The February 15, 2001 the journal Nature 'published a number of 62 pages devoted to analyzing the contents of the human genome, whose first draft had submitted a few months earlier. A week later, the journal Science 'also became echoes the finding, which is already considered one of the greatest scientific milestones. From the beginning, everything related to this genetic material has generated passion, debate and lots of information, in some cases, excessive. A decade later, the same journal 'Nature' looks at how it has evolved this field of research and what remains to be achieved.
Eric Lander of Massachusetts Institute of Technology (MIT) and Harvard University (both U.S.), tries to answer the following question: What have we learned from the human genome for this time? "There is no doubt that the last 10 years have shown the power of genome maps for biomedical research. His greatest achievement has been to help understand the genetic and biology that underlies some diseases, "he says.
" In 2000 our knowledge of the human genome content was very limited. Now we know it is much more complex than imagined, and that contains only 21,000 genes, compared with 100,000 who attributed the beginning, "he adds.
The discovery of microRNAs, small gene fragments that play a key role in development of tumors and other diseases, and the study of SNPs (single nucleotide polymorphisms) which are changes in the order of the letters of DNA genetic information, and what makes a person different from the rest have been instrumental in advancing the understanding of some genetic disorders.
has also helped to determine the genetic differences that exist between some races and other citizens and between geographic areas and others. Also, in a decade, technology has enhanced 50,000 times the speed of reading the DNA, which implies a great reduction in costs.
However, Lander are two major challenges to achieve the ultimate goal is to understand all functional elements making up the genome. "One of the challenges, which will be the focus this decade is to create a catalog containing a broad spectrum of cell types, genomic interactions between each other, possible mutations, etc.." Any project of this kind is already underway, as is the case ENCODE (Encyclopedia of DNA Elements The), although much remains to be done.
"The second challenge, perhaps more complicated and can only be made once it reaches the first, is to learn the grammar of the genome. That is, how to operate all its elements and interrelated."
ON THE TRAIL OF DISEASES
Before the discovery of the genome is less than 100 known genes related to diseases. Since 2000, this list has grown to 2,850 genes involved in Mendelian diseases, ie those in which a single gene involved. This has helped the diagnosis of these disorders. However, it has been less successful in uncovering the genetic factors influencing common diseases that affect the majority of the population.
In fact, "one of the objectives of the Human Genome Project is to transform the treatment of diseases through knowledge majority bases of molecular and genetic causes. And in this, we have only taken a first step, "says Lander.
regards to cancer," have found many oncogenes involved, but in future we should collect them all in a catalog and see what can become therapeutic targets , how they can get to relate to each other, and so on. "says the researcher. For this project have created 'The Cancer Genome Atlas' and' The International Cancer Genome Consortium."
MISSING YOU COME
"The human genome has the potential to revolutionize health care of people, but only in its infancy, "he says Lander." Although genomics has begun to improve diagnosis and treatment in some circumstances, such as genetic profiling is used to better tolerate antiretroviral know what a patient with AIDS, has not yet had a major impact on practice clinic, "agrees on the same page Eric D. Green, the National Institute Human Genome Research in Bethesda (U.S.).
Green says you also need" new technology, which reduces the price genome sequencing and used to better understand the next generation of data that will be coming, as well as increased collaboration between laboratories and between public and private companies. "And, given the nature of genetic information," it is necessary to regulate the tests on the genome, to ensure the protection of patients and avoid misuse of their data. "
Elaine R. Mardis For, of the University of Washington (USA), the genome is like a car with just one engine, no parts, no work. "As the genome also has many pieces they relate to each other and we need to understand that indeed can change medical practice. However, the size and complexity, make this undertaking is very difficult. "Medicine custom is still a utopia.
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