Gene therapy and "The Forever Fix'

Corey Haas is a 12-year-old boy who suffers from a form of progressive blindness caused by a defect in one gene: Corey's eye can't produce a protein called RPE65.

In October of 2008, shortly after his eighth birthday, doctors at Children's Hospital of Philadelphia injected 48 billion copies of a specially modified virus into a small section of Corey's left eye.

Normally, viruses inject their own genes into cells. Those genes hijack the material in the cells and make copies of the virus that eventually spread to other cells. The viruses injected into Corey's eye, on the other hand, had been modified so they would attach to one type of cell and inject one gene: a proper copy of the gene that controls the production of RPE65.

Before the injection, Corey could barely see out of either eye. He was destined to become totally blind. Four days after the injection, he began to see clearly for the first time in several years.

Corey's treatment was one of the first major successes of gene therapy— the moment it became clear that we had passed a medical milestone.

Death of a researcher

This may come as a surprise to Philadelphians, who may recall that, some ten years ago, a gene therapy experiment at the University of Pennsylvania killed a promising young man, at which time gene therapy research seemed to grind to a halt. Not so, says Ricki Lewis in The Forever Fix: Gene therapy is going to play a large role in medicine over the next decade or two.

The Forever Fix provides a good general survey of current work in gene therapy, focusing on Corey's story. Like all good contemporary science writing, The Forever Fix takes you into the laboratories, shows you how the researchers work and tells you something about their feelings and personalities. The author throws in lucid explanations of the science involved as she tells the story.

But The Forever Fix isn't just a book about science and scientists. It's also the story of the human beings who must live with genetic illness, including the parents, relatives and friends caught up in their struggles.

Who'll pay?

Lewis devotes a significant portion of the book to the heroic struggles of parents whose children have inherited conditions so rare they may only affect a few dozen people. The drug companies ignore these conditions because there's no prospect of profit. Publicly supported researchers may neglect them in favor of conditions that are more popular with granting agencies. Many of these parents have joined together and actually established small foundations that raise money and support researchers willing to tackle their problem.

As Lewis notes, work on these rare single-gene conditions can provide knowledge that can lead to treatments for more common tragedies that involve multiple genes, such as muscular dystrophy and age-related macular degeneration.

Ricki Lewis is a Ph.D. in genetics who has combined a career as a textbook author with a career as a science journalist. She has produced five textbooks, including nine editions of Human Genetics: Concepts and Applications, and she has also written articles for mass publications like Woman's World and Discover. The result of her mixed authorial genes is an authoritative, highly informative narrative that any general reader can pick up and enjoy.

Another Philadelphia story

In the process, you will also discover that Philadelphia is a major center of gene therapy research— an item I found particularly intriguing. For most of the 58 years I've lived in Philadelphia, I've been struck by the way most of its citizens seem to be unaware of their city's importance in many critical areas.

When I served a stint as a science writer at Penn's News Bureau in the late '60s, I discovered that Philadelphia was a major center for muscle research. Muscle research may seem like a scientific backwater compared to fields like cancer research, but it enjoys a profound relationship to many better-publicized concerns. The heart, for example, is a muscle. Basic research on the structure and function of the muscles is a necessary aspect of any attempt to treat disasters like muscular dystrophy.

When Ricki Lewis spoke at the Penn bookstore earlier this month— shortly after I read The Forever Fix— I asked her if my impression had been correct. Is Philadelphia a major center of gene therapy research? Or had she merely based her book on cases that just happened to involve Children's Hospital of Philadelphia and Penn?

Without hesitation, she readily agreed that Philadelphia is a major center. New York, she added, is currently trying to catch up.

Despite her book's heavy Philadelphia interest, it hasn't yet been reviewed by any Philadelphia publication. I learned about it only from reviews in Science News and the British New Scientist.