grant

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. [ 2013 - 2015 ]

Also known as: Discovery and validation of new biomarkers for earlier diagnosis, treatment and intervention in children and adults with the abnormal FMR1 gene and learning/behavioural problems including autism.

Funded by National Health and Medical Research Council
Managed by Murdoch Childrens Research Institute
Provided by   National Health and Medical Research Council

Research Grant

[Cite as https://purl.org/au-research/grants/nhmrc/1049299]

Researchers: A/Pr Howard Slater (Principal investigator) ,  Dr David Godler ,  Dr Quang Bui ,  Prof Cheryl Dissanayake ,  Prof David Amor

Brief description 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.

Funding Amount $AUD 670,836.87

Funding Scheme Project Grants

Notes Standard Project Grant

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Subjects
Biological Sciences | Epigenetics (Incl. Genome Methylation and Epigenomics) | Fragile X syndrome | Genetics | autism spectrum disorders | behavioural problems | biomarkers | cognitive impairment | early intervention | epigenetics | molecular diagnostics | newborn screening | population screening |
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