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.
Dissecting Genetic Variation For Human Complex Diseases And Traits
Funder
National Health and Medical Research Council
Funding Amount
$135,821.00
Summary
Understanding the pattern of inheritance for human common diseases such as cancers, obesity, diabetes and mental illness, is of key importance for disease diagnosis, treatment and prevention. In this project, we will develop statistical methods and software tools to analyse DNA and clinical data to better understand the genetic basis of human common diseases and to predict a person�s risk of developing disease.
Integrating Statistical Imputation Of HLA And KIR Alleles Into Studies Of Disease In Diverse Human Populations
Funder
National Health and Medical Research Council
Funding Amount
$415,218.00
Summary
Immune system genes are strongly implicated in many infectious and autoimmune diseases, as well as cancer. Some of these genes have many possible types due to natural selection in response to pathogens. This variability makes typing these genes very expensive. Developing accurate and inexpensive methods to type these genes is vital in understanding the role they play in susceptibility and progression of disease and will be important for the development of better diagnostic tests and treatments.
Psychosocial Implications Of Genetic Counselling And Testing
Funder
National Health and Medical Research Council
Funding Amount
$443,946.00
Summary
I am a psychologist by background, and my research program focuses on the psychological impact of genetic counselling and testing for adult-onset disorders, in particular cancer susceptibility; psychological adjustment of those at risk for adult-onset disorders; and the design and evaluation of interventions in the genetic counselling setting, in particular the use of decision aids as an innovative means of patient education.