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.
Developing And Applying Statistical Genetics Methods To Identify Genes, Molecular Biomarkers And Environmental Agents That Causally Affect Risk Of Complex Musculoskeletal Diseases
Funder
National Health and Medical Research Council
Funding Amount
$707,370.00
Summary
My aim is to identify genes, biological molecules and environmental factors that causally affect risk of osteoporosis and ankylosing spondylitis (a form of autoimmune arthritis) using novel and existing statistical genetics methodologies. My research will advance understanding of the causes of these diseases, identify new opportunities for their treatment, and provide the scientific community with new statistical methods and software to identify factors that causally influence risk of disease.
Psychosocial Aspects Of Genomic Testing For Breast Cancer Risk
Funder
National Health and Medical Research Council
Funding Amount
$108,902.00
Summary
Assessing a woman’s breast cancer risk by profiling polygenic risk represents a new approach in the familial cancer setting. My study is part of a program of research that aims to facilitate translation of polygenic risk information into clinical practice. For this, I will invite 400 women to receive their personal polygenic result and i) assess interest in receiving this result; ii) assess psychological and behavioural outcomes of receiving or not receiving their personal polygenic risk result
Most eye diseases have a genetic contribution, whether rare disorders affecting children such as retinoblastoma or congenital cataracts through to common disorders of older people such as myopia, age-related macular degeneration or glaucoma. We will continue our successful research to find genes that cause these diseases and use this to improve patient care and prevent blindness. We will work out how families can use this genetic information to participate in trials to develop new treatments.
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.