Defective repair of neuronal activity-induced DNA double strand breaks: A novel pathogenic mechanism for neurodegeneration in ataxia-telangiectasia

Funding Activity

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Funded Activity Summary

The reason for degeneration of the hindbrain in patients with Ataxia-telangiectasia is unknown. Firing of neurons leads to breaks in the DNA that are normally repaired by ATM, the gene defective in Ataxia-telangiectasia, and failure to reset the system likely leads to abnormal gene expression and cell death. Here we use neuronal cell types derived from patient stem cells to elucidate how this novel disease mechanism may cause hindbrain degeneration and to test drugs that can overcome this.

Funded Activity Details

Start Date: 01-01-2018

End Date: 01-01-2020

Funding Scheme: Project Grants

Funding Amount: $570,821.00

Funder: National Health and Medical Research Council

Research Topics

ANZSRC Field of Research (FoR)

Cell Development, Proliferation and Death

ANZSRC Socio-Economic Objective (SEO)

There are no SEO codes available for this funding activity

Other Keywords

DNA damage | DNA repair | ataxia telangiectasia | neuronal cell death | stem cells