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Novel Gene Identification And Characterisation In Epilepsy.
Funder
National Health and Medical Research Council
Funding Amount
$303,964.00
Summary
Epilepsy is a serious neurological disorder affecting up to 5% of the population at some point in their lives. Approximately 70% cases of epilepsy are genetic, but very few of the genes involved have been identified. This project will use state-of-the-art techniques to identify genetic mutations causing an inherited form epilepsy affecting infants. This research is expected to reveal new gene families involved in the genesis of epilepsy and thus new targets for the development of treatments.
Pre-clinical Evaluation Of The LSD1 Inhibitor HCI-2509: Defining The Biomarkers Of Sensitivity And The Mechanisms Of Resistance
Funder
National Health and Medical Research Council
Funding Amount
$340,068.00
Summary
Despite aggressive multi-modal treatment strategies, limited progress in the treatment of Ewing sarcoma (paediatric bone malignancy), has been achieved over the past 30 years. As such, the advent of novel and targeted therapeutics with favourable efficacy/toxicity profiles are eagerly awaited. This proposal will investigate the therapeutic utility of LSD1 inhibition as a treatment for Ewing sarcoma and the underlying mechanisms of sensitivity/resistance to this unique agent.
Using Next-generation Sequencing Technology To Explore The Genetic Basis Of Human Disease
Funder
National Health and Medical Research Council
Funding Amount
$278,463.00
Summary
This project will use powerful new DNA sequencing technologies to analyse the genes that underlie common diseases such as diabetes, arthritis and cancer in a large and diverse set of human DNA samples, and to find mutations in Australian patients suffering from rare genetic muscle disorders. This approach will provide novel information about the evolutionary origins and genetic basis of common disease and identify new genes that cause inherited muscle diseases.
Physiologic And Aberrant DNA Recombination In B Lymphocytes
Funder
National Health and Medical Research Council
Funding Amount
$408,768.00
Summary
B cells produce antibody which is critical to fight infection. In order to perform this function, antibody genes must first be modified by immune enzymes. However, abnormal DNA attack by these enzymes outside of antibody genes can result in B cell cancer. How the immune system detects and destroys cancerous B cells is poorly understood. This research will provide insight into these processes, and in doing so will further our understanding of how B cell cancers develop and how they are destroyed.