In February, Bernadette Liemberger successfully completed her doctoral thesis „Antisense RNA-mediated improvement of SMaRT therapy for KRT14 correction“. The aim of this work was to improve the SMaRT (Spliceosome-Mediated RNA Trans-splicing) technology for the treatment of the generalized severe subtype of EBS. Therefore we used an RNA trans-splicing molecule (RTM) that can correct the majority of known mutations within the Keratin 14 gene. This RTM was combined with short strand nucleic acids, called antisense oligonucleotides, to enhance the efficiency of the correction. Treatment of EBS gen. sev. patient cells with the RTM and selected antisense oligonucleotides showed the expected increase in correction efficiency, as well as a reduction of non-functional Keratin 14 protein. A major part of the obtained results in the course of the project were published 2018 in the International Journal of Molecular Sciences.
