Connor J. Kenny

This study develops a small-molecule approach to reduce prion protein by modulating pre-mRNA splicing, achieving ~70% PrP reduction in cells and demonstrating synergistic effects with a Luc7L activator in mice.

The paper identifies two major classes of 5' splice sites regulated by LUC7 proteins in animals and plants, showing conserved function across species.

This study investigates whether somatic mutations in PRNP contribute to sporadic Creutzfeldt-Jakob Disease (sCJD) by sequencing PRNP in 205 sCJD cases and 170 controls, finding no evidence of pathogenic somatic variants.

The paper identifies rare somatic mutations in sporadic ALS and FTD cases, suggesting they contribute to disease and widespread neurodegeneration.

PRDD-seq simultaneously reconstructs cell type, lineage, and birthdate in human brain tissue by analyzing RNA and DNA mutations in single cells.