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.
RNA-based Expanded Repeat Pathogenic Pathway In Neurodegenerative Diseases
Funder
National Health and Medical Research Council
Funding Amount
$595,153.00
Summary
Many important human genetic diseases (incl Huntington’s Disease) are due to a common mutation mechanism with some similarities in clinical outcome (late in life nerve cell loss). For these diseases it is still not known what mechanism is responsible for causing the disease. This is essential in order to delay onset, slow progression or effect cure. We will test a mechanism for disease pathology that we have identified in a simple model organism and seen evidence of its activity in human disease