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Carnegie Mellon Scientists Unveil New Tool To Understand Evolution of Multi-Domain Genes Carnegie Mellon Scientists Unveil New Tool To Understand Evolution of Multi-Domain Genes

--Results Herald New Way To Understand, Exploit Key Proteins in Cancer--

 

PITTSBURGH—Carnegie Mellon scientists have discovered critical flaws in the standard method used to analyze gene evolution. Standard methods fail when applied to genes that encode multi-domain proteins, an important class of proteins crucial to human health. Computational biologist Dannie Durand and colleagues have for the first time tackled the dilemma of how to study the ancestry of multi-domain genes.

 

 Correctly identifying gene ancestry is a linchpin of computational genomics. Genes passed down from a common ancestor tend to perform similar functions in the cell. Scientists exploit this similarity to perform tasks such as predicting gene function, mapping human chromosomal regions to corresponding regions in model organisms, and reconstructing the regulatory circuitry that turns genes on and off.

 

Although computational biologists have developed methods to identify genes that share a common ancestor, current methods often lead to spurious conclusions when applied genes encode multi-domain proteins. Domains are sequence fragments that encode the basic building blocks of protein structure. Evolution makes new genes by mixing and matching domains in novel combinations, much like a child who builds a house, a car and a helicopter from the same LEGO kit by combining LEGO blocks in different ways. This process, called domain shuffling, creates complex proteins that perform specific, critical tasks such as cell communication and binding to other cells. When one of these proteins fails, cancer is often the result. Domain shuffling allows rapid evolution of new proteins, but it also makes it close to impossible for scientists to determine their ancestry.

 

In a paper published online in Public Library of Science Computational Biology today (May 16), Durand's team presents a novel method to determine whether a pair of similar genes evolved from a common ancestor, or whether they just look similar because the same domain was inserted into both genes. Their method, called "Neighborhood Correlation," is the first to tackle this problem.

 

"We needed a completely new approach to determine which multi-domain proteins share a common ancestor, and we are the first group to propose such a method," Durand said. "Ours is the first approach to define and analyze common ancestry in a traditional vertical way, even when domain shuffling occurs."

 

Neighborhood Correlation exploits the structure of a statistically weighted sequence similarity network to differentiate multi-domain genes with shared ancestries from multi-domain genes that result from domain shuffling. Gene duplication creates a specific signature in the network, while domain insertion creates a different characteristic signature. Neighborhood Correlation captures these signatures, giving pairs that arose through duplication, and hence share common ancestry, a higher score than genes that share an inserted domain, but not a common ancestor.

 

The Carnegie Mellon scientists tested Neighborhood Correlation against 20 protein families - including Kinases, the largest multi-domain family found in humans - whose ancestral relationships are well established through lab-based research. The tool worked remarkably well in verifying the ancestral patterns of multi-domain gene evolution for these families, much better than the tools we use today, Durand said.

 

Today's computational tools use sequence similarity, assuming that genes with similar sequences indicate common ancestry. Those methods also use the length of the similar region to rule out similarity that arose due to inserted domains. They reason that the longer the sequence shared by two multi-domain genes, the more likely that those two genes share a common ancestor.

 

But Durand's tests showed that this assumption often does not hold. Her team found disturbing results when they compared sequence similarity to their Neighborhood Correlation method in evaluating the 20 gene families with established histories. The sequence similarity method actually yielded false ancestral associations and missed true ancestral relationships.

 

Neighborhood Correlation is successful because it takes both gene duplication and domain insertion into account. "Not only do we show that Neighborhood Correlation works empirically, we also provide a sound evolutionary argument as to why it should work," Durand observed. "Our results show that the organization of sequence similarity network contains evidence of ancient evolutionary processes. This has exciting implications for future studies. We hope that comparing the sequence similarity networks of different species will reveal how evolutionary processes differ in plants, animals and fungi," Durand said. "Multicellularity evolved independently in each of those groups. To go from a single cell to many cells acting together, each time nature had to solve the same problems of cellular communication and control. But are the solutions the same in each lineage? How those problems were solved is a fascinating question."

 

Although designed for multi-domain families, Durand notes that Neighborhood Correlation also accurately predicts ancestry in single domain sequences. The researchers hope that scientists will begin to apply the analysis to genomic studies to better understand the role multi-domain proteins play in important evolutionary events, such as the emergence of multicellular animals and the vertebrate immune system.

