Families of patients are starting advocacy groups, raising money for research, and founding biotech companies to advance cures for rare diseases.
Alison Frase remembers the first moment when she thought gene therapy had a chance of curing patients like her son Joshua of a rare genetic muscle-wasting disease called X-linked myotubular myopathy. It was 2007, and she was viewing a video of a crippled mouse on her home computer. Four weeks earlier, the mouse had been injected with an engineered virus carrying a new strand of DNA intended to correct a genetic mutation that made its muscles limp and weak.
Frase watched in awe and began to cry as the mouse’s limbs started to twitch. Eventually, it picked itself up and walked for the first time. “I thought, who cries watching a video of a mouse?” she recalls.
Frase is very likely the reason why the same treatment is now about to be tested in humans. In recent years, gene therapies have become safer and better at hitting their intended targets in the body, leading to a handful of what appear to be remarkable cures.
