2013 ACR/ARHP Annual Meeting: Advances in Genomic Research Demystify, Defeat Disease

SAN DIEGO—In the years since he and his team of researchers sequenced the human genome in 2000, there has never been a dull period of time in the field of genomics, but now is an especially exciting time, said J. Craig Venter, PhD, to an audience of thousands of rheumatologists and rheumatology health professionals.

As the 2013 ACR/ARHP Annual Meeting guest lecturer, Dr. Venter addressed a packed auditorium in San Diego, on Sat., October 26, with his speech, “Life at the Speed of Light.” The founder, chairman, and chief executive officer of the J. Craig Venter Institute in La Jolla, Calif., and Rockville, Md., Dr. Venter briefly reviewed some of his institute’s major genomic research achievements and revealed the disease-fighting potential of the emerging field of metabiomics. With this technology, scientists may one day be able to create synthetic, engineered bacteria to fight disease, Dr. Venter said, or e-mail the code for influenza vaccines around the globe in seconds instead of creating vaccines in a factory and then shipping them abroad.

Genes, Disease, and the Recipe for Life

In 2007, the Venter Institute researchers published the first complete, diploid human genome and generated worldwide interest in metabiomics, Dr. Venter said. “This was important as we try to determine the genetic basis of disease,” he told the audience. Using robotic technology, it’s possible to isolate single cells, even separating and sequencing sperm cells to distinguish maternal from paternal genes. “Only by understanding those genetic variants can we understand critical aspects of disease,” he said. Bacteria, including potentially generating synthetic bacteria whose DNA could be engineered for disease-fighting purposes, are a hot area of genomic research.

While sequencing a human genome is relatively cheap, about $1,000, “we need to develop this in a digitized format, a human phenotype on at least 10,000 people to include all diseases and human characteristics,” said Dr. Venter. “After we sequenced the first genomes, we asked, ‘How many genes are essential for life?’ ” One of the challenges of genomic research is that the longer you make a piece of synthetic DNA, “the more errors there are. We have spent a lot of time correcting the errors of the synthetic process,” Dr. Venter said. After some trial and error, in 2010 the researchers were able to replicate the genetic code of M. mycoides, and then injected these synthetic cells into M. capricolum cells. “Capricolum cells are as different from mycoides cells as we are from mice. They are about 10% the same,” said Dr. Venter. Once the new, synthetic DNA was inserted, proteins were being made, they discovered. “These restricted enzymes recognized the cells as foreign DNA and chewed it up.” Quickly, the researchers saw that the synthetic M. mycoides cells had taken over. “Not a single cell was from capricolum.” The researchers had successfully changed the DNA software to change the species, Dr. Venter noted.

Navigating a New Frontier

Engineering bacteria is a painstaking, challenging process, as the lengthy strands of DNA may contain millions of important codes. “One letter wrong out of 1.1 million messes it up,” said Dr. Venter. Another important issue is bioethics as this field rapidly progresses, something he called his team’s top priority.

To ensure that future scientists viewing a synthetic bacterium will not confuse it for something naturally occurring, Dr. Venter and his team created a microscopic watermark. Marks included the institute’s URL, the names of the scientists involved in the project, and three inspiring quotes. Including a quote from the Irish writer James Joyce required copyright permission from his estate, and another saying from American physicist Richard Feynman was originally misquoted. The correct Feynman quote imprinted on the synthetic bacterium encapsulates the spirit of discovery in genomic research: “What I cannot create, I do not understand,” said Dr. Venter.

Future genomic research must target the 50 or so genes whose exact functions are still unknown, said Dr. Venter. One potential application of genomic research is creating synthetic DNA that can correct disease-causing errors in cells, and then transplanting those engineered cells back into the body, he noted.

Another potential application is in the area of vaccine development, Dr. Venter said. Currently, vaccines for deadly viruses, like influenza, must be manufactured and then shipped to vaccination sites worldwide. Instead, researchers at the Venter Institute are sequencing new, emerging flu viruses so vaccinations could be created closer to where they are needed, something Dr. Venter calls “biological teleportation.” To respond to a global flu pandemic, “we could send a new vaccine around the world in seconds,” he said. “Our ultimate solution is a digital, biological converter attached to your computer.”

Susan Bernstein is a writer based in Atlanta.