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
Cancers of the skin are the most common tumours in humans, and their diagnosis and treatment impose the largest costs on Australia’s cancer budget. While much has been learned about the roles of sunlight and skin type as risk factors for skin cancer, relatively little is known about the genes conferring risk. This study will compare the genetic profiles of over 6000 patients with skin cancer to 3000 people without skin cancer to pinpoint the genes responsible for skin cancer.
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.
Young Adult Myopia: Genetic And Environmental Associations
Funder
National Health and Medical Research Council
Funding Amount
$809,271.00
Summary
Myopia affects 80% of school leavers in the cities of East Asia, 45% of Asian Australian school leavers and is probably on the rise in European Australian adolescents. Increased levels of education and lack of time outdoors are known to increase the risk of myopia. We will examine 2,000 young adults to find the genes that interact with these risk factors. In addition to confirming when these risk factors are most important, identifying molecular pathways opens the avenue of new treatments.
Geelong Osteoporosis Study: Fracture Risk Prediction Based On Twenty Years Of Prospective Data.
Funder
National Health and Medical Research Council
Funding Amount
$1,107,758.00
Summary
In this population-based study we will generate evidence, both environmental and genetic, for defining fracture risk in Australian men and women. This will help identify individuals likely to sustain fragility fractures so that suitable therapies can be recommended. The data will be useful for developing prognostic models in both a clinical setting and for genetic screening programmes.
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.