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.
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.
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
Neurodevelopmental Risk Factors For Depression From Childhood To Early Adulthood
Funder
National Health and Medical Research Council
Funding Amount
$470,144.00
Summary
To understand who is at risk for depression, we need to understand how both the environment and biological factors promote risk at specific times in the life cycle. This research project will examine such risk factors in different phases of life (from in utero to early adulthood) using a developmental framework. The results of this research will provide a clearer basis for the design of prevention strategies that target individuals, their families and/or broader environmental factors.
Identification Of Novel Biomarkers And Risk Factors For Cardiovascular Disease
Funder
National Health and Medical Research Council
Funding Amount
$425,048.00
Summary
Heart disease is the leading cause of death in Australia. In this fellowship, I will investigate different markers in the blood and risk factors that can help to identify people at an increased risk of developing heart disease. The ultimate aim of this project is to identify blood markers or factors that can be used to identify and treat people at the early stages of heart disease, thus reducing the death rate and associated economic burden of the disease.
Novel Genetic And Environmental Modifiers Of The Risk Of Iron Overload-related Disease In HFE-associated Hereditary Haemochromatosis In Cohort Of Middle-aged Australians
Funder
National Health and Medical Research Council
Funding Amount
$451,716.00
Summary
People who carry mutations in the HFE gene are pre-disposed to body iron overload but not all of them developed subsequent disease. According to the investigators of the “HealthIron” study in Melbourne, only 28% of men and 1% of women with faulty HFE genes go on to develop disease. This study has recruited more than 1,000 people from the community, and will determine which environmental and genetic risk factors stop people with iron overload from getting symptoms of disease.
Allergies And Chronic Respiratory Diseases: Causes, Biological Pathways And Interventions
Funder
National Health and Medical Research Council
Funding Amount
$420,872.00
Summary
Allergies and chronic respiratory diseases are major causes of illness and death in Australia. Worryingly there are still many gaps in knowledge on how best to prevent and manage these diseases. The proposed program will investigate these questions and provide evidence to guide health policy and clinical management. As this program is built on state-of the-art methods and technology, these original Australian findings will be of great importance internationally.