How Did Jean Lafitte Die And When

Human Genome: disappointment or principle?

Ten years after the first draft human genome

few medical advances that have earned him see the light.

In biology, however, has represented a revolution.

Let's be honest: made a few promises tad enthusiastic. We talked about that in a decade could establish and eliminate the common origin of many diseases such as cancer, mental illness or degenerative disorders. That would open an era of diagnoses, treatments and drugs tailored to each individual in particular. Hereditary malformations disappear, would stop aging, agree to a new time where sickness and old age begin to be a thing of the past. We wrote countless articles on the moral hazard of control over DNA, gene patents and the usual Frankenstein syndrome fans warned us over and over again about the dangers of playing God. The then U.S. president, Bill Clinton, said the decoding of the genome "will revolutionize the diagnosis, prevention and treatment of most, if not all human disease." Francis Collins, director of genomic agency of the National Institutes of Health, prophesied that in ten years we would have diagnosis genetic disease and in five years, the first treatments. Pharmaceutical corporations spent billions of dollars to all sorts of associated research, assuming that recover more than imminently.

Well ... that decade has passed since the Human Genome Project-publicly owned and private Celera Genomics Program published the first draft of our DNA. And seven since he gave roughly completed. However, it appears that these promises are fulfilled in any significant degree. We're actually a bit as we were, with many advances in medical science but no revolution genetic noteworthy. The current director of the National Cancer Institute U.S. Harold Varmus (Nobel laureate), published recently in the New England Journal of Medicine that "only a handful of important changes, some specific genetic treatments for a few cancers Some novel therapies for a few Mendelian trends and some strong genetic markers to monitor response to medication, the risk of illness or risk of disease progression, have been incorporated into routine medical practice. " Nicholas Wade, science editor of the New York Times , has summarized in the following words: "After ten years of effort, geneticists are almost back to square one in finding the roots of the disease."

The truth is that, for now, you'd think this is a disappointment. Despite the excesses in public relations, seemed quite logical to assume that reading human genome would lead to some radical changes in medical science. The only ones who expressed some doubts about it were the supporters of environmental scenarios for the disease, some denouncing fundamentalism genetic determinism in this whole affair, and probably would not be without its share of reason, but still should have gotten a lot more. What happened? What went wrong? And, how far wrong?

Human Genome Project.

The original idea of \u200b\u200bdecoding our entire DNA appeared in the Department of Energy of the United States, whose interests and laboratories reach far beyond the mere national energy management in the mid 80s. In a 1987 report , this ministry has already stated that his intention was "to create a physical map of human genome" and ultimately word "understand" because "the knowledge of the human genome is as necessary for the continued progress of medicine and other health sciences as knowledge of human anatomy has been for the present state of medicine." The project, with a budget of three billion dollars, was launched in 1990 as an international co-operation which also involved the United Kingdom, France, Germany, Japan, China and India.

The thing looked so promising that in 1998 he joined the private initiative of Craig Venter, led by Celera Genomics , with a budget ten times smaller (though it took a bit of cheating, including all the results already produced by the Human Genome Project that were publicly available through GenBank ). The fact is that they produce a kind of career during the latter stages of the investigation, who won the public initiative recently, the July 7, 2000.

Although these figures of billions of dollars are dizzying, the truth is that out very cheap. Often, the development of a single drug at the hands of a pharmaceutical company needs ten years of research and billions of dollars. Read the entire human genome in those same ten years and three billion seems no exaggeration, especially if we consider that it was necessary to develop comprehensive technologies that did not exist when you start the program: only these technologies are worth more than three billion. Come on, that the matter was not an economic sprawl and has generated many benefits. But, so far from what we were dreaming ...!

All different, all equal.

Varmus has summarized the current situation with remarkable precision and brilliance, "Genomics is a way of doing science, not medicine." Indeed, our DNA sequencing has given us a treasure of immense value to biology ... whose medical applications practices are still very limited. We have read the genome but honestly we have not yet understood . Not enough.

And it has many remarkable and wonderful things ... and fiendishly complex to understand. For example, the number of genes capable of expressing as protein is only 23,000, when the roundworms supposedly more basic than we-present 20,000 (when you expect more than 100,000). The vast majority of the genome appears to be junk DNA (more technically, non-coding) whose function is in the best Auxiliary and often zero, left there by evolution over hundreds of millions of years, in tests with mice, when removed from this "useless code, not absolutely nothing happens. Other parts of the noncoding DNA contributes to the RNA transcript in ways not yet well understood. The genetic similarity among all human beings are hereditarily healthy 99.5% or higher. The resemblance to the chimpanzee is so great (around 96%) that have emerged voices for inclusion in the genus homo (or us in the bread ). And in other primates the difference is not much higher.

hypothesis conjecture, perhaps more popular in recent times is that the differences between humans and between your chances of getting a disease or do not correspond to one or two mistakes or variations in DNA, but with a very complex sequence interactions between these subtle differences, so that obviously makes it difficult to identify and correct. For their part, environmentalists (supporters of the differences between humans and their susceptibility to disease are more closely related to the environment than genes) have found a unique opportunity to advance his view, by the simple argument that these hypotheses or conjectures deterministic remain mere speculation with the current data of the genome in hand. This will be discussed with the diseases that have a hereditary component even clearer despite living since childhood in different environments, but certainly difficult right now with those in which this hereditary factor is less secure. In light of what (little) we know now, this debate not be settled soon.

The party of biologists.

In more general biological terms, however, sequencing human genome and other species has led to unparalleled progress. Ultimately, we could not raise any of this seriously if we had not started to read the DNA, which is already a tremendous progress in itself. The genetic engineering or molecular biology contemporary would be incomprehensible without the results of these projects also represent an essential reference for proteomics . In fact, everything you do biologists from now and forever be marked by this hidden knowledge before. And knowing as we get more and more, will be extended to medicine, though perhaps not the forms assumed in the beginning when we were still more ignorant.


So, as my grandmother, nor as bald or seven wigs . The human genome sequencing has provided a major breakthrough biological secondary applications in medicine of this, most likely will continue to increase as we learn more. In some ways has been a disappointment, but only because Mother Nature had in store for us a puzzle even more complex and fascinating within each of our cells. And, undoubtedly, has been a principle: the birth of the future life sciences, with all the medical implications making it and will. As always, science advances until you make a mistake, we make a mistake making exaggerated promises ten years ago, but the result is we now know much more and much better. Progress is not always a straight line, but a lot of ways, including an occasional twisted back. In the long run, reading the DNA will be remembered as a great milestone and we begin to understand ourselves deeply, the better.