 

Other study authors include Carnegie Mellon's Nan Song, Jacob Joseph and George Davis. Team members are affiliated with the Ray and Stephanie Lane Center for Computational Biology, the Department of Biological Sciences and the School of Computer Science. The study was funded by the National Science Foundation, the National Institutes of Health, and the David and Lucille Packard Foundation.

 

MCS maintains innovative research and educational programs in biological sciences, chemistry, physics, mathematics, and several interdisciplinary areas. For more information about Durand's research, visit http://www.cmu.edu/bio/contacts/faculty/durand.shtml.


deCODE Genetics and Merck Scientists Publish Major Mechanism Through which Genetic Factors Contribute to Obesity and Other Common Diseases

 

--Gene expression analysis of adipose tissue from some 1700 Icelandic participants in obesity research cohorts—

 

Reykjavik, ICELAND, March 16, 2008 – In a paper published online in the journal Nature, a team of deCODE scientists detail a major mechanism through which genetic factors contribute to major public health problems. In its work on the inherited components of dozens of common diseases, deCODE has discovered gene variants that significantly affect individual susceptibility or protection against disease. In the common forms of these conditions – such as obesity, type 2 diabetes and cardiovascular diseases – deCODE has previously shown that genetic variants confer increased or decreased risk by upregulating or downregulating the activity of major biological pathways. As a result, these variants place individuals on a spectrum of risk, with most of the population clustered at roughly average risk and a smaller number of people at either significantly higher or lower risk.

 

In the Nature paper, the deCODE team and collaborators from Merck demonstrate one of the principal ways in which the activity of biological pathways is functionally perturbed in a quintessentially complex condition: obesity. Through analysis of  adipose tissue from some 1700 Icelandic participants in obesity research cohorts, the deCODE team showed in data derived from primary human tissue that variations in gene expression – in the up-regulation or downregulation of how genes are translated into proteins – have a major impact on several parameters of clinical obesity. The deCODE team then used its unique resources for genome-wide linkage and association analysis to demonstrate that variability in gene expression, like overall risk for disease, has a significant inherited component that can be linked to specific versions of genetic markers. The paper, “Genetics of gene expression and its effect on disease,” is published on Nature’s website, www.nature.com, and will appear in a subsequent print edition of the journal.

 

“One of the observations we have made in our work on the isolation of disease genes is that the genetic risk of common diseases is often conferred by variations in the sequence of the genome that affect expression of genes. Hence, one of the ways to approach the study of common diseases is through the analysis of gene expression. This paper provides a substantial contribution towards the understanding of gene expression in man and one example of how it can be used to expand our knowledge of one disease, namely obesity,” said Kari Stefansson, CEO of deCODE. 

 

About deCODE

deCODE is a biopharmaceutical company applying its discoveries in human genetics to the development of drugs and diagnostics for common diseases. deCODE is a global leader in gene discovery — our population approach and resources have enabled us to isolate key genes contributing to major public health challenges from cardiovascular disease to cancer, genes that are providing us with drug targets rooted in the basic biology of disease. deCODE is also leveraging its expertise in human genetics and integrated drug discovery and development capabilities to offer innovative products and services in personal genome analysis, DNA-based diagnostics, bioinformatics, genotyping, structural biology, drug discovery and clinical development. deCODE is delivering on the promise of the new genetics. Visit us on the web at www.decode.com; on our diagnostics website at www.decodediagnostics.com; and, for our pioneering personal genome analysis service, at www.decodeme.com.

 

Source: deCODE Press Release

 

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deCode Genetics Launches A DNA-Based Test Named deCODE PrCa™, For Assessing Risk Of Prostate Cancer

 

-New risk variants will also be folded into deCODEme™- -Another Step Towards Personalized Medicine-

 

 

Reykjavik, ICELAND- deCODE genetics announced the launch of deCODE PrCa™, a reference laboratory test for common, single-letter variations in the human genome (SNPs) that the company has associated with increased risk of prostate cancer. deCODE believes the test will be useful for better predicting risk of prostate cancer, helping to optimize both screening and treatment. deCODE PrCa™ detects a total of six previously discovered SNPs that have been confirmed in many populations, as well as two SNPs on chromosomes X and 2 that are reported by deCODE scientists in a paper published today in the online edition of Nature Genetics. Although most of the variants individually confer moderate risk, they are common and some are linked to more than less aggressive disease. Consequently, a substantial proportion of men have many risk variants that together confer clinically significant risk. Because of these variants, 10% of men are at twice the risk and 1% of men are at three times the risk of the disease in the general population.

