genetics

Biallelic RNU2-2 variants cause a newly characterized neurodevelopmental disorder that researchers estimate accounts for roughly 10 percent of recessive NDD cases with a known genetic cause.

Early-phase data in 81 children with Dravet syndrome showed large seizure reductions and manageable safety issues as a phase 3 trial moves ahead.

Genome-wide analysis of 11,000-year-old remains from the Donghulin site near Beijing has identified a deeply divergent northern East Asian lineage with no match in any previously studied population, offering new evidence that cultural continuity does not guarantee genetic continuity.

Beam Therapeutics' BEAM-302 has achieved the first-ever in-vivo base editing correction of a disease-causing mutation in human patients, reaching therapeutic AAT levels in a Phase 1/2 trial for alpha-1 antitrypsin deficiency. A pivotal Q1 2026 data readout is now imminent.