Prime editing corrects a childhood genetic disease in mice
 Alternating hemiplegia of childhood (AHC) is a rare, one-in-a-million genetic disease that affects kids. Most cases are…
Breakthrough gene therapy reverses genetic deafness across age groups
Using gene therapy to treat hereditary deafness is safe and effective in both children and adults, according to…
Molecular genetics of J-domain protein-related chaperonopathies in skeletal muscle
Kampinga HH, Andreasson C, Barducci A, Cheetham ME, Cyr D, Emanuelsson C, et al. Function, evolution, and structure…
Sequencing validates deep learning models for EHR-based detection of Noonan syndrome in pediatric patients
Cohort characteristics and model risk score distribution The study cohort comprised 92,493 patients enrolled in the DT Biobank…
Sarepta tells FDA it won’t halt shipments of muscular dystrophy therapy despite patient deaths
WASHINGTON (AP) — Drugmaker Sarepta Therapeutics said late Friday it won’t comply with a request from the Food…
Rescued by fat bubbles: Scientists treat rare genetic disease with designer molecule | Lifestyle
Tiny fat bubbles carrying gene therapy have successfully repaired DNA in the lungs and liver of animals with…
Nanoscope Therapeutics Puts Rolling BLA for Retinitis Pigmentosa Gene Therapy MCO-010 in Front of FDA
Nanoscope Therapeutics has submitted a rolling biologics license application (BLA) to the FDA for MCO-010 (sonpiretigene isteparvovec), an…