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.
Pathophysiology And Therapeutics Of Lipoprotein Disorders In Humans
Funder
National Health and Medical Research Council
Funding Amount
$451,716.00
Summary
Lipid disorder is the major casual factor that contributes to the development of cardiovascular disease, the leading cause of death in Australia. My research has provided new knowledge that has significant impact upon the treatment strategy of lipid disorder and cardiovascular risk. My vision for the next four years is to develop a comprehensive program in understanding lipid transport and translating the knowledge into clinical practice.
Genes, Biology And Environment In The Development Of Substance Use And Mental Health Disorders
Funder
National Health and Medical Research Council
Funding Amount
$475,910.00
Summary
Substance use and mental health disorders are major public health problems which cause long-term disabilities, poor health and early mortality. Addressing these problems requires a better understanding of the genetic, biological and environmental factors leading to these disorders. This research program represents a unique opportunity to increase our knowledge of the origins and mechanisms behind these disorders and significantly contribute to improved substance use and mental health prevention ....Substance use and mental health disorders are major public health problems which cause long-term disabilities, poor health and early mortality. Addressing these problems requires a better understanding of the genetic, biological and environmental factors leading to these disorders. This research program represents a unique opportunity to increase our knowledge of the origins and mechanisms behind these disorders and significantly contribute to improved substance use and mental health prevention policies and programs.Read moreRead less
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
Understanding The Etiology Of Psychiatric Disorders Through Whole Genome Analyses
Funder
National Health and Medical Research Council
Funding Amount
$470,144.00
Summary
Psychiatric disorders exert a huge social and economic burden on society. In recent years, large genetic studies have led to important new insights into these disorders. Major new human genomics resources will soon become available. My research will take advantage of these datasets to investigate the genetic basis of key epidemiological features of psychiatric disorders, including risk due to parental age and sex-biased prevalence, and to identify novel risk genes for schizophrenia and autism.
Investigating Biological And Genetic Risk Factors For Autism Spectrum Disorders
Funder
National Health and Medical Research Council
Funding Amount
$394,264.00
Summary
Autism Spectrum Disorder (ASD) is a debilitating developmental disorder affecting around 1% of Australians. This research involves a series of cohesive studies utilising internationally unique population samples, to investigate the relationship between increased prenatal androgen exposure, enlarged head circumference, ASD behavioural traits, and genetic variants. This research aims to reveal new information about the biological and genetic mechanisms underpinning ASD.
Advancing The Diagnosis And Treatment Of Inherited Muscle Disorders
Funder
National Health and Medical Research Council
Funding Amount
$408,388.00
Summary
Inherited myopathies collectively affect ~1 in 1000 people, cause life-long disability and often shortened life. This fellowship addresses two key areas of need. 1. New gene discovery for the inherited myopathies using the latest genetic techniques and 2. developing therapies. I will test two recently developed drugs as potential treatments for tropomyosin myopathies and investigate key areas of disease mechanism for tropomyosin and RYR1 myopathies to identify new therapeutic targets.
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.