Neurologic effects of mutational load in MELAS Syndrome

Funding Activity

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Funded Activity Summary

This project will use a new stem cell model to discover what happens to brain cells in patients with the MELAS 3243A>G mutation, a common genetic mutation found in 1-500 Australians. Brain cells will be grown from our stem cell model and used to find out how this mutation causes problems in the affected brain cells. We will find out what happens to the brain when the amount of mutation is reduced in vitro. By understanding what happens, we will be able to design new treatments for this disorder.

Funded Activity Details

Start Date: 01-01-2009

End Date: 01-01-2011

Funding Scheme: NHMRC Project Grants

Funding Amount: $505,786.00

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

Mitochondrial disease | Mitochondrial genetics | brain | mitochondria | mitochondrial DNA | mitochondrial diseases: infant, child and adult | mitochondrial encephalomyopathies | mutational analysis