 

"Through deCODE PrCa™, we are bringing together in one tool all of the major genetic risk factors for prostate cancer that we have discovered over the past eighteen months. We believe that this is a test with significant clinical utility for improving and personalizing the screening and treatment of one of the most common cancers. At the same time, we will integrate today’s discovery into the prostate cancer module in our personal genome analysis service deCODEme™, enabling our subscribers to stay abreast of how the latest discoveries in human genetics may relate to their genome,” said Kari Stefansson, CEO of deCODE.

 

Today's discovery is a result of the genome-wide analysis of over 300,000 SNPs in 23,000 Icelanders in deCODE’s prostate cancer studies, a finding subsequently replicated in a total of over 15,500 individuals from seven different cohorts from Europe and the United States. One of the SNPs is located on the X chromosome and the other SNP is located on chromosome 2p15 and is associated with a more aggressive form of prostate cancer. The paper, ‘Common sequence variants on 2p15 and Xp11.22 confer susceptibility to prostate cancer,’ can be found at www.nature.com/ng . deCODE PrCa™ is the latest in a series of reference laboratory DNA-based tests for assessing risk of and improving prevention and treatment for common diseases.

 

deCODE gratefully acknowledges the participation of the Icelandic patients and control subjects in its prostate cancer programs, as well as the patients and researchers from 15 academic medical centers in Europe and the United States who took part in the replication of the discovery published today.

 

How to order deCODE PrCa™

deCODE PrCa™ is performed in deCODE’s Clinical Laboratory Improvement Amendments (CLIA) certified laboratory, and must be authorized by a qualified physician. If you are an individual who would like more information on deCODE PrCa™ to discuss with your doctor, or a physician interested in learning more about deCODE PrCa™ for your patients, please visit us at www.decodediagnostics.com .

 

About deCODE

deCODE is a biopharmaceutical company applying its discoveries in human genetics to the development of drugs and diagnostics for common diseases. deCODE is a global leader in gene discovery — our population approach and resources have enabled us to isolate key genes contributing to major public health challenges from cardiovascular disease to cancer, genes that are providing us with drug targets rooted in the basic biology of disease. Through its CLIA-certified laboratory, deCODE is offering a growing range of DNA-based tests for gauging risk and empowering prevention of common diseases, including deCODE T2™ for type 2 diabetes; deCODE AF™ for atrial fibrillation and stroke; deCODE MI™ for heart attack; and deCODE PrCa™ for prostate cancer. deCODE is delivering on the promise of the new genetics.SM Visit us on the web at www.decode.com ; on our diagnostics website at www.decodediagnostics.com ; and, for our pioneering personal genome analysis service, at www.decodeme.com.

 

Source: decode Genetics Press Release



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Scientists from J Craig Venter Institute Create First Synthetic Bacterial Genome

--Publication Represents Largest Chemically Defined Structure Synthesized in the Lab--

--Team Completes Second Step in Three Step Process to Create Synthetic Organism--

Publication in Science: Complete Chemical Synthesis, Assembly, and Cloning of a Mycoplasma genitalium Genome  

  Lead Author: Daniel G. Gibson, Ph.D., JCVI

ROCKVILLE, MD—January 24, 2008—A team of 17 researchers at the J. Craig Venter Institute (JCVI) has created the largest man-made DNA structure by synthesizing and assembling the 582,970 base pair genome of a bacterium, Mycoplasma genitalium JCVI-1.0. This work, published online in the journal Science by Dan Gibson, Ph.D., et al, is the second of three key steps toward the team’s goal of creating a fully synthetic organism. In the next step, which is ongoing at the JCVI, the team will attempt to create a living bacterial cell based entirely on the synthetically made genome.

The team achieved this technical feat by chemically making DNA fragments in the lab and developing new methods for the assembly and reproduction of the DNA segments. After several years of work perfecting chemical assembly, the team found they could use homologous recombination (a process that cells use to repair damage to their chromosomes) in the yeast Saccharomyces cerevisiae to rapidly build the entire bacterial chromosome from large subassemblies.

