Have antisense oligonucleotides hit their stride?

Abstract

Almost two years ago, Julia Vitarello and Alek Makovec learned that their six-year-old daughter, Mila Makovec, has a rare, inherited neurodegenerative condition called Batten disease. The diagnosis explained why the previously healthy girl’s speech, vision, and ability to walk had suddenly started deteriorating. Her brain cells were dying, and doctors delivered the crushing news that the disease, which had no cure, was fatal. Then Timothy Yu, a researcher at Boston Children’s Hospital, learned about Mila’s story. Her parents were trying to get her genome sequenced to better understand the root cause of her disease. Yu offered to help. When he scanned Mila’s genome, he spotted the genetic glitch that was spurring progressive cell death in her brain: an unwanted stretch of viruslike DNA called a retrotransposon was impeding the function of a critical housekeeping gene in Mila’s cells. What he did next has made head spins in the biotech world.