discovered Abeona, an American start-up spun out of
Nationwide Children’s Hospital in Ohio, which was
planning clinical trials of gene therapy for Sanfilippo
children. A savvy IT business manager, Megan
founded the Sanfilippo Children’s Foundation and
raised a million dollars. She invested that money
in Abeona on the proviso it would carry out clinical
trials in Australia.
Megan’s story blew me away. Even though I
was editor ofCosmosmagazine at the time, we had
completely missed the arrival of gene therapy. I
suspect we thought of it as a failed technology.
Certainly, there had been disasters such as the
death of US teenager Jesse Gelsinger in 1999, when
his immune system went into meltdown from the
sudden infusion of trillions of virus
particles bearing the therapeutic
gene. In 2003 tragedy struck again
when five children developed
leukaemia after receiving gene
therapy.
Today’s shining example of
the success of gene therapy is awas only a one-in-four chance their offspring would
inherit both bad copies. Tragically, that was the case- twice over. They were told Isla and Jude would live
only to their teens and die paralysed, unable to talk
or eat.
The advice the Donnells got from doctors was
“have no false hope”. Megan didn’t listen. She did her
research and discovered gene therapy.
IT’S A WONDERFULLY SIMPLE idea. For all the
profound consequences of a disease like Sanfilippo,
its cause is simple: a single gene is faulty. If you could
ferry the missing gene to the organ that most needs
it, typically using a virus that infects the cells of that
organ, you might be able to fix the disease. MeganMEGAN P DONNELL
Though I had no medical problem in mind, I was
trying to answer a rather profound question:
how does the mush of an embryo sculpt itself
into a body?Issue 86 COSMOS – 79BRAIN ORGANOID