Functional Significance of MeCP2 Target Genes in the Pathogenesis of Rett Syndrome.

Funding Activity

Website
http://purl.org/au-research/grants/nhmrc/457238

Funding Status
Closed

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Funded Activity Summary

Rett syndrome (RTT) is a devastating progressive disorder affecting motor and intellectual development. It is characterised by normal development for the first 6-12 months of life, followed by developmental regression with the loss of learned purposeful hand function, loss of acquired speech and communicative abilities, sometimes leading to the incorrect diagnosis of autism. It is a genetic disorder and contributes to a substantial proportion of girls with severe mental retardation. In 1999, a gene (called MECP2) was identified which appears to be the cause of RTT in at least 80% of affected girls and women. Now that the gene responsible for many cases of RTT has been found, new questions are being asked. Why are the effects of these mutations restricted to the brain? Which other genes might play a role in the symptoms seen in RTT? The focus of this research project is to examine these 2 questions. Using new research techniques, we have identified genes that are themselves secondarily affected by mutations in the MECP2 gene. We wish to study these genes in more detail, with the aim being to gain a greater understanding of how these genes contribute to the onset of impaired brain function in girls and women with RTT. These insights are essential foundations for the development and evaluation of new and more specific therapies for this as yet incurable disorder.

Funded Activity Details

Start Date: 01-01-2007

End Date: 01-01-2009

Funding Scheme: NHMRC Project Grants

Funding Amount: $476,815.00

Funder: National Health and Medical Research Council

Research Topics

ANZSRC Field of Research (FoR)

Medical Genetics (excl. Cancer Genetics)

ANZSRC Socio-Economic Objective (SEO)

There are no SEO codes available for this funding activity

Other Keywords

X-linked disorder | brain development | disease mechanisms | intellectual disability | methyl-binding proteins | microarray | neurodevelopmental disorders | neuronal metabolism | transcriptional regulation

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