Investigating the pathogenic mechanism of mutations in IQSEC2 causing non-syndromic intellectual disability.

Funding Activity

Website
http://purl.org/au-research/grants/nhmrc/1006586

Funding Status
Closed

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Funded Activity 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.

Funded Activity Details

Start Date: 01-01-2011

End Date: 01-01-2013

Funding Scheme: NHMRC Project Grants

Funding Amount: $449,016.00

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

X-linked genetic disorders | autism spectrum disorders | intellectual disability | mutation analysis | mutation screening | neurogenetics | neuronal plasticity | phenotype-genotype correlation | seizures

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