“This extraordinary accomplishment is a technological marvel that was only made possible because of the unique and accomplished JCVI team,” said J. Craig Venter, Ph.D., President and Founder of JCVI. “Ham Smith, Clyde Hutchison, Dan Gibson, Gwyn Benders, and the others on this team dedicated the last several years to designing and perfecting new methods and techniques that we believe will become widely used to advance the field of synthetic genomics.”

The building blocks of DNAadenine (A), guanine (G), cytosine (C) and thymine (T) are not easy chemicals to artificially synthesize into chromosomes. As the strands of DNA get longer they get increasingly brittle, making them more difficult to work with. Prior to today’s publication the largest synthesized DNA contained only 32,000 base pairs. Thus, building a synthetic version of the genome of the bacteria M. genitalium genome that has more than 580,000 base pairs presented a formidable challenge. However, the JCVI team has expertise in many technical areas and a keen biological understanding of several species of mycoplasmas.

“When we started this work several years ago, we knew it was going to be difficult because we were treading into unknown territory,” said Hamilton Smith, M.D., senior author on the publication. “Through dedicated teamwork we have shown that building large genomes is now feasible and scalable so that important applications such as biofuels can be developed.”

Methods for Creating the Synthetic M. genitalium

The process to synthesize and assemble the synthetic version of the M. genitalium chromosome began first by resequencing the native M. genitalium genome to ensure that the team was starting with an error free sequence. After obtaining this correct version of the native genome, the team specially designed fragments of chemically synthesized DNA to build 101 “cassettes” of 5,000 to 7,000 base pairs of genetic code. As a measure to differentiate the synthetic genome versus the native genome, the team created “watermarks” in the synthetic genome. These are short inserted or substituted sequences that encode information not typically found in nature. Other changes the team made to the synthetic genome included disrupting a gene to block infectivity. To obtain the cassettes the JCVI team worked primarily with the DNA synthesis company Blue Heron Technology, as well as DNA 2.0 and GENEART.

From here, the team devised a five stage assembly process where the cassettes were joined together in subassemblies to make larger and larger pieces that would eventually be combined to build the whole synthetic M. genitalium genome. In the first step, sets of four cassettes were joined to create 25 subassemblies, each about 24,000 base pairs (24kb). These 24kb fragments were cloned into the bacterium Escherichia coli to produce sufficient DNA for the next steps, and for DNA sequence validation.

The next step involved combining three 24kb fragments together to create 8 assembled blocks, each about 72,000 base pairs. These 1/8th fragments of the whole genome were again cloned into E. coli for DNA production and DNA sequencing. Step three involved combining two 1/8th fragments together to produce large fragments approximately 144,000 base pairs or 1/4th of the whole genome.

At this stage the team could not obtain half genome clones in E. coli, so the team experimented with yeast and found that it tolerated the large foreign DNA molecules well, and that they were able to assemble the fragments together by homologous recombination. This process was used to assemble the last cassettes, from 1/4 genome fragments to the final genome of more than 580,000 base pairs. The final chromosome was again sequenced in order to validate the complete accurate chemical structure.

The synthetic M. genitalium has a molecular weight of 360,110 kilodaltons (kDa). Printed in 10 point font, the letters of the M. genitalium JCVI-1.0 genome span 147 pages.

“This is an exciting advance for our team and the field. However, we continue to work toward the ultimate goal of inserting the synthetic chromosome into a cell and booting it up to create the first synthetic organism,” said Dan Gibson, lead author.

The research to create the synthetic M. genitalium JCVI-1.0 was funded by Synthetic Genomics, Inc.

Background/Key Milestones in JCVI’s Synthetic Genomics Research

The work described by Gibson et al. has its genesis in research by Dr. Venter and colleagues in the mid-1990s after sequencing M. genitalium and beginning work on the minimal genome project. This area of research, trying to understand the minimal genetic components necessary to sustain life, began with M. genitalium because it is a bacterium with the smallest genome that we know of that can be grown in pure culture. That work was published in the journal Science in 1995.

