Identification And Characterisation Of Amplified Oncogenes In Liposarcoma
Funder
National Health and Medical Research Council
Funding Amount
$354,293.00
Summary
Liposarcoma is the commonest single subtype of sarcomas, a group of cancers that disproportionately affects the young. The overall mortality for liposarcomas is approximately 50%. Chemotherapy may temporarily controlling disease in under a third of patients, but is toxic and cannot achieve cure. We have identified new potential therapeutic targets, and aim to develop these in the clinic.
Molecular Profiling Of Sarcomas To Enable Clinical Prediction And Elucidate Molecular Pathogenesis
Funder
National Health and Medical Research Council
Funding Amount
$441,000.00
Summary
Sarcomas are uncommon cancers which affect the young, with a 50% mortality. Treatment involves an expert multidisciplinary approach, and even when effective often entails long-term loss of quality of life. Most sarcomas are treated with a combination of radiotherapy and surgery, which improves survival significantly compared to surgery alone. Radiotherapy does not help all patients, has side-effects and is expensive and time consuming. It would be useful to be able to identify patients who will ....Sarcomas are uncommon cancers which affect the young, with a 50% mortality. Treatment involves an expert multidisciplinary approach, and even when effective often entails long-term loss of quality of life. Most sarcomas are treated with a combination of radiotherapy and surgery, which improves survival significantly compared to surgery alone. Radiotherapy does not help all patients, has side-effects and is expensive and time consuming. It would be useful to be able to identify patients who will not benefit from radiotherapy, to minimise unnecessary harm from treatment and offer alternate more effective therapies. Unfortunately, we cannot yet distinguish which tumours will respond and which will not. Moreover, the uderlying causes of sarcoma are poorly understood. This project has two aims: first to make our current therapies more effective by targeting those who will not benefit from standard treatment; and second to better understand the causes of sarcoma, in order to develop better treatment. Microarrays enable the simultaneous study of thousands of genes, which when combined form a unique portrait of each tumour. Our unit, one of the largest sarcoma sevices in Australia, has access to large numbers of tumour samples, with excellent basic science support. It is now possible to ask what the molecular 'portrait' is of sarcomas which are responsive to radiotherapy, using tiny amounts of tumour material which can be obtained before treatment starts. We also hope to identify the molecular basis of sarcomas by finding the key genes whose inactivation is central to the development of this form of cancer. Such genes can then form the basis of targeted therapy. This approach will lay a solid foundation for future research into sarcomas, and has the potential to reduce unnecessary cost and suffering patients experience from treatments which are unlikely to be effective.Read moreRead less
Dnmt3L Haploinsufficent Retrotransposition Leads To Genetic Hypermutation
Funder
National Health and Medical Research Council
Funding Amount
$613,982.00
Summary
This project aims to demonstrate the critical importance of DNA methylation as a cause of mutation and thus genetic diseases, many instances of sterility and low fertility, and cancers. Because DNA methylation can be partially determined by substrate availability, a demonstration of the importance of DNA methylation vis a vis mutation rates will refine our understanding of the impact of metabolism and nutrition on mutation rate as a cause of human disease.
Investigating A Novel Genetic Regulator Of Cardiac Rhythm
Funder
National Health and Medical Research Council
Funding Amount
$557,101.00
Summary
Cardiac arrhythmias affect approximately 5% of the population and have a high association with sudden death. Whilst the cause of cardiac arrhythmia is complex, we know that genetic mutations play a role however we don't know all the genes important for cardiac rhythm. It is imperative that we identify all the genes in this process, so we can determine which mutations cause arrhythmia. We have identified a new gene that causes cardiac arrhythmia and seek to understand how it functions.
Systemic lupus erythematosus (SLE) is a condition which causes inflammation in many different organs and can lead to significant suffering and death. Glucocorticoids (GC) are very good at controlling inflammation, however they have severe side effects such as diabetes and bone thinning, and cannot be used long term. This project aims to investigate a protein “GILZ” in patients with SLE. GILZ may have similar anti-inflammatory effects to GC but may not be associated with the same side effects.