Carnegie Mellon researchers will be joining the scientific team developing a powerful DNA sequencing machine designed to sequence the entire human genome in a day for $1000.
The breakthrough technology and subsequent project was announced this week by Jonathan Rothberg, a CMU alumnus (1985) and pioneer in the field of high-speed DNA analysis. Rothberg's company Ion Torrent, a unit of San Francisco-based Life Technologies Corp., is creating what Rothberg calls "doctor in a box" software that would use a patient's DNA sequence to diagnose disease and predict which therapies might be most effective or cause the fewest side effects.
The Ion Proton Sequencer is designed to analyze a single genome in a day and at a fraction of what it previous cost to accomplish the task. Previously has taken weeks to months to sequence a human genome at a cost of $5,000 to $10,000. The sequencing could profoundly improve the treatment of many diseases and illnesses, including cancers, diabetes and autism.
Scientists at Carnegie Mellon University say advanced computational tools will be the key to the project's success.
“The promise of ‘doctor-in-a-box’ is that by using artificial intelligence, like we’ve seen with IBM’s ‘Watson’ computer, we will be able to associate the variations in the human genome with the vast amount of information we have about human health,” said Rothberg in a CMU statement. “The work the Carnegie Mellon team is undertaking opens up the possibility that practicing physicians will be able to diagnose disease, identify disease susceptibility and guide therapy selection as easily as they can now use Apple’s Siri on the iPhone.”
Ion Torrent is also collaborating with Yale Medical School and Baylor College of Medicine. Rothberg's company is sponsoring the project through the first year; more funding is expected through federal grants and other sources.
Rothberg also established the Rothberg Research Awards in Human Brain Imaging at Carnegie Mellon to support the university’s faculty and students in creatively pushing research boundaries in how the brain thinks, learns and ages.
Click here for a funny explanation by Rothberg of his research on Pop!Tech
Source: Jonathan Rothberg, CMU