Johannes Häberle

This paper demonstrates transient prime editor expression in mice to correct a genetic liver disease, reducing blood phenylalanine levels below the therapeutic threshold.

This study uses base editing to downregulate PTBP1 in neurons of a PD mouse model, rescuing motor symptoms without affecting astrocytes.

The paper describes a minimally invasive method for delivering AAV vectors to pig livers but finds low vector retention and no detectable editing in vivo.

The paper implements RNA-seq in diagnostics for Mendelian diseases, achieving a 16% diagnosis rate in WES-inconclusive cases by detecting aberrant expression, splicing, and mono-allelic expression.