Duchenne muscular dystrophy (DMD) is a severe inherited muscular dystrophy that causes progressive muscle degeneration which eventually leads to loss of the ability to use muscles and death, and every year tens thousands of children are born afflicted with the disease. It is caused by mutations in the DMD gene that encodes dystrophin, a protein … Continue reading Progress towards a cure for Duchenne Muscular Dystrophy
Tag: PTC124
A pig model of cystic fibrosis
Cystic fibrosis is one of the most commonly inherited diseases, affecting about one in every four thousand children born in the USA, and is caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. The CFTR gene produces a channel that allows the transport of chloride ions across membranes in the body, and … Continue reading A pig model of cystic fibrosis