By Francis Collins for Wired –
Treatments for rare diseases are hard to create and expensive to deliver, but there is new hope for editing the software of the genome.
Sam Berns was my friend. With the wisdom of a sage, he inspired me and many others about how to make the most of life. Afflicted with the rare disease called progeria, his body aged at a rapid rate, and he died of heart failure at just 17, a brave life cut much too short.
My lab discovered the genetic cause of Sam’s illness two decades ago: Just one DNA letter gone awry, a T that should have been a C in a critical gene called lamin A. The same misspelling is found in almost all of the 200 individuals around the world with progeria.
