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11.09.2012

Researchers: 'Junk' DNA plays major role in disease

International research teams have junked the notion of "junk" DNA, reporting that at least 80% of the human genetic blueprint contains gene switches, once thought useless, that control the genes that make us healthy or sick.

Released Wednesday, the $288 million Encyclopedia of DNA Elements (ENCODE) project was funded by the federal National Human Genome Research Instituteover the last five years. It includes reports by 440 researchers from 32 labs worldwide. The project set out to explain the mystery behind one of the findings of the 2003 Human Genome Project, why only 2% of human genes seemed directly involved in the production of bone, blood, muscle and other tissues.

"The major lesson from ENCODE is how complex the human genome turns out to be, with this incredible choreography of switches that turn genes on and off," NHGRI chief Eric Green says. Those switches, also called transcription factors or "regulatory" genes, number more than 4 million so far, residing on stretches of DNA once thought of as junk.

Results show these regulatory genes turn on and off to control genes that produce bone, blood, insulin, muscle and other tissues. They also play a major role in disease. The effort is just a massive beginning stab at understanding the gene networks that let genes produce the proteins and other material that build human beings. Among the findings from the reports already:

•Rare diseases: The results show that variations in these regulatory genes, once thought of as junk, are responsible for most of the common ailments humans face, such as the gut ailment Crohn's disease. Scientists have also tried to find illnesses tied to mistakes in single genes, but the new results suggest that complex illnesses tied to these regulatory genes are five to 10 times more common than ones tied to mistakes in single genes, says Stanford University's Michael Snyder.

•Cancer: Among the 17 major types of cancer, each type repeatedly suffers from defects in 20 transcription factors, "over and over again," says genome scientist John Stamatoyannopoulos of the University of Washington School of Medicine in Seattle.

•Evolution: Color vision and nerve growth regulatory genes show evidence of recent evolution in humans.

The studies, released by the journals NatureScienceCell and others, reflect the results of more than 1,600 experiments on 180 different cell types to trace these gene networks, says Richard Myers of the HudsonAlpha Institute for Biotechnology in Huntsville, Ala. Understanding these networks of genetic switches will provide new targets for drugs aimed at the genes and for "personalized" medicine, Myers and other researchers suggested, where drugs tuned to a person's specific genetic makeup are given to both prevent and treat disease.

"We're going to have to shift to a broader kind of language beyond the word gene," to describe how gene switches work, says Ewan Birney of the European Molecular Biology Laboratory-European Bioinformatics Institute. Although the ENCODE results suggest that at least 80% of "junk" DNA actually plays a role in controlling other genes, Birney believes that more likely nearly 100% of it will prove to have a purpose, and many more regulatory genes await discovery.

NHGRI has made available up to another $123 million in research funding for more ENCODE efforts in the next four years. "Our complete understanding of how the human genome works is far ahead of us," Green says.

Source: http://www.usatoday.com/news/health/story/2012-09-05/junk-dna-disease/57604346/1?csp=34news




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Founded by Russian entrepreneur Dmitry Itskov in February 2011 with the participation of leading Russian specialists in the field of neural interfaces, robotics, artificial organs and systems.

The main goals of the 2045 Initiative: the creation and realization of a new strategy for the development of humanity which meets global civilization challenges; the creation of optimale conditions promoting the spiritual enlightenment of humanity; and the realization of a new futuristic reality based on 5 principles: high spirituality, high culture, high ethics, high science and high technologies. 

The main science mega-project of the 2045 Initiative aims to create technologies enabling the transfer of a individual’s personality to a more advanced non-biological carrier, and extending life, including to the point of immortality. We devote particular attention to enabling the fullest possible dialogue between the world’s major spiritual traditions, science and society.

A large-scale transformation of humanity, comparable to some of the major spiritual and sci-tech revolutions in history, will require a new strategy. We believe this to be necessary to overcome existing crises, which threaten our planetary habitat and the continued existence of humanity as a species. With the 2045 Initiative, we hope to realize a new strategy for humanity's development, and in so doing, create a more productive, fulfilling, and satisfying future.

The "2045" team is working towards creating an international research center where leading scientists will be engaged in research and development in the fields of anthropomorphic robotics, living systems modeling and brain and consciousness modeling with the goal of transferring one’s individual consciousness to an artificial carrier and achieving cybernetic immortality.

An annual congress "The Global Future 2045" is organized by the Initiative to give platform for discussing mankind's evolutionary strategy based on technologies of cybernetic immortality as well as the possible impact of such technologies on global society, politics and economies of the future.

 

Future prospects of "2045" Initiative for society

2015-2020

The emergence and widespread use of affordable android "avatars" controlled by a "brain-computer" interface. Coupled with related technologies “avatars’ will give people a number of new features: ability to work in dangerous environments, perform rescue operations, travel in extreme situations etc.
Avatar components will be used in medicine for the rehabilitation of fully or partially disabled patients giving them prosthetic limbs or recover lost senses.

2020-2025

Creation of an autonomous life-support system for the human brain linked to a robot, ‘avatar’, will save people whose body is completely worn out or irreversibly damaged. Any patient with an intact brain will be able to return to a fully functioning  bodily life. Such technologies will  greatly enlarge  the possibility of hybrid bio-electronic devices, thus creating a new IT revolution and will make  all  kinds of superimpositions of electronic and biological systems possible.

2030-2035

Creation of a computer model of the brain and human consciousness  with the subsequent development of means to transfer individual consciousness  onto an artificial carrier. This development will profoundly change the world, it will not only give everyone the possibility of  cybernetic immortality but will also create a friendly artificial intelligence,  expand human capabilities  and provide opportunities for ordinary people to restore or modify their own brain multiple times.  The final result  at this stage can be a real revolution in the understanding of human nature that will completely change the human and technical prospects for humanity.

2045

This is the time when substance-independent minds will receive new bodies with capacities far exceeding those of ordinary humans. A new era for humanity will arrive!  Changes will occur in all spheres of human activity – energy generation, transportation, politics, medicine, psychology, sciences, and so on.

Today it is hard to imagine a future when bodies consisting of nanorobots  will become affordable  and capable of taking any form. It is also hard to imagine body holograms featuring controlled matter. One thing is clear however:  humanity, for the first time in its history, will make a fully managed evolutionary transition and eventually become a new species. Moreover,  prerequisites for a large-scale  expansion into outer space will be created as well.

 

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• International social movement
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