Founder Stephen Turner in laser-resistant shades Gregg Segal
On Apr. 28, in a factory in Menlo Park, Calif., a few black and white machines were being assembled and prepped to go into shipping crates. The machines looked like fancier-than-usual copier equipment. Each was about half the size of a MINI Cooper and adorned with some design flourishes—oversized, glowing power buttons, a slick touchscreen monitor on the side. Still, to look at them you wouldn't know they cost $700,000 a pop, that they're the result of a 14-year, nearly $600 million quest, or that their creators believe these machines may change the scientific understanding of life itself.
These are the first production models of the PacBio RS, gene sequencers made by a startup called Pacific Biosciences, and they're heading to research laboratories around the U.S., including several national defense labs and the Howard Hughes Medical Institute. Move past its smooth exterior and the RS reveals an interwoven collection of lasers, chemical mixing stations, cameras, robotic arms, and special chips. It's essentially a superpowerful microscope that records, in real time, biological processes on a molecular scale. That means it can see the creation of the tiniest of things—including, most crucially, DNA—in rapid-fire action. Soon enough, the RS may well do something that's never been done before: Take an entire strand of human DNA, with its 3 billion bits of information, and map it out in minutes.
The RS has already achieved something of a mythic status in the genetics world, which has had a spectacular run of hype and disappointment ever since a draft of the human genome was first mapped in 2000. The hope then was that the genetic basis for disease would be identified, and cures would pour forth. Reality proved more complicated. The laborious mapping process did identify some telltale gene sequences that cause illnesses. But most maladies like cancer, it turns out, vary as much as their victims—blockbuster drugs work great for people who happen to have a particular genetic code; everyone else needs a treatment tailored to their particular case. Fulfilling the promise of bespoke cures requires a mapping tool that's accurate, economical, and fast. More than that, it may require a machine that can analyze the incredibly intricate changes that occur not just to DNA but to other mechanisms in the body when disease hits.
Pacific Biosciences claims the RS provides the first lens capable of viewing this type of complexity. "The ability to observe these things in real time has been the goal of modern biology for the last 50 years," says Eric E. Schadt, the company's chief scientific officer. "PacBio is the only game in town for that type of work." Even competitors, who express doubts about the RS's commercial prospects, allow that the company has created a scientific marvel. Today, it bestows scientists with the power to watch the body's mechanism for decoding DNA. Tomorrow it could apply similar steps to studying all manner of molecular creatures from RNA to ribosomes, giving pharmaceutical companies, hospitals, and super-food makers fresh insights on the behaviors of viruses and the effects of environmental conditions on organisms over time. "I think it is a tour de force," says Jonathan M. Rothberg, the chief executive of Ion Torrent Systems, a rival maker of low-cost sequencing systems. "Technically, it's fantastic."
PacBio was founded in 2004 by a physicist named Stephen Turner. With his mat of short, curly brown hair, thick-rimmed glasses, and earnest demeanor, he seems most comfortable in front of a white board talking science, making declarations such as, "Here you have E to the minus lambda Z." Turner is either kind enough or oblivious enough to assume that his audience can keep up.
Source: www.businessweek.com
