Improving the phenotypic severity of intellectual disability and seizures caused by expanded polyalanine tract mutations in the ARX homeobox transcription factor.

Funding Activity

Website
http://purl.org/au-research/grants/nhmrc/GNT1099538

Funding Status
Closed

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Funded Activity 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.

Funded Activity Details

Start Date: 01-01-2016

End Date: 01-01-2019

Funding Scheme: Project Grants

Funding Amount: $683,622.00

Funder: National Health and Medical Research Council

Research Topics

ANZSRC Field of Research (FoR)

Neurogenetics

ANZSRC Socio-Economic Objective (SEO)

There are no SEO codes available for this funding activity

Other Keywords

homeobox genes | intellectual disability | mouse models | seizures | treatment evaluation

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