GAA activity

New GAA Mutations ID’d as Cause of Late-onset Disease

Four new mutations in the GAA gene have been identified in a group of people with late-onset Pompe disease (LOPD), according to a study in Spain. The study “Genotype–phenotype correlation of 17 cases of Pompe disease in Spanish patients and identification of 4 novel GAA variants” was published in the Orphanet…

Novel Mouse Model of Pompe Shows Potential of New Gene Therapy

Scientists have created a new mouse model of Pompe disease that displays the severe respiratory impairments experienced by many patients but were never observed in other animal models of the disorder. Using this more stringent model, investigators also demonstrated the therapeutic potential of a new form of gene…