In 2003 Drs. Venter, Smith and Hutchison (along with JCVI's Cynthia Andrews-Pfannkoch) made the first significant strides in the development of a synthetic genome by their work in assembling the 5,386 base pair bacteriophage ΦX174 (phi X). They did so using short, single strands of synthetically produced, commercially available DNA (known as oligonucleotides) and using an adaptation of polymerase chain reaction (PCR), known as polymerase cycle assembly (PCA), to build the phi X genome. The team produced the synthetic phi X in just 14 days.

In June 2007 another major advance was achieved when JCVI researchers led by Carole Lartigue, Ph.D., announced the results of work on genome transplantation methods allowing them to transform one type of bacteria into another type dictated by the transplanted chromosome. The work was published in the journal Science, and outlined the methods and techniques used to change one bacterial species, Mycoplasma capricolum, into another, Mycoplasma mycoides Large Colony (LC), by replacing one organism’s genome with the other one’s genome.

Genome transplantation was the first essential enabling step in the field of synthetic genomics as it is a key mechanism by which chemically synthesized chromosomes can be activated into viable living cells. Today’s announcement of the successful synthesis of the M. genitalium genome is the second step leading to the next experiments to transplant a fully synthetic bacterial chromosome into a living organism and “boot up” the cell.

Ethical Considerations

Since the beginning of the quest to understand and build a synthetic genome, Dr. Venter and his team have been concerned with the societal issues surrounding the work. In 1995 while the team was doing the research on the minimal genome, the work underwent significant ethical review by a panel of experts at the University of Pennsylvania (Cho et al, Science December 1999:Vol. 286. no. 5447, pp. 2087 – 2090). The bioethical group's independent deliberations, published at the same time as the scientific minimal genome research, resulted in a unanimous decision that there were no strong ethical reasons why the work should not continue as long as the scientists involved continued to engage public discussion.

Dr. Venter and the team at JCVI continue to work with bioethicists, outside policy groups, legislative members and staff, and the public to encourage discussion and understanding about the societal implications of their work and the field of synthetic genomics generally. As such, the JCVI’s policy team, along with the Center for Strategic & International Studies (CSIS), and the Massachusetts Institute of Technology (MIT), were funded by a grant from the Alfred P. Sloan Foundation for a 20-month study that explored the risks and benefits of this emerging technology, as well as possible safeguards to prevent abuse, including bioterrorism. After several workshops and public sessions the group published a report in October 2007 outlining options for the field and its researchers.

About the J. Craig Venter Institute

The JCVI is a not-for-profit research institute dedicated to the advancement of the science of genomics; the understanding of its implications for society; and communication of those results to the scientific community, the public, and policymakers. Founded by J. Craig Venter, Ph.D., the JCVI is home to approximately 400 scientists and staff with expertise in human and evolutionary biology, genetics, bioinformatics/informatics, information technology, high-throughput DNA sequencing, genomic and environmental policy research, and public education in science and science policy. The legacy organizations of the JCVI are: The Institute for Genomic Research (TIGR), The Center for the Advancement of Genomics (TCAG), the Institute for Biological Energy Alternatives (IBEA), the Joint Technology Center (JTC), and the J. Craig Venter Science Foundation. The JCVI is a 501 (c)(3) organization. For additional information, please visit http://www.JCVI.org.

 



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A DNA-Driven World

 

Dr.  J Craig Venter’s Lecture on BBC One -Presented as the Annual Richard Dimbleby Lecture On Dec 4th, 2007

 The text of the lecture follows:

Thank you for the kind introduction. It is a great honor to be presenting the 2007 Dimbleby Lecture as only the third American, and one of just a handful of scientists out of the 32 Dimbleby Lectures.

I have called this lecture A DNA-Driven World, because I believe that the future of our society relies at least in part on our understanding of biology and the molecules of life - DNA. Every era is defined by its technologies. The last century could be termed the nuclear age, and I propose that the century ahead will be fundamentally shaped by advances in biology and my field of genomics, which is the study of the complete genetic make-up of a species.

Our planet is facing almost insurmountable problems, problems that governments on their own clearly can't fix. In order to survive, we need a scientifically literate society willing and able to embrace change - because our ability to provide life's essentials of food, water, shelter and energy for an expanding human population will require major advances in science and technology.

In this lecture I will argue that the future of life depends not only in our ability to understand and use DNA, but also, perhaps in creating new synthetic life forms, that is, life which is forged not by Darwinian evolution but created by human intelligence.

