New High-risk Variants For Colorectal Cancer: The Post-GWAS Era
Funder
National Health and Medical Research Council
Funding Amount
$710,105.00
Summary
Our aim is to discover new genes that greatly increase bowel cancer risk. If we can identify these carriers we may be able to prevent them getting cancer. By studying DNA related to bowel cancer, using a novel family design, we will identify families most likely to carry the new genes. We will focus genetic testing, using new techniques, to look for mutations in these prioritised families. Identified mutations will be tested in a 3,500 bowel cancer cases to see how important they are.
Integrating Immunity And Genetics In Follicular Lymphoma To Establish A Prognostic Score Fit For The Modern Era
Funder
National Health and Medical Research Council
Funding Amount
$1,377,174.00
Summary
Follicular lymphoma (FL) is divided into early and advanced stages. Early stage FL is frequently cured, but there is no way to identify who will be cured and who won't. By contrast advanced stage FL is incurable. Our unique access to well-annotated clinical trial and population based cohorts allows us to perform a detailed biological comparison of early and advanced FL, to gain a deeper understanding of the impediments to eradicating the disease, and to predict outcome to conventional therapy.
Regulation Of Cardiometabolic Disease By A Novel ATP Binding Cholesterol Transporter, ABCA8: A New Therapeutic Target?
Funder
National Health and Medical Research Council
Funding Amount
$316,585.00
Summary
Approximately 1.7 million Australians and 12% of the population in Singapore has type 2 diabetes (T2D). We have identified a cholesterol transporter, ABCA8, the absence of which produces symptoms similar to those seen in humans with T2D. The aim of this project is to understand the molecular basis of the diabetes symptoms in mice that do not have ABCA8 with a view to identifying this transporter as a drug target to reduce T2D and its complications, including heart attacks.
Molecular Mechanisms Of Inherited Cardiomyopathies
Funder
National Health and Medical Research Council
Funding Amount
$611,574.00
Summary
Heart failure due to disorders of the heart’s contraction and rhythm is a major health burden for our community. Two of the most common causes of heart failure are dilated cardiomyopathy (DCM) and atrial fibrillation (AF). The broad objective of DF’s research is identification of genetic variants that cause familial forms of DCM and AF, and elucidation of the pathophysiological effects of these variants. A better understanding of disease mechanisms will facilitate new approaches to diagnosis, tr ....Heart failure due to disorders of the heart’s contraction and rhythm is a major health burden for our community. Two of the most common causes of heart failure are dilated cardiomyopathy (DCM) and atrial fibrillation (AF). The broad objective of DF’s research is identification of genetic variants that cause familial forms of DCM and AF, and elucidation of the pathophysiological effects of these variants. A better understanding of disease mechanisms will facilitate new approaches to diagnosis, treatment and prevention.Read moreRead less
Identification Of Novel Familial Patterns And Genotypes Associated With Inherited Risk In Adult-onset Sarcoma: The International Sarcoma Kindred Study
Funder
National Health and Medical Research Council
Funding Amount
$552,855.00
Summary
Inherited genetic risk is important in cancers that affect the young. The International Sarcoma Kindred Study (ISKS) is the world's first prospective study aiming to better understand how sarcomas can be inherited in families, and the genes that cause sarcomas. The ISKS is a multinational study led from Australia, with partners in the US, Europe and India, and aims to recruit over 3000 families affected by sarcoma.
Fractures And Bisphosphonates: Reviving Osteoporosis Treatment Uptake By Identifying The Genetic, Material, And Microstructural Risk Factors Of Atypical Femur Fractures.
Funder
National Health and Medical Research Council
Funding Amount
$1,053,094.00
Summary
Atypical femoral fractures (AFF) are uncommon, but catastrophic, complications of antiresorptive osteoporosis treatments including bisphosphonates. We will identify patients at risk of AFF by determining changes in their bone structure and quality, and identifying genes that increase the risk of these fractures. In this way, cheap and effective antiresorptive treatments can be targeted to patients at the lowest risk of AFF and alternative treatments to those at highest risk.