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.
Massive Parallel Sequencing In The Genetics Of Epilepsy
Funder
National Health and Medical Research Council
Funding Amount
$451,716.00
Summary
Epilepsy is a serious disorder which affects approximately 2% of the population at some stage in their life and around 30% of patients do not gain adequate control of their seizures with medications presently available. Approximately 70% of epilepsy in inherited and so far the majority of the genetic causes are yet to be discovered. My group aims to identify new epilepsy genes. This leads to improved diagnosis, treatment and counseling for patients and increased understanding of the biological m ....Epilepsy is a serious disorder which affects approximately 2% of the population at some stage in their life and around 30% of patients do not gain adequate control of their seizures with medications presently available. Approximately 70% of epilepsy in inherited and so far the majority of the genetic causes are yet to be discovered. My group aims to identify new epilepsy genes. This leads to improved diagnosis, treatment and counseling for patients and increased understanding of the biological mechanisms underlying seizures.Read moreRead less
LINEs Of Mutagenesis, Selection And Evolution In Ovarian Cancer And Chemoresistance
Funder
National Health and Medical Research Council
Funding Amount
$425,048.00
Summary
L1 elements are powerful mutagens encoded within the human genome that becomes active in epithelial tumours. I will define the broad effects of L1 elements on the evolution of chemoresistance, focusing on ovarian cancer as a model system. Ovarian cancer is characterised by a poor 5 year survival rate of ~40% with most tumours developing resistance. Understanding the impacts of L1 on this evolution will inform the development and selection of more effective treatments for ovarian cancer.
Proteomic Approaches To Explore The Pathogenesis And Secretomes Of Parasitic Flukes Of Humans
Funder
National Health and Medical Research Council
Funding Amount
$415,320.00
Summary
Ten percent of the human population are at risk of infection with liver, blood and lung flukes. These parasites cause considerable human morbidity and mortality including a strong association with cancer of the bile ducts. Current control efforts rely on drugs, but, reinfection and resistance are a problem. This research is aimed at understanding how these parasites cause disease (particularly how a parasite causes cancer) and the development of vaccines and new drugs.
Novel Epigenetic And Molecular Determinants Of Gastric Cancer Initation And Progression
Funder
National Health and Medical Research Council
Funding Amount
$432,909.00
Summary
Over one million deaths from stomach cancer occur annually. This often fatal disease can be caused by infection with the bacterium H. pylori. I am a molecular biologist seeking to understand how inflammation caused by H. pylori drives a genetic signature which can be used to predict stomach cancer risk. I will also study how a new family of stomach proteins can prevent tumour growth. My research aims to lead new initiatives for early detection and treatment of stomach cancer.
Enabling Personalised Risk Assessment For Colorectal Cancer
Funder
National Health and Medical Research Council
Funding Amount
$431,000.00
Summary
Bowel cancer screening will be most effective in disease prevention if it is applied proportionately to individual person's risk. Risk-based screening requires a risk calculator to assess personal risk. By utilising existing large, international datasets, I will identify the risk factors specific for different bowel cancer types and incorporate them to upgrade the prediction model that I have developed. This will achieve more accurate risk prediction to enable personalised risk-based screening.
The proposal builds on innovative technologies patented and published by my group. The project has two specific objectives: 1) to deliver the new generation of intelligent biomedical devices that have the capacity to control infections, inflammation and foreign body response; and 2) to develop a novel, non-invasive and affordable point of care diagnostic technology for early detection of chronic kidney diseases, and kidney and bladder cancers that is much needed in this space of healthcare.