Investigating the pathogenic mechanism of mutations in IQSEC2 causing non-syndromic intellectual disability. [ 2011 - 2013 ]

Also known as: IQSEC2 and intellectual diability

Research Grant

[Cite as]

Researchers: A/Pr Cheryl Shoubridge (Principal investigator) ,  Dr Michael Field Prof Robert Harvey

Brief description 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.

Funding Amount $AUD 449,016.19

Funding Scheme NHMRC Project Grants

Notes Standard Project Grant

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