Year 3

This is the third year (last year) progress report. During the first two years of this project, we have already established two Ataxia-telangiectasia (A-T) patient-derived iPSC lines which contain nonsense mutations and splicing mutations, respectively. These two lines are currently used for testing the mutation-targeted therapies with small molecule readthrough (SMRT) compounds and antisense morpholino oligonucleotides (AMOs). In the third year, we have formally published our results from the first two years’ research work in Nature Communications (Lee et al., 2013). In the last year, we continue to make progresses in the characterization of A-T iPSCs and their derived neuronal cells as well as developing the mutation-targeted therapies for neurodegeneration diseases