Oxidation Of Mismatch: A New Concept For Mutation Detection Which Avoides A Separation Method In Mutation Scanning
Funder
National Health and Medical Research Council
Funding Amount
$143,000.00
Summary
Detection of faults (mutations) in genes is expensive but essential for proper genetic health care. Because of the cost of such tests many people are not diagnosed either through diagnostic labs or research of the cost of such tests many people are not diagnosed either through diagnostic labs or research projects. Such research projects are inhibited due to the complexity of the current methods. Current methods are complex and expensive, especially looking for a possible fault, due to what is ca ....Detection of faults (mutations) in genes is expensive but essential for proper genetic health care. Because of the cost of such tests many people are not diagnosed either through diagnostic labs or research of the cost of such tests many people are not diagnosed either through diagnostic labs or research projects. Such research projects are inhibited due to the complexity of the current methods. Current methods are complex and expensive, especially looking for a possible fault, due to what is called a preparation step on complex and expensive equipment. We will develop and commercialise a simpler test because separation is avoided.Read moreRead less
Gene Discovery And Characterisation In The Familial Focal Epilepsies
Funder
National Health and Medical Research Council
Funding Amount
$428,065.00
Summary
Around 2% of people have epilepsy at some time in their lives. A large proportion of cases are thought to have a genetic cause, but genes have not yet been identified for most patients. The aim of this project is to use state-of-the-art genetic methods to identify genetic mutations causing epilepsy and to then study the effects of these mutations to better understand the biological causes of epilepsy. This in turn will lead to better diagnosis of epilepsy and improved treatment for patients.
Analysis Of Circulating Tumour DNA For Mutational Characterisation And Tracking Disease Progression In Multiple Myeloma
Funder
National Health and Medical Research Council
Funding Amount
$908,676.00
Summary
Multiple myeloma is cancer of plasma cells in the bone marrow and presents at multiple sites with dissimilar genetic information (GI) across these sites. Invasive biopsies of multiple sites are required to determine the GI. Cancer cells shed small amounts of DNA into the blood stream and this circulating DNA (ctDNA) contains GI from multiple cancer sites. This project will evaluate the utility of ctDNA to determine GI and to predict treatment response in MM patients.
Synthetic DNA Standards For Clinical Genome Sequencing
Funder
National Health and Medical Research Council
Funding Amount
$870,005.00
Summary
Genome sequencing can diagnose a wide range of mutations that cause human disease. However, errors during sequencing and analysis can lead to incorrect diagnosis. We propose to develop synthetic representations of genetic mutations that are then added to a patient’s DNA sample and act as internal controls throughout the clinical sequencing workflow. These controls improve the accuracy and reliability of mutation detection, resulting in improved diagnosis and better-informed patient care.
Development Of A Novel Biosensor Using Magnetically Amplified Luminescence For The Early Detection Of Cancer
Funder
National Health and Medical Research Council
Funding Amount
$267,500.00
Summary
Cancer is often not detected until it has invaded surrounding tissues and spread to other organs. Current treatment is then often ineffective, and prognosis poor. Early detection of cancer is therefore essential for improved disease management. Such methods must be cheap, non-invasive, and rapid with high sensitivity and specificity. We are investigating a new biosensor technology that satisfies these criteria. This method uses magnetically amplified luminescence for the detection of low levels ....Cancer is often not detected until it has invaded surrounding tissues and spread to other organs. Current treatment is then often ineffective, and prognosis poor. Early detection of cancer is therefore essential for improved disease management. Such methods must be cheap, non-invasive, and rapid with high sensitivity and specificity. We are investigating a new biosensor technology that satisfies these criteria. This method uses magnetically amplified luminescence for the detection of low levels of cancer cells in clinical samples (urine, faeces, blood, biopsy), using telomerase as a marker.Read moreRead less
Cleavage Methods Of Mutation Detection: Improvement And Application In Cardiovascular Disease
Funder
National Health and Medical Research Council
Funding Amount
$1,044,349.00
Summary
Genes contain the information to build our body and keep it operating normally. These genes are inherited from our parents and number around 100,000. Faults in these genes can cause inherited diseases such as cystic fibrosis, cancers and common disorders such as Asthma and diabetes. These genes need detecting so that particular genes can be identified as causing the disease and also so that patients can have their disease properly diagnosed so that proper therapy and information can be given to ....Genes contain the information to build our body and keep it operating normally. These genes are inherited from our parents and number around 100,000. Faults in these genes can cause inherited diseases such as cystic fibrosis, cancers and common disorders such as Asthma and diabetes. These genes need detecting so that particular genes can be identified as causing the disease and also so that patients can have their disease properly diagnosed so that proper therapy and information can be given to the patients. In future similar changes (but changes not causing disease) may be searched for in patients to overcome the side effects of drugs. Our centre specializes in the methods of detecting faults and their application. Two of our methods are being used around the world and one is being sold as simple kit. These methods still have drawbacks and the work proposed is to overcome some of these. We propose to apply our and other methods to faults in genes which have recently been shown to cause diseases of the artery. This is an exciting new development that shows that this disease is similar to cancer. We are fortunate to have attracted Dr Paula Bray from the laboratory which discovered this. This new finding needs to be studied in more detail and may identify life-style factors which cause coronary heart disease. Our studies will also assist in gene therapy when it becomes available.Read moreRead less