In vivo base editing rescues Hutchinson-Gilford progeria syndrome in mice.

Using the base editor enzyme developed by Liu (GM11865), the authors report that they can “correct the pathogenic HGPS mutation in cultured fibroblasts derived from children with progeria and in a mouse model of HGPS.” Their technique resulted in “87-91% correction of the pathogenic allele, mitigation of the resulting RNA mis-splicing, reduced levels of progerin and correction of the nuclear abnormalities.” Mice treated like this, exhibited “improved vitality and greatly extended median lifespan from 215 to 510 days.” At the end they added that “these findings demonstrate the potential of in vivo base editing as a possible treatment for HGPS and other genetic diseases by directly correcting their root cause.”

Digital facsimile from PubMedCentral at this link. Order of authorship in the original publication: Koblan, Erdos, Wilson....Collins..Liu.

(Thanks to Juan Weiss for this reference and its interpretation.)