How The Environment And Epigenetics Affect The Brain Disease Gene, MAPT.
Funder
National Health and Medical Research Council
Summary
Genetic variants in the microtubule associated protein Tau (MAPT) gene are major risk factors for Alzheimer’s disease and Parkinson’s disease. Environmental or lifestyle factors, such as diet and smoking, have crucial roles in changing the risk of developing these diseases. These environmental factors may exert their influence via a mechanism known as "epigenetics". This project aims to determine whether the MAPT gene is susceptible to epigenetic changes by environmental factors, and whether thi ....Genetic variants in the microtubule associated protein Tau (MAPT) gene are major risk factors for Alzheimer’s disease and Parkinson’s disease. Environmental or lifestyle factors, such as diet and smoking, have crucial roles in changing the risk of developing these diseases. These environmental factors may exert their influence via a mechanism known as "epigenetics". This project aims to determine whether the MAPT gene is susceptible to epigenetic changes by environmental factors, and whether this process will have an impact on these diseases.Read moreRead less
Molecular And Cellular Control Of Human Th9 Cell Differentiation In Health And Disease
Funder
National Health and Medical Research Council
Funding Amount
$550,888.00
Summary
T helper 9 (Th9) cells are a recently defined population of CD4+ T cells that have been implicated in immunological disorders ranging from allergy, asthma, inflammatory bowel disease, and cancer, to host defence against fungal and parasitic infections. As such, Th9 cells are extremely important to human health and disease. This project aims to define the mechanisms involved in the generation, regulation and function of human Th9 cells.
Interplay Of Genetic And Environmental Factors On Age-related Cataract Development
Funder
National Health and Medical Research Council
Funding Amount
$217,519.00
Summary
We aim to investigate factors influencing the development of age-related cataract, using data collected from two population-based studies of older persons: the Blue Mountains Eye Study and the Beaver Dam Eye Study (USA). We will assess genetic susceptibility to the two common forms of age-related cataract, replicated in two Asian samples, and determine how genetic and environmental factors jointly contribute to the development of cataract in some older persons.
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.
A Novel Role For The IL-2 Pathway In Type-1-diabetes.
Funder
National Health and Medical Research Council
Funding Amount
$548,548.00
Summary
Genes encoding IL-2 and its receptor are strongly linked to susceptibility to multiple autoimmune diseases, including type-1-diabetes. Despite the importance of this pathway in the immune system, it is not yet understood how the associated genes affect disease. In this study, a novel function for IL-2 expression by dendritic cells in normal self-tolerance is investigated. The impacts of dendritic cell produced IL-2 expression and linkage to autoimmunity will be elucidated in both mouse and man.
How Does Genetic Variation For Trig Affect Autoimmune Responses Mediated By Toll-like Receptors?
Funder
National Health and Medical Research Council
Funding Amount
$671,114.00
Summary
Juvenile diabetes is an autoimmune disease that affects more than 120,000 Australians. We have recently discovered a novel gene, named Trig, in a genetic study of mice that develop juvenile diabetes similar to children. This research proposal aims to determine the function of Trig in the immune system and how it contributes to the development of autoimmune diseases, such as juvenile diabetes.
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 Role Of Duffy And PF4 In The Platelet Killing Of Malaria Parasites.
Funder
National Health and Medical Research Council
Funding Amount
$350,045.00
Summary
Platelets in the blood can kill the Plasmodium parasite, which lives inside red blood cells and causes malaria. Platelets bind parasite-infected red cells and release a molecule that is toxic to the parasite. This project will study why a red cell molecule called Duffy is also needed for this function of platelets. Most Africans carry a gene for Duffy that stops its expression in red cells, and may therefore be more susceptible to malaria because their platelets cannot kill the malaria parasite.
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
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.