Identification And Characterisation Of Genes Causing Autosomal Dominant Nocturnal Frontal Lobe Epilepsy (ADNFLE) And Related Phenotypes
Funder
National Health and Medical Research Council
Funding Amount
$376,640.00
Summary
Epilepsy affects approximately 2% of the population at some stage of their lives. We have recently identified two new genes involved in the development of a type of epilepsy known as ADNFLE. We aim to identify further epilepsy genes by sequencing ADNFLE patients who do not yet have identified mutations. We also aim to identify the genes interacting with the genes we have identified, increasing our understanding of the cellular networks involved in the development of epilepsy.
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.