Tag Archives: mutation

Viltepso (viltolarsen) Injection Granted Accelerated Approval for Rare Duchenne Muscular Dystrophy Mutation

News Consumer News Viltepso (viltolarsen) Injection Granted Accelerated Approval for Rare Duchenne Muscular Dystrophy Mutation THURSDAY, Aug. 13, 2020 — Accelerated approval has been granted to Viltepso (viltolarsen) injection for treatment of patients with Duchenne muscular dystrophy (DMD) and a mutation of the DMD gene amenable to exon 53 skipping, the U.S. Food and Drug… Read More »

How protein mutation is involved in rare brain development disorder

Rearing its head in infancy, Christianson Syndrome is a rare disorder whose symptoms include intellectual disability, seizures and difficulty standing or walking. Although it is becoming increasingly diagnosed, with little being known about the neural mechanism behind the disease, therapeutic options for patients remain limited. Now, researchers at McGill University focusing on the intellectual disability… Read More »

Sixth finger not a useless mutation, scientists say after brain scans of mother and son

Tying your shoes with one hand or having an intense advantage in video games might be possible if you have six fingers, according to researchers. One new study took a closer look at polydactyly, when someone is born with more than five fingers on each hand and five toes on each foot. Researchers say people… Read More »