| Great fanfare surrounded the discovery of genes for cystic fibrosis and Huntington's disease, for instance. But people who inherit these genes are still dying. |
It is not as though an upstart company beat NASA to the moon.
Though Celera Genomics yesterday claimed to have beaten a $3 billion government-sponsored project designed to read out the entire human genetic code, scientists say the two-year-old company has not landed yet.
The information collected by Celera is in pieces and the company's scientists still must assemble them to equal what the government has set out to do with its Human Genome Project. The government is expected to announce a "rough draft" - 90 percent complete - by June.
And it is not as if either achievement will lead immediately to new cures for disease. It will take legions of scientists in drug companies and academia years to incorporate this information into new and better drugs.
In fact, understanding the genetic causes behind many diseases has yet to lead to blockbuster cures. Great fanfare surrounded the discovery of genes for cystic fibrosis and Huntington's disease, for instance. But people who inherit these genes are still dying.
Still, the results of both the public Human Genome Project and the private endeavor could lead to advances all across medicine. Genes, in some way, are connected not only with inherited conditions such as cystic fibrosis, but also with such common illnesses as heart disease, cancers and depression. They factor into tendencies to be obese, or to become alcoholic.
Drug companies are eager to use the information flowing from both projects, banking on the ability to revolutionize the invention of drugs. While most current drugs come from trial and error, the decoding of the genome promises a smarter route in which drugs are custom-made to fit the molecular-scale workings of the body.
Celera concedes that it does not have the whole code spelled out in the order it appears in human cells; instead, it has read out millions of fragments that it must now put back together.
And to do that reassembly, it has been relying on the government-sponsored project - which is going slower in reading out the DNA but is doing so in bigger pieces that are easier to reassemble.
"The reason they're done early is the public effort has provided them with the other half of what they need," said Richard Waterstone of Washington University, St. Louis, one of the centers working on the government versions.
If you think of the genetic code as the works of Shakespeare, he said, Celera has decoded a pile of individual sentences, but in the government project you could find a whole speech by Cordelia.
The goal of the public and private genome projects is the same: to take all the genetic material stored in human cells (collectively known as the genome) and read out the chemical code it carries. That code holds the equivalent of three billion letters and spells out instructions for the development and maintenance of the human body.
The technique of Celera's founder, J. Craig Venter, called the "shotgun" approach, reads the genetic code by dividing it into 70 million tiny pieces that need to be put in order.
Some of Venter's information, fragmented as it is, would be useful to drug companies, Waterstone said. Already, the company's work has led to the discovery of hundreds of genes that scientists know are involved in some specific functions of the heart, the brain, or some other part of the body, giving drug companies enough to get started.
But two enormous hurdles remain. For one thing, scientists like to know how the code differs from one person to the next. It is in these differences that lie many diseases and predispositions to disease.
Richard Fishel, a cancer researcher at Thomas Jefferson University, is working on a technique to identify these variations, or polymorphisms.
Then there is the task of figuring out what the 100,000 some-odd genes encoded in the DNA actually do. Celera scientists "have the sequences, but they need function," Fishel said.
And there is the puzzle of the "junk." Scientists still do not completely understand why, but less than 10 percent of human DNA is considered part of one gene or another. The other 90 percent looks like gibberish. This so-called junk DNA probably has some important function, but scientists have yet to figure out what.
And even if they decode all the combined genes and junk, the old analogy of the genetic code as a blueprint for a human being is turning out to be an oversimplification.
Genes, carried in DNA, get their codes copied into something called RNA, before it then goes on to help the construction of biological molecules called proteins. "Even the RNA has function, so you're adding yet another level of complexity," Fishel said.
Beyond that, many questions of sickness or health revolve around relative amounts of different proteins.