Epigenetic reprogramming · Glaucoma · First-in-human
Life Biosciences reports first-in-human data for ER-100 partial epigenetic reprogramming in glaucoma
Oct 8, 2026. A single intravitreal dose of ER-100 (Dose Level 1, 2×10¹¹ vg; OSK genes switched on with daily oral doxycycline) was well tolerated through Day 56 in 3 participants with open-angle glaucoma, with preliminary visual-field improvement signals in 2. The DSMB recommended escalating to Dose Level 2 (6×10¹¹ vg); the Phase 1 continues.
Caveat: Company-reported interim Phase 1 data in 3 patients, short follow-up, not peer-reviewed; the trial is designed for safety, not efficacy.
GlobeNewswire →
AI · Genomics · Rare disease
Illumina releases SpliceAI2 to flag disease-relevant splice variants
Oct 8, 2026. Illumina says SpliceAI2 found 17% more disease-relevant splice variants than other splicing models in Genomics England rare-disease data, and improved splice-site usage quantification by 34% vs the next-best model on GTEx matched WGS/RNA data. It joins PromoterAI and PrimateAI-3D for variant-effect interpretation, including VUS resolution.
Caveat: Company-reported results from a preprint; research-use tool, not a validated clinical diagnostic.
Illumina press release →
Gene therapy · Hearing loss · OTOF
Cincinnati Children’s reports OTOF gene therapy restoring hearing in children with inherited deafness
Oct 8, 2026. Regeneron’s dual-AAV1 OTOF gene therapy (DB-OTO; Otarmeni, lunsotogene parvec-cwha per the release) was infused into the cochlea of a 3-year-old with profound OTOF-related deafness; he detected sounds within four weeks and now hears in the normal range. Per the release, 9 of the first 12 study participants could hear down to 70 dB or better by 24 weeks. Biallelic OTOF variants account for about 1% of congenital deafness.
Caveat: Hospital release built around individual patient stories; applies only to molecularly confirmed biallelic OTOF hearing loss with preserved outer hair cell function.
PR Newswire (Cincinnati Children’s) →
Aging biology · Lipidomics · Nature Aging
Longer lipids mark aging and constrain lifespan
Published Oct 6, 2026. Cross-species, multi-tissue lipidomics (mice, C. elegans, Drosophila, humans) found lengthening of lipid acyl chains is a conserved hallmark of aging; similar lengthening appears in progressing human heart disease, and dietary restriction shortened cardiac lipids in mice. Knocking down the lipid remodeler Plb1 in worms reversed elongation and extended lifespan; human genetic analyses support a causal role in frailty.
Caveat: Lifespan extension shown in worms only; no human intervention data.
Nature Aging →
Gene therapy · Muscular dystrophy · Preclinical
Split-intein dual-AAV gene therapy restores full-length dysferlin in LGMDR2 models
Oct 8, 2026. Children’s National and University of Washington researchers split the ~6.2 kb DYSF gene across two muscle-targeted AAV vectors (AAVMYO1) and used split inteins to rejoin the protein in muscle cells. Systemic delivery produced full-length dysferlin across muscle groups, improved strength and force, and reduced fibrosis and fat even in advanced-disease models, outperforming a homologous-recombination dual-AAV approach.
Caveat: Preclinical only; more work needed before clinical testing.
Children’s National Innovation District →
