Does Family Funded Medical Research Work?

Who should fund and direct medical research? If you've seen the new movie Extraordinary Measures, you can be forgiven for thinking the best answer is "families who need cures." Patients and their loved ones understand the pressing need for breakthroughs, the movie argues, but many scientists and NIH-type bureaucrats are too plodding and methodical for their own or anyone else's good. As Brendan Fraser's desparate-father-trying-to-save-his-kids-from-rare-ailment (Pompe disease) bellows, they're prone to "cure diseases in theory but never help a single human being in reality."

In actual reality, when families work closely with researchers, they don't yell at them so much. More and more people are getting involved in setting priorities for medical research, for diseases as common as autism and as rare as progeria. The relationship between those families and the scientists they support isn't usually as contentious as the movies would have it. Still, there is a real problem that sometimes arises when families throw themselves into medical funding or research—or, as critics call it, "guerilla science."

Often, the families don't just want a cure–they want one now. Like John Crowley, the real-life father that Fraser's character is based on, they're almost always working against a clock. Severe cases of Pompe disease, for example, can kill their young victims within a year if left untreated. Good science usually takes much longer than that. "It can take years to develop an experimental approach, prepare an application for funding, wait until the application is reviewed and revised, and finally get started on the research," according to the The New England Journal of Medicine—and that's just the timeline for the basic research, not the drug development that comes from it.

Sometimes, the families' gambles work, and they manage to speed up scientific progress that otherwise might have taken decades. For instance, there's the extraordinary story of Brad Margus, whose wife gave birth to three boys in three and a half years, only to find that two of them had ataxia-telangiectasia (A-T), a neurological disease that causes the cerebellum to deteriorate, weakens the immune system, and usually kills its victims in their early 20s. "We grieved for a few months," Margus says. "Then we started orchestrating research."

Margus began by having a Ph.D. guide him through the science of A-T. Then, he leveraged that knowledge—and the business acumen he'd gained after 14 years of building and running a successful food company—to raise millions and accelerate experiments through a new nonprofit, the A-T Children's Project. He set up clinical trials at Johns Hopkins, threw open a cell bank to any interested researchers, and organized four separate scientific conferences. He also zeroed in on researchers who might be able to find the single gene responsible for A-T and showered them with funding. In 1995, one of his picks found the gene.

There's still no cure for A-T, but Margus and his children still have a little time to find one. (A-T is most often fatal in the early 20s; Margus's two affected sons are 20 and 19.) Margus's foundation has propelled a series of furtherdiscoveries. To date, his foundation has raised more than $26 million. Margus himself has also become an expert on genetics. In 2000, he founded Perlegen Sciences, a well-known firm that searches for gene variants involved in other diseases.

Still, the path to scientific success is rarely so straightforward as "fund some research, find a gene." Take the real one that underlies Extraordinary Measures. The movie's chief scientist, Robert Stonehill (Harrison Ford), doesn't exist; he's a composite. And while it's true that Crowley, the father, did rapidly raise millions to support a drug aimed at Pompe disease, what happened next was more nuanced than the movie's arc would lead you to think. In fact, the drug Crowley backed never made it out of the laboratory. Instead, Genzyme, the pharmaceutical company that bought Crowley's startup, pressed ahead with a more effective therapy based on research developed at Duke University. Crowley did raise a lot of money for his cause, and he did accelerate the progress of a drug. It just wasn't the right one.

Dr. Priya Kishnani, one of the Duke scientists involved in developing the Pompe drug that Genzyme did ultimately back, says the research behind the therapy had "decades" of science supporting it. It was funded by patient-led foundations but also by government grants; it included everything from classic petri-dish studies to a dramatic animal experiment that caused a disabled Japanese quail to fly again. Kishnani also led two small infant trials that form the primary basis for the drug's use today. According to the Raleigh News & Observer, Crowley "breached ethical considerations with unsuccessful attempts to get his children enrolled" in those early trials. That scene, needless to say, is not in Extraordinary Measures. In fact, although the film does touch on some ethical issues surrounding clinical trials, it never even mentions the Duke research.

The original "father fights for child's life, bucks medical establishment" drama—that would be Lorenzo's Oil—was also more complicated in reality. The father, Augusto Odone, was certainly heroic, but the clichéd, unfeeling scientist character in the movie was a far cry from his real-life doppelganger, Hugo Moser. According to The Washington Post:

"It was Moser who … demonstrated the oil's uses—and limitations—by doing methodical science, the very science disdained in the movie as impersonal and cold. As the years progressed, Moser and Odone came to an understanding very different from the one portrayed in Lorenzo's Oil—each man realized that whatever he had achieved against ALD would have meant little without the other's contribution. Moser showed that treatment with the oil was useful, but only if given before the afflicted boys began to show symptoms. Because most parents have no way of knowing that their sons have the disease until symptoms occur, treatment with Lorenzo's oil has turned out to have limited value."

Still, none of these families should feel they've let their loved ones down just because they haven't found magic-bullet cures in the space of a few years. What all of them have done is remarkable—they have raised millions in the service of sick people. Movies like Extraordinary Measures and Lorenzo's Oil don't deserve to be condemned, either; they've done a good thing in raising awareness about diseases that are often neglected.

But in distorting how science works—by suggesting that researchers are too slow to develop cures, and that pushing from outsiders will often lead to cures—the movies may be setting families up for disappointment. The fact is, it's not always a good idea to try and speed up science. There's a reason for all that protracted, agonizingly meticulous work that medical researchers do: most of the time, it's necessary.