Defective Repair Of Neuronal Activity-induced DNA Double Strand Breaks: A Novel Pathogenic Mechanism For Neurodegeneration In Ataxia-telangiectasia
Funder
National Health and Medical Research Council
Funding Amount
$570,821.00
Summary
The reason for degeneration of the hindbrain in patients with Ataxia-telangiectasia is unknown. Firing of neurons leads to breaks in the DNA that are normally repaired by ATM, the gene defective in Ataxia-telangiectasia, and failure to reset the system likely leads to abnormal gene expression and cell death. Here we use neuronal cell types derived from patient stem cells to elucidate how this novel disease mechanism may cause hindbrain degeneration and to test drugs that can overcome this.
DNA damage response pathways play important roles in preventing the onset of cancer and regulating the clinical response to chemotherapeutics, and some of the relevant proteins have additional functions during normal development. This fellowship will study new a human protein with key roles in the formation of the lung, and its roles in preventing devastating consequences of normal oxidative damage to DNA, as well as additional fundamental mechanisms involved in preventing genome mutations.
Reprogramming Of Ataxia Telangiectasia Fibroblasts To Generate IPS Cells
Funder
National Health and Medical Research Council
Funding Amount
$601,386.00
Summary
Ataxia telangiectasia (A-T) is a human genetic disorder characterised by immunodeficiency, cancer predisposition and neurodegeneration. The aim of this project is to generate adult stem cells from A-T patient as a model system to investigate the nature of the nervous system defect in this disorder. These adult stem cells will be employed to produce neuronal cells which will be a resource for screening for therapeutic compounds to treat A-T patients.
I am a molecular and cellular biologist with particular interest in understanding the regulation of DNA damage surveillance pathway and its role in the maintenance of genome stability.
As women age, the quality of their eggs decline and their chance of having a healthy baby plummets. The accumulation of DNA damage within the egg, and the reduced ability to repair this damage, may be one cause of compromised reproductive success in older women. This project will investigate the ability of eggs to repair DNA damage during maternal aging and will explore the importance of DNA repair to fertility and the transmission of high quality genetic material to their offspring.
Examining The Importance Of DNA Damage Repair For Oocyte Quality, Female Fertility And Offspring Health
Funder
National Health and Medical Research Council
Funding Amount
$318,768.00
Summary
As women age, the quality of their eggs decline and their chance of having a healthy baby plummets. The accumulation of DNA damage within the egg, and the reduced ability to repair this damage, may be one cause of compromised reproductive success in older women. This project will investigate the ability of eggs to repair DNA damage during maternal aging and will explore the importance of DNA repair to fertility and the transmission of high quality genetic material to their offspring.
Application Of New Technologies And Methods In Nutrition Research – The Example Of Phenotypic Flexibility
Funder
National Health and Medical Research Council
Funding Amount
$210,823.00
Summary
The aim of the Nutritech project is to develop better diagnostics of the effect of foods and dietary supplements on the health of an individual. NutriTech will develop new analytical technologies to comprehensively investigate the diet-health interrelationship and critically assess their usefulness for the future of nutrition research. A new automated method for measuring the effect of diet on multiple measures of DNA damage and nutrients in single cells will be developed at CSIRO.