Characterization of a novel epigenetic boundary and long range epigenetic modifications specific to FMR1 expansion carriers with behavioural and cognitive disorders - implications for earlier diagnosis and treatment.

Funding Activity

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Funded Activity Summary

Fragile X Syndrome (FXS) is the most common form of inherited intellectual disability and autism and is caused by a faulty switch in the gene FMR1. We have discovered new DNA regions important in FXS. The project aims to explain how these new regions regulate the FMR1 gene. This is essential for the discovery and validation of new avenues for earlier diagnosis, treatments and therapies for children and adults with FMR1 disorders and also for informing reproductive decisions.

Funded Activity Details

Start Date: 01-01-2013

End Date: 01-01-2015

Funding Scheme: Project Grants

Funding Amount: $670,836.00

Funder: National Health and Medical Research Council