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
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.
Functional Genomics-new Technologies For Gene Discovery And Personalised Medicine
Funder
National Health and Medical Research Council
Funding Amount
$452,122.00
Summary
Disorders of the brain, which affect people of all ages, are one of the largest health, economic and social burdens in the developed world. These conditions are chronic, debilitating and have limited symptomatic treatments available. In general, very little is known about the causes of many brain disorders. This project aims to identify the genes and mechanisms that underlie these diseases to enable the development of diagnostic and treatment programs to help reduce the incidence and severity of ....Disorders of the brain, which affect people of all ages, are one of the largest health, economic and social burdens in the developed world. These conditions are chronic, debilitating and have limited symptomatic treatments available. In general, very little is known about the causes of many brain disorders. This project aims to identify the genes and mechanisms that underlie these diseases to enable the development of diagnostic and treatment programs to help reduce the incidence and severity of disease.Read moreRead less
Vaccine Discovery For Human Mucosal Pathogens: Identifying Novel Vaccine Antigens That Are Stably Expressed During Host Interactions, Using Analysis Of Cell-contact And Phasevarion Mediated Expression Profiles
Funder
National Health and Medical Research Council
Funding Amount
$418,482.00
Summary
The control of several human pathogens depends on vaccine development due to antibiotic resistance and the devastating outcome of infection. This work aims to identify new vaccine targets for diseases including gonorrhoae, ear infections, meningitis and sepsis, based on proteins required for interaction with human cells. Proteins that are randomly switched on and off in these bacteria will also be studied to better understand disease and to rule out variably expressed genes from new vaccines.
Lymphangiogenesis From Development To Disease: Analysis Of SOX18 Function In The Control Of Lymphatic Remodeling
Funder
National Health and Medical Research Council
Funding Amount
$401,361.00
Summary
Cancers are lethal mainly because they spread (metastasise) to other parts of the body via blood vessels and lymphatic ducts. Pilot studies suggest that suppressing the function of a gene, SOX18, reduces tumour metastasis. We now propose to confirm these findings and study this effect in detail, with the ultimate aim of developing new therapies able to complement already existing anti-cancer treatments.
An Integrated Genomic And Epigenomic Approach To Dissect The Aetiology Of Motor Neuron Disease
Funder
National Health and Medical Research Council
Funding Amount
$428,065.00
Summary
Motor neuron disease (MND) is a neurological disease that destroys motor neurons, which control muscle activity, such as walking. It affects people >40 years old and most patients die within 3 years. There is no specific test for its diagnosis and there are no cures. I aim to build an independent research group to discover novel genes and epigenetic marks, and to dissect their biological function in MND. This knowledge is crucial for finding effective diagnosis, treatment and cure for MND.