Improving The Phenotypic Severity Of Intellectual Disability And Seizures Caused By Expanded Polyalanine Tract Mutations In The ARX Homeobox Transcription Factor.
Funder
National Health and Medical Research Council
Funding Amount
$683,622.00
Summary
Intellectual disability is frequent in the population, with as many as 1 in every 50 people in the world directly affected. ARX is a gene mutated in X chromosome-linked intellectual disability and seizures. Our study will comprehensively address the basis for improvements to disease outcomes following treatment with steriod horomones in mice modelling these mutations. We will also address the mechanism contributing to disturbed protein function due to these expanded polyalanine tract mutations.
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.
Investigating The Pathogenic Mechanism Of Mutations In IQSEC2 Causing Non-syndromic Intellectual Disability.
Funder
National Health and Medical Research Council
Funding Amount
$449,016.00
Summary
Intellectual disability is frequent in the population, as many as 1 in every 50 people in the world affected. Mutations in IQSEC2, an X-chromosome gene, cause intellectual disability. We will screen 1000 families with this disability for mutations in IQSEC2, building the picture of disease symptoms, contributing to informed genetic counselling. We will investigate functional impacts of these mutations in neuronal cultures, increasing our understanding of the causes of intellectual disability.
Investigating The Pathogenic Mechanisms Of Mutations In The ARX Homeobox Transcription Factor
Funder
National Health and Medical Research Council
Funding Amount
$596,222.00
Summary
Intellectual disability is frequent in the population with as many as 1 in every 50 people in the world directly affected. The cost to Australia of intellectual disability is estimated at $14 billion annually. ARX is one of the most frequent genes mutated in X chromosome linked intellectual disability. Our study will specifically address the functional impact of these mutations using cell models relevant to the brain to better understand the pathways and networks required for normal cognition.