Tag

Snibcps

All articles tagged with #snibcps

Probes Open Into Gene-Editing Paper After 6-Year-Old’s Death
science2 hours ago

Probes Open Into Gene-Editing Paper After 6-Year-Old’s Death

Nature is reviewing concerns about a February paper from Shanghai Jiao Tong University describing preclinical gene-editing work for SNIBCPS after a 6-year-old girl died from an immune reaction to the therapy; the death and the family’s funding were not disclosed in the manuscript, prompting an Editors’ Note and an investigation by the university. The case has drawn international media attention and ongoing scrutiny of the study’s data and disclosures.

Base editing reverses CHD3-linked neurodevelopmental defects in mice
science5 months ago

Base editing reverses CHD3-linked neurodevelopmental defects in mice

Researchers created a humanized CHD3 R1025W mouse model of SNIBCPS and used a TadA-embedded adenine base editor delivered by dual AAVs to correct the pathogenic A•T base pair in the brain, restoring CHD3 protein levels and rescuing social, cognitive, and motor deficits; supplementary nonhuman primate work showed widespread neuronal transduction, supporting translational potential for CHD3-related neurodevelopmental disorders.