To some this may be troubling, but part of the problem we face with scientific advancement, is the fear of the unknown - fear that often leads to rejection.Science is a topic which can cause people to turn off their brains. I contend that science has failed to excite more people for at least two reasons: it is frequently taught poorly, often as rote memorization of complex facts and data, and it is antithetical to our visceral-driven way we live and interact with our world.

As a young student I was very turned off by the forced memorization of seemingly trivial facts which were, I felt, at the expense of true understanding. Instead I was much more interested in discovering and living in my world - I caught frogs and snakes, built boats and explored my surroundings.

In the past, science and the world used to seem easier to understand when discovery was based directly on our human senses. For example, when Darwin visited the Galapagos on his epic voyage he was able to see with his own eyes the flightless cormorants, the giant tortoises and the swimming and diving iguanas. From this sensory experience, he was able then to relate what he saw in the Galapagos to his other observations and develop a new context for understanding life by proposing the theory of evolution.

When Galileo developed the telescope, the wonders of the skies were truly illuminated for humans by expanding the capabilities of our visual system. Scientists have continued to extend our vision to glimpse distance galaxies that are not even faint stars in the sky to our naked eyes. Microscopes have helped us see further into the inner world of biology, first to cells then to molecules, all advances taking us well beyond our own physiological capabilities.

Our ability to see, hear, smell, taste, and feel the world around us are wonderful evolutionary developments upon which we base our daily lives. We can recognize and respond to the minor facial differences in how the 6.5 billion of us on Earth appear, but also to minute changes in facial expression indicating astonishment, pleasure, fear, love, and hate. We devote a substantial amount of modern human existence and our economy, appealing to our love of visual and audio stimulation.

In addition to our obvious senses, we have other remarkable capabilities that most of us are not aware of, but affect our lives from minute to minute. For example, while we cannot see, taste or feel carbon dioxide, we are extraordinarily sensitive to minute changes of CO2 concentrations in our bodies. It is carbon dioxide not oxygen that controls our breathing.

But as science has advanced, it has gone far beyond the immediately sensed world. It is now a world filled with dark matter in space, x-rays, gamma-rays, ultra violet light, DNA, genes, chromosomes, and bacteria that live in and around us in staggering numbers. We can't detect these directly, yet we feel the consequences of all of them. We are also now bombarded by information on wars, acts of terror, climate change and global warming, devastating storms, fuel shortages, emerging infections, flu pandemics, HIV, stem cells, animal cloning, genetically modified plants, and now the possibility of synthetic life forms, all while trying to cope with complexities of our daily lives. It is no great surprise then that there is a global resurgence of fundamentalism, a desire to get back to what appeared to be a simpler time, and a time when our primary senses and simple rules appeared to determine our life outcomes.

But I believe such a view is both simplistic and dangerous because it avoids the issues we need to face.Our planet is in crisis, and we need to mobilise all of our intellectual forces to save it. One solution could lie in building a scientifically literate society in order to survive.

While we share most of our senses with the rest of the animal world, we have a most unique and exciting evolutionary development - our brain. It provides us the ability to think, to reason, to predict and ponder the future. It enables us to ask questions and gives us the extraordinary capability to take over our own evolution by building complex tools that extend human capabilities millions of times further than would happen even with another billion years of evolution.

To begin the process of change we need to start with our children by teaching them in place of memorization, to explore, challenge, and problem solve in an attempt to understand the world around them, and most especially the world they cannot "see" or feel directly. Perhaps, we can also start by changing the way we teach science in our schools.

Many studies continue to relay sobering facts about the state of our science and math education in both the United States and the United Kingdom. A recent study compared math and science scores of 12 to 13-year-olds from each US state to their counterparts in both the developed and developing world. While it conveyed some good information, namely that the US and UK are doing better than in previous years, it still showed that compared to countries such as Singapore, Taiwan, Japan and China even the best US states and England still lag behind. The good news for England however, is that you've outperformed the US in science scores. This might be due in part to the fact that half of all US citizens believe that humans coexisted with dinosaurs, or the 25% who don't know the Earth revolves around the sun, and the 58% who cannot calculate a 10% tip on a restaurant bill. With this poor state of basic knowledge, how can we hope to survive the ever growing complexities of modern life?

This lack of knowledge is only part of the issue. In the US only 16% of all post-secondary education degrees are in math, science, or engineering, compared to 52% for China. And unfortunately those numbers are not all that different in the UK. If science and engineering are not national and global priorities how can we expect to cope with the complexities ahead and/or compete with nations that do value science?

