This project, an extension of the previous FFC#3/2019 and proposed by the same research group, aims to use gene editing to restore the function of the CFTR gene by exploiting the neutralizing mutations (capable of neutralizing the effect of the original mutation causing the disease). The splicing mutation 2789+5G>A, one of the 20 most frequent mutations among the 360 identified as a cause of cystic fibrosis (CF), will be repaired through the strategy used in the previous project (FFC#3/2019) and exploiting the new base editing technologies, able to modify the single nucleotide in a targeted way. The therapeutic modifications will be inserted through CRISPR-Cas in cellular models of cystic fibrosis such as bronchial epithelial cells and intestinal organoids derived from person with CF with F508del or 2789 + 5G> A mutations.

XIX Convention FFC Ricerca – download here a brief presentation of the project