ATM at the crossroads of DNA damage, ageing and cerebellar degeneration
Duration:
January 2017–January 2019
Project Summary
Ataxia-Telangiectasia (A-T) is caused by mutations in the ATM kinase, a protein involved in DNA break repair and oxidative stress regulation. We have generated iPSC from human patients with A-T to study the degeneration of the hindbrain in this disease. We use CRISPR-Cas9 genome editing tools to correct and introduce mutations in ATM in IPSC and multi-omics and advanced imaging technologies to probe the underlying molecular processes.
Research Group
Keywords
iPSC, Ataxia-Telangiectasia, DNA damage, ATM, differentiation, Ageing, reporters, CRISPR
Student Projects
Neuronal activity dependent DNA DSBs, a novel pathogenic mechanism for A-T