So what can we do to change this situation? One solution could be new teaching methods aimed at exciting students about discovery.

I did not get excited about science until after I was drafted into the military during the Vietnam War and ended up in the medical corps. It was only there in the chaos of war that I learned firsthand that knowledge had real life and death consequences. While I went on to pursue a career in science after serving in Vietnam, I wish that my interest in science had been stimulated much sooner. We now know that to motivate students, particularly girls, for careers in science we need to capture their attention early.

At the Venter Institute we have developed a mobile genomics laboratory to bring the science of genomics to 12 and 13-year-olds to expose these students to scientific problem solving and the excitement of science. We started out with the simple idea of outfitting a large bus as a research laboratory, and then, working with schools, we developed learning modules taught by very enthusiastic and hands-on teachers. The results have been overwhelming. While many were at first skeptical of the program, because it was new and different from the standard lesson plans, we now have a waiting list for participants and we have constant calls and emails from parents and teachers who want the bus to come to their schools.

I think this program succeeds, because in each lesson plan we convey the wonderment of discovery and problem solving. For example, one lesson involves solving a crime scene investigation using DNA analysis much like is done in a popular TV program CSI. Had I been exposed to science in this real world manner I might have had a much better educational experience and at an earlier stage forged a stronger interest in science.

There are also science intensive schools that are trying alternative teaching methods. One such school in Virginia is teaching students to be more like scientists - to use inquiry-based learning and encouraging them to do experiments they designed themselves rather than age-old text book experiments and lessons heavy on memorization. These students are learning what I learned on my own while doing research as an advanced university student: that there is no greater intellectual joy than asking seemingly simple questions about life, then designing an experiment to find answers and uncovering a never before known discovery. We need generations of children who are grounded in reality and who learn evidenced-based decision making as a life-long philosophy. Teaching science as evidence-based decision making could have a profound impact on the pace of future discoveries and inventions. Simply asking what is the evidence behind any claim is a marked contrast to approaching life only upon a faith-based system.

Fostering such scientific literacy is crucial, because we and our planet are facing problems that, I believe, can only be solved by scientific advancement.There are those who like to believe that the future of life on Earth will continue as it has in the past, but unfortunately for humanity, the natural world around us does not care what we believe. But believing that we can do something to change our situation using our knowledge can very much affect the environment in which we live.

Perhaps an even greater problem than scientific literacy, is that almost every aspect of our modern society is geared toward only dealing with problems after they have occurred, rather than focusing on prevention. We have a visceral response to tragedies, to wars, floods, disease, and famine because we can see the problem and see the need to correct it. A much more difficult approach for societies is to use our intellectual capacity to understand the possibility of preventing wars by not invading countries but using diplomacy, or repairing infrastructure before bridges and dams fail, or preventing diseases by changing our diet.

Medicine and health care are areas that desperately need to move toward a preventive philosophy. We need to understand that it is far more cost effective, with better life outcomes to prevent diseases rather than treat them after they occur.

The cost of health care is one of the fastest growing expenses. In 2005 total US health expenditures rose 6.9% - twice the rate of inflation. Total spending was a staggering $2trillion. US health care spending is expected to increase at similar levels for the next decade reaching $4trillion in 2015. That's 20% of GDP. But all this money does not seem to guarantee the highest quality health care. The World Health Organization in 2000 ranked the US health care system as 1st by expenditure but only 72nd on health. In contrast the UK was 26th by total expenditures and 24th on health.

If we take a look at the cost burden of just one disease, diabetes, the figures are astounding. Diabetes is a disease that when poorly managed leads to serious complications such as heart disease, stroke, blindness, kidney failure, and nerve disease.

According to the US Centers for Disease Control, the total cost of diabetes to US society is $132billion each year. The average annual health care costs for a person with diabetes, is over five times that of someone without the disease. In the UK it is estimated that 9% of the annual NHS budget or over £5.2billion goes to diabetes care. Many studies have shown that simple preventive measures such as a healthier diet and moderate exercise such as walking can lead to dramatic reductions in the rate of disease onset and can eliminate or greatly reduce the incidence of complications.

