DUCHENNE AND THE SEARCH FOR A CURE
OLSON
ON EXON SKIPPING, SINGLECUT CRISPR, AND THE HUMAN EXPERIENCE AT 2.6 MILLION base pairs in size,
DMD is the largest gene in the human body, which, among other things, means there is tremendous opportunity for errors to occur. DMD comprises 79 separate coding regions, called exons, which fit neatly together, end to end, like a puzzle. The gene holds the genetic code needed to produce the protein dystrophin. Dystrophin is essential for muscles to function properly. Duchenne muscular dystrophy is caused by mutations in the DMD gene, which prevent muscle cells from making dystrophin. As a result, the cells become damaged and, over time, are replaced with scar tissue and fat in a process called fibrosis. Duchenne muscular dystrophy affects 1 in every 5,000 boys. Currently, there are about 300,000 boys in the world suffering from the disease. There are more than 3,000 different mutations that occur in the DMD gene. Some suggest there might be as many as 7,000. Suffice it to say there are thousands. Despite heroic efforts supported by hundreds of millions of dollars over many decades, scientists have been unable to produce a cure. Among those working to change that are Dr. Eric Olson and members of the Olson lab. In July 2019, Perspectives had a chance to sit down with Dr. Olson to better understand why, for the first time, a cure could be within grasp.
40