Last week, the University purchased new DNA sequencing technology that researchers hope will allow rapid advances in the field of genetics.
The Ion Proton Sequencer, developed by Jonathan Rothberg’s GRD ’91 company Life Technologies, can sequence a human genome 10 times faster than any previous technology of its kind, Rothberg said. He added that he hopes to work with researchers at Yale’s School of Medicine to create a system that will allow doctors’ offices and hospitals around the country to have immediate access to the genetic sequences of any individual — and to information about potential genetic disorders for which that individual is at risk.
The sequencer works by recording patterns of hydrogen ions in an organic sample — similar to the way a camera senses and records light — and deriving a “map” of the subject’s genetic sequence from the data it collects, Rothberg said.
“[The sequencer] is cutting-edge technology that has the potential to sequence [complete] human genomes in a day,” said Department of Genetics chair Richard Lifton. “This will have broad application to both discovery science and clinical diagnosis.”
Lifton said Yale received the sequencer earlier than other institutions — as of now, only two other universities have received the technology — due to the University’s work in genetic mutations and its strong working relationship with Rothberg himself. Lifton added that since Yale is a leader in research on genetic mutations, working with the newest, most-available technology was natural. Rothberg, whose company works in biotechnology, is based in Guilford, Conn., which made establishing a relationship easier as well.
The sequencer costs costs $150,000, compared to the price tag of $500,000 to $750,000 for other ways of sequencing DNA, according the Life Technologies website. Rothberg said he hopes the low cost of the sequencer will facilitate research.
Lifton, along with Neurogenetics Program Co-Directors Murat Gunel and Matthew State, is helping to catalyze the “democraticiztion” of the human genome, Rothberg said. The low per-genome cost of the sequencer, just $1,000 compared to $10,000 with conventional methods, theoretically makes it available to doctors outside of major research institutions, Rothberg said. But, at present, widespread usage is pointless because small-scale users lack the ability to interpret the results of the test, which requires a deep understanding of specific genetic mutations.
Rothberg said he hopes Yale will be a key player in overcoming this problem, by combining expertise in both research and the medical applications of genetics. Rothberg’s collaboration with Yale could allow the University to “bridge the gap” between discovery of complex genetic mutations and diagnosis of diseases associated with those mutations, he said.
As complex mutations continue to be discovered and diagnosed, at Yale and other collaborating institutions, Rothberg said his company will work with scientists at Carnegie Mellon University, Rothberg’s alma mater, to compile complex data about the human genome into a simple piece of software that local hospitals can use to easily predict individuals’ risk of genetic diseases.
“The existence of this machine makes feasible personal genome sequence collection much earlier than people were thinking it would be,” said Robert Murphy, director of Carnegie Mellon’s Ray and Stephanie Lane Center for Computational Biology. Murphy is currently gathering together a team of researchers to begin the process of creating software to help hospitals analyze the genes of their patients using the sequencer. He added that, though the creation of such software will be a many-stage process due to the human genome’s complexity, the first stage of development, which would allow for easy diagnosis of genetic diseases resulting from the mutation of a single gene, should be complete within one year.
Other than Yale, the Baylor College of Medicine and the Broad Institute, a medical research collaboration between Harvard and MIT, were the first to receive access to the Ion Proton Sequencer, which was announced Jan. 10.