Developing Exon Replacement Gene Therapy To Cure Rett Syndrome: An Innovative Model For Neurodevelopmental Disorders
Funder
National Health and Medical Research Council
Funding Amount
$475,105.00
Summary
There is no cure for neurodevelopmental disorders such as Rett syndrome which is caused by mutations in the MECP2 gene. Gene therapy is ineffective due to the 'Goldilocks' effect where too little, as well as too much expression of MECP2 causes disease. Here a gene editing therapy will be tested in patient cells and mouse model that will maintain the normal cellular expression of MECP2 by cutting out the mutated regions of the gene (exons) and replacing them with repaired copies.
Vascular Changes Are A Key Contributor To And Novel Drug Target For Interferon-alpha Induced Neurological Disease
Funder
National Health and Medical Research Council
Funding Amount
$1,245,401.00
Summary
Type I interferons (IFN-Is) contribute to wide range of neurological diseases including ageing and neurodegeneration. At its extreme IFN-I-mediated neurodegeneration is known as 'interferonopathy'. The mechanisms of how IFN-Is drive disease are unclear, making causal treatment difficult. We have recently uncovered ground-breaking evidence that abnormal blood vessels are a key contributor to the disease. Here, we will investigate novel treatment targets for patients with interferonopathies.