10 Years on, aThe Genome Revolution Is Only Just Beginninga

Posted: April 5, 2010 at 12:53 am

Story Summary: The human genomes sequencing has profoundly influenced basic research and the refinement of genome-reading tools. In the same room that Merriweather Lewis and William Clark presented Thomas Jefferson with a map of the Louisiana Purchase territories, the researchers announced that the human genomes three billion base pairs of DNA had been mapped. Mostly lost in the ceremony was the fact that the genome sequence was not truly complete, but only a first draft. The parts that had been read, still needed to be verified. Since then, it has guided researchers in investigations of human development and disease. Some of their investigations have yielded new tests and drug targets and insights into the basis of human disease and development. But theyve also revealed just how complicated human biology is, and how much remains to be understood. Wisely, the president did not attach timetables to his bold predictions, wrote Collins in Nature. Perhaps the greatest genomic advances of the last decade involve tools. The Human Genome Project — the Collins-led governmental side of the genome-sequencing race, with Venter leading the private side — commenced only when the cost of reading DNA finally approached $1 per unit, or $3 billion for a whole genome. The International HapMapproject was formed in 2002, and compared the genomes of several hundred people from around the world. This produced a map of genomic hotspots where people — any two of whom are roughly 99 percent identical at the genetic level — are most likely to have DNA differences. This helps researchers narrow their focus on genes involved in disease. 5 percent of all human genes code for the proteins that make up our cells and tissues. As for what the rest are doing, they are still learning. In 2003, the NIH started the Encyclopedia of DNA Elements, or ENCODE, which supports researchers in identifying functions for the rest of our genes. Many genes control when protein-coding genes are turned on and off at different places and times in the body, adding a whole new layer of complexity to the genome. This field of study is called epigenomics, and many researchers think its just as important as genomics. Scientists hope these projects will fill the massive gaps that remain in current genetic explanations for most common diseases. Scientists hope these projects will fill the massive gaps that remain in current genetic explanations for most common diseases. Scientists hope these projects will fill the massive gaps that remain in current genetic explanations for most common diseases. The ability to make meaningful predictions is still quite limited, wrote Collins. Indeed, personalized genomics companies like 23andMe, Navigenics and deCODE have struggled, as the novelty of genomic information gives way to a realization that its still of limited medical use. But all for all that turn-of-the-millennium expectations have been tempered, the genomic age has produced significant medical advances. Analyses of gene disturbances in cancer tissues have produced several promising drugs. Testing for breast cancer mutations is now common. Testing for breast cancer mutations is now common. For some complex diseases, such as schizophrenia, researchers are now looking at genes and physiological systems they never suspected were involved. For some complex diseases, such as schizophrenia, researchers are now looking at genes and physiological systems they never suspected were involved. Making sense of massive new genomic datasets has fueled the growth of systems biology, now one of the hottest areas of science. Making sense of massive new genomic datasets has fueled the growth of systems biology, now one of the hottest areas of science. Knowledge of the human genome wasnt scattered and hoarded. It was freely shared with any researcher who wanted it. As Venter, now the leader of the eponymous J. Craig Venter Institute, responsible for the designing the first synthetic genome, concluded his essay: The genome revolution is only just beginning. Nature, Vol. By Todd Golub. Comments (0)Not a member?If youre not yet registered with Wired. com, join now so you can share your thoughts and opinions….Read the Full Story

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