GENETIC AND FUNCTIONAL CHARACTERISATION OF ERAP1 VARIANTS ASSOCIATED WITH ANKYLOSING SPONDYLITIS.
Funder
National Health and Medical Research Council
Funding Amount
$133,351.00
Summary
Ankylosing Spondylitis is a progressive arthritis which affects the back and causes the back joints to fuse. The project seeks to investigate the role of the ERAP1 protein and the gene which is the blueprint for the ERAP1 protein in causing Ankylosing Spondylitis. This will be through resequencing the gene, investigating the action of the different ERAP1 proteins and the effect of ERAP1 deficiency in mice.
Assessing The Utility Of Circulating Cell-free MicroRNA As Biomarkers For Response In A Variety Of Non Hodgkin Lymphomas
Funder
National Health and Medical Research Council
Funding Amount
$92,159.00
Summary
Non Hodgkin Lymphomas are the most common blood cancer to affect adult Australians. The current strategies for diagnosis, treatment and monitoring of these patients are generic and not tailored to features of particular patientÍs lymphoma or treatment response. We aim to develop a new blood based marker for Lymphoma that can be used to diagnose and monitor NHL patients, to allow treatment to be adjusted according the patients current response to therapy, as indicated by the blood based marker. T
To Improve The Diagnosis Of Limb-girdle Muscular Dystrophy Using New Genetic Techniques Of DNA Sequencing Known As Next Generation Sequencing
Funder
National Health and Medical Research Council
Funding Amount
$101,991.00
Summary
Diagnosis of Limb-girdle muscular dystrophy (LMGD) is complex with only about 50% success rate. New technology, Next Generation Sequencing (NGS) can identify a diagnosis substantially quicker and cheaper than standard methods, however is only available in research. The results of this study will form a core resource that can be augmented in the future to identify rarer forms of LGMD, so that all patients can be provided with a genetic diagnosis.
Use Of Circulating Tumour DNA To Characterise The Mutational Landscape Of Marginal Zone Lymphoma, Monitor Treatment Response And Detect Emergence Of Resistance
Funder
National Health and Medical Research Council
Funding Amount
$128,224.00
Summary
Marginal zone lymphoma (MZL) is a subtype of B-cell non-Hodgkin lymphoma for which the molecular drivers of disease are poorly understood. We hypothesise that circulating tumour DNA may be ideal for characterising the genetic mutations that underpin MZL, monitoring treatment response and detecting emergence of resistance. This non-invasive method of disease monitoring has the potential to transform management of cancers such as MZL, identify new treatment options and improve survival outcomes.
Determining The Genetic Basis Of Skeletal Dysplasias Using Next Generation Sequencing
Funder
National Health and Medical Research Council
Funding Amount
$110,068.00
Summary
Osteoporosis is a common condition in Australia, yet treatment options are still limited. Study of rare genetic bone conditions known collectively as skeletal dysplasias have already led to the development of two new osteoporosis drug treatments. My project aims to identify the causative gene for several skeletal dysplasias, and to determine how these genes are involved in the development and maintenance of bone. This knowledge may then translate into new osteoporosis therapies.
Understanding The Clinical Significance Of Tumour Genomic Architecture And Host Immune Response In Breast Cancer.
Funder
National Health and Medical Research Council
Funding Amount
$94,732.00
Summary
This study uses sophisticated DNA sequencing technologies to help patients and their doctors better understand and treat breast cancer. It also tries to understand how the cancer DNA may change over time, and if this is important to how the cancer is treated. In addition, it looks for a link between the DNA changes in a tumour and the anti-tumour immune response, which may help identify patients that could benefit from immunotherapy in the future.
Establishing The Use Of Bacterial Genomics In Australia
Funder
National Health and Medical Research Council
Funding Amount
$157,669.00
Summary
We propose to establish a set of fully assembled reference genomes through new technologies and methods to analyse data from high throughput genome sequencing of important bacterial pathogens in Australia. We aim to demonstrate the capabilities of genome sequencing in clinical situations by comparing the genomes from clinical bacterial isolates to the established and annotated reference genomes.
Mechanisms Of Gender Differences In Genetic Aortopathy
Funder
National Health and Medical Research Council
Funding Amount
$122,686.00
Summary
This project will investigate the molecular mechanisms that underly the gender differences in phenotypic expression in young adults with genetic aortopathy.
The Importance Of RUNX3 In Preventing Gastrointestinal Diseases And Tumour Metastasis
Funder
National Health and Medical Research Council
Funding Amount
$113,322.00
Summary
Stomach cancer is the second leading cause of cancer-related deaths. It is estimated that in 2010, more than 1 million people will die of stomach cancer with an increase of 19%. Studies have revealed that RUNX3 has the ability to suppress the growth of stomach cancer. However the role of RUNX3 in preventing metastasis is yet unknown. Therefore, an understanding of the factors that govern metastasis will inform the design of effective therapies to prevent mortality which is high for this disease.