The bench-top revolution

It’s not just funding pushing forward the pace of genetic research at Yale, it’s also technological innovation. On the heels of receiving the grant establishing the Center for Mendelian Genomics (see main story), Yale is acquiring a state-of-the-art DNA sequencer that has the potential to analyze an entire human genome in 24 hours for only $1,000.

The Ion Proton Sequencer, produced by San Francisco-based Life Technologies Corp., is currently one of just three worldwide—the others are being deployed at Baylor College of Medicine, in Houston, Texas, and the Broad Institute, in Cambridge, Mass. The machine, about the size of a laser printer, was developed in part by Yale alumnus Jonathan M. Rothberg, Ph.D., a pioneer in DNA sequencing technology.

Most sequencers require weeks or months, and many thousands of dollars, to sequence a human genome. The Ion Proton’s power and speed are due to advanced semiconductor chips that capture the chemistry of a DNA sample in much the same way as a digital camera captures light. The new equipment promises to be a boon to many projects undertaken at Yale, including the new effort to uncover the causes of rare genetic diseases.

“Cost, speed, and accuracy are key elements in the use of DNA sequencing for both disease-gene discovery and clinical utility,” says the School of Medicine’s Richard Lifton. “The technological advances in the new instrument promise to be game-changing for both research and clinical applications.”