April 9, 2010 Bar Harbor, Maine -- The next generation of DNA sequencers has arrived in Maine. The Jackson Laboratory has a new Illumina "next-gen" sequencer that will greatly improve researchers' ability to zero in on minute variations in genetic code that spell disease.
DNA is composed of four bases--cytosine, adenine, thymine and guanine--and sequencers determine the exact order of the bases in a gene, or even an individual's entire genome of some 3 billion bases.
Until recently, the Laboratory relied on a sequencer that uses what is known as a Sanger sequencing method, which yields sequences of around 1,000 bases. Now, with the Illumina sequencer, Jackson technicians are producing sequences of millions of bases at a time. The Illumina technology is about 35,000 times more powerful than the Sanger method, allowing researchers to discover what's happening across entire genomes.
"Having this new technology provides us with the ability to dramatically speed up the discovery of mutations," says Eric Antoniou, who manages the Laboratory's gene-expression services. "With the old sequencer, pinpointing a mutated gene took breeding hundreds of mice and sifting through many small candidate sequences to find the mutation. It was very expensive and very slow--it could take years--and researchers sometimes still couldn't find the mutation and would have to give up. With the Illumina, the same process can take only a few weeks."
The machine uses fragmented sample DNA, a DNA template, fluorescent dyes combined with lasers, precise optics and computing power to generate a complete genomic sequence. And it does so within a box on a normal lab countertop that generates the sequence in roughly two weeks for less than $50,000. By way of comparison, the Human Genome Project, an international effort that published the first complete human genome sequence in 2002, took more than a decade and cost about $3 billion.
Assistant Professor Kevin Mills, Ph.D., studies translocations--exchanges of genetic material between chromosomes--that occur in some kinds of cancer. "The Illumina sequencer speeds things up by an order of magnitude, and at the same time you obtain results that are much more precise," says Mills. "This technology will now give us the ability to find the exact place where the translocation occurs, right down to the single base level."
The Illumina sequencer is the first of its kind in Maine, and its capabilities will help research beyond the Laboratory's walls. Collaborating scientists from the nearby Mount Desert Island Biological Laboratory, the University of Maine and other Maine research institutions will also have access to it for their own experiments.
Funding for the sequencer was provided by the Maine Technology Asset Fund and the National Center for Research Resources of the National Institutes of Health.
The Jackson Laboratory is an independent, nonprofit biomedical research institution based in Bar Harbor, Maine, with a facility in Sacramento, Calif. Its mission is to discover the genetic basis for preventing, treating and curing human diseases, and to enable research and education for the global biomedical community.
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