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.
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.
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.
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.
Post-GWAS Functional Characterisation Of Breast Cancer Susceptibility Loci
Funder
National Health and Medical Research Council
Funding Amount
$764,632.00
Summary
Recent studies have identified regions within the human genome in which DNA sequence variations are associated with an increased risk of breast cancer. Several of these regions do not contain any known genes, suggesting that regulatory DNA sequences are responsible for the associated risk. The aim of this proposal is to identify and characterise these DNA sequences. Understanding how sequences variations in these regions contribute to breast cancer will provide novel avenues for therapy.
High-throughput Identification And Evaluation Of New Breast Cancer Genes From GWAS.
Funder
National Health and Medical Research Council
Funding Amount
$841,075.00
Summary
Recent studies have identified DNA markers within the human genome that are associated with an increased risk of breast cancer. Most of these markers are located in noncoding regions, therefore the key genes driving risk are not known. This proposal will identify the target genes at all breast cancer risk regions and assess how specific markers affect disease risk. Understanding how DNA variation contributes to breast cancer will provide new avenues for prevention or treatment.
Exploring The Function Of Breast Cancer-Associated Variants In Long Non-Coding RNAs
Funder
National Health and Medical Research Council
Funding Amount
$501,585.00
Summary
Recent studies have identified regions within the human genome in which DNA sequence variations are associated with an increased risk of breast cancer. Several of these regions do not contain any known protein coding genes, suggesting that non-protein coding genes could be responsible for the associated risk. The aim of this proposal is to identify and characterise these non-coding genes. Understanding how sequences variations in these novel genes contribute to breast cancer will provide novel a ....Recent studies have identified regions within the human genome in which DNA sequence variations are associated with an increased risk of breast cancer. Several of these regions do not contain any known protein coding genes, suggesting that non-protein coding genes could be responsible for the associated risk. The aim of this proposal is to identify and characterise these non-coding genes. Understanding how sequences variations in these novel genes contribute to breast cancer will provide novel avenues for therapy.Read moreRead less
The Aetiology Of Alcohol Use Disorders In Adulthood: A Generational Perspective
Funder
National Health and Medical Research Council
Funding Amount
$630,927.00
Summary
This study aims to investigate the causes of alcohol problems in adult Australians. We will follow-up participants from a birth cohort study who are now in their thirties. We will assess long term outcomes from in-utero exposure to alcohol and biological, developmental and genetic predictors of alcohol disorders in adulthood. This study also aims to study genetic factors which may be important in the development of alcohol abuse and dependence.
Delineating The Relationship Between Iron And Peroxisomal Disorders: The Role Of The Peroxisomal Enzyme GNPAT In Iron-Overload Disorders
Funder
National Health and Medical Research Council
Funding Amount
$700,767.00
Summary
Hereditary haemochromatosis is one of the most common genetic disorders in humans, affecting 1 in 200 Australians. We have identified a change in a peroxisomal gene which may affect iron levels in humans. The prevalence of this gene change in Australian haemochromatosis patients will be examined followed by a systematic analysis of how this protein controls iron levels in the body. Our goal is to identify and diagnose genetic changes which influence iron loading in haemochromatosis patients.