Researchers develop a single genome-editing strategy to treat multiple disorders caused by nonsense mutations, promising efficient and cost-effective therapies.

Fast functional testing of genetic variants, from newborn genomes to disease models like zebrafish, is transforming ambiguous DNA findings into confident, real‑time treatment decisions.

Researchers have developed a single genome-editing strategy, known as PERT, that could potentially treat various diseases caused by nonsense mutations.

PTC Therapeutics announced it will withdraw the ataluren NDA for nmDMD, citing FDA concerns regarding the evidence of the agent's effectiveness.

From infancy and usually for life, some families suffer from broken hair due to a congenital form of hair loss called monilethrix. Researchers at the University Hospital Bonn and the University of ...

PTC Therapeutics withdrew its New Drug Application (NDA) resubmission for Translarna (ataluren) in nonsense mutation Duchenne muscular dystrophy (nmDMD) following feedback from FDA indicating that the ...

From infancy and usually for life, some families suffer from broken hair due to a congenital form of hair loss called monilethrix. Researchers at have now identified causative mutations in another ...

An Ice Age double burial in Italy has yielded a stunning genetic revelation. DNA from a mother and daughter who lived over 12,000 years ago shows that the younger had a rare inherited growth disorder, ...

Some genetic mutations that are expected to completely stop a gene from working surprisingly cause only mild or even no symptoms. Researchers in previous studies have discovered one reason why: cells ...