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GenSep estimates genetic separability between disease subtypes

A medRxiv preprint introduces GenSep, a framework that estimates how distinct disease subtypes could be using genetic information and compares that benchmark with polygenic risk scores. Across 18 subtype pairs, the authors report that current scores captured a small share of the estimated genetic separation.

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Preprint reports single ASO correction of multiple Alport variants in cells

A medRxiv preprint maps a COL4A5 intronic mutation hotspot and reports that one antisense oligonucleotide restored normal RNA splicing and collagen expression for multiple variants in patient-derived cells. The work is a preclinical study, with no treatment of patients reported.