment in young people. This project is investigating the genetic causes of keratoconus in a large collection of Australian patients. We aim to be better able to predict who will develop the disease and treat them earlier, as well as be able to target treatments to the causes of disease.