Preventative medicine is the only way forward that I see for lowering the cost of health care other than the unacceptable approach of denying access. One of the keys to preventative medicine will be an understanding of our genetic risk for future diseases along with a greater understanding of the corresponding environmental influences of disease.

Just three months ago in September, we published the first complete human genome sequence and now it is available to all on the internet. The human genome comprises all the genetic information that we inherit from both of our parents in the form of 46 chromosomes, 23 from each parent. Chromosomes are in turn long stretches of DNA which is composed of four different chemical letters known simply as A, T, C and G. Our genome has six billion of these genetic letters. The genome we published contained both sets of chromosomes from each of my parents. I say my parents because it was my own genome that was sequenced and published.

I chose to decode my DNA because in the complex debate concerning deterministic views of genetic outcomes and the fears that many have voiced about revealing all their genetic secrets. I as a leader in this field, wanted to show that we don't have to fear our genetic information. Our genetic code is not deterministic and will provide us very few yes-no answers. It will, however, provide probabilities concerning outcomes that we will eventually be able to influence. It seemed far better to me to use my own genome, rather than trying to convince anyone else that it was ok for them.

One of the more exciting findings from our study is that any two humans differ from each other by about 1-2%, not the 0.1% that we thought was the case when we sequenced the first draft of the human genome earlier in the decade. This data is much more comforting as it is clear to me that we are all much more individualistic than previously thought. One of the key questions that I frequently get asked is what have I learned from my genome and is there information that I can do something about?

Let me give you a few examples to illustrate some of what I have found. For example, like many people, I reach for my inhaler in smoggy conditions. Genetics contributes to this susceptibility and researchers have focused on a certain family of enzymes that help detoxify everything from carcinogens to pharmaceuticals. There is a gene that is associated with the ability to degrade environmental toxins, however nearly half of the Caucasian population lacks that gene. In my own genome I found only one copy that I received from one parent and none from the other, so perhaps that is why I am more susceptible to environmental toxins.

As a depressing bonus, given its detoxifying role, this genetic deficiency may make me more susceptible to particular chemical carcinogens, and there is an association with lung and colorectal cancers.

From my genome I also became aware of genes that confirmed my increased risk for heart disease. The most common cause of heart disease is atherosclerosis, in which calcium, along with fats and cholesterol, collects in the blood vessels to form plaques, which can trigger a heart attack or stroke. One gene called APO E is responsible for regulating levels of certain fats in the bloodstream. Variants here have been linked with heart disease and also to Alzheimer's disease. Both of these could be in the cards for me. Fortunately, by reading my own genome, I have a chance to overcome my genetics by making changes in my diet and exercise. I am also taking a statin, a fat-lowering drug, as part of my preventative medicine paradigm. Statins also shows some hints of prevention of Alzheimer's disease.

Hundreds more genes are linked with coronary disease, from heart attacks to high blood pressure and narrowing of blood vessels. My genome carries lower risk versions of some genes and higher risks versions of others, but it will take time for us to understand the complicated way they interact with each other and how to predict a true risk profile.

However, one genetic change that probably lowers my risk for a heart attack is associated with my body's ability to rapidly metabolize caffeine. I drink many cups of coffee per day but fortunately, I carry the rapid metabolizing version of the gene. Some genes only become harmful in combination with a certain lifestyle - drinking coffee, tea or other drinks with caffeine. Some individuals carry a mutation that slows down caffeine metabolism and, as a result, increases an individuals' risk of having a heart attack on drinking tea or coffee. A study of around 4,000 people showed that the risk of heart attack increased 64% with four or more cups of coffee per day, compared with patients who drank less than one cup per day. However, the corresponding risk was less than 1% for individuals, who like me, had two copies of a rapid metabolizing version of the gene. These genetic differences may explain why many studies looking at the association between caffeine consumption and heart attack risk have been inconclusive, because we are not genetically identical and do not all respond in the same way.

These are just a handful of illustrations that hint at the type of information that will be possible for all of us in the near future.At my institute we are now scaling up to sequence the genomes from 10,000 people. This will provide a massive and powerful database, particularly when linked with clinical records and life outcomes. At that stage, we will have a much clearer view of the genetic basis of humanity.

I feel that new laws are needed to prevent an individual's genetic code from being used as a basis of discrimination in education, employment or access to health care. The genetic code will give us probabilities about disease risk and the ability to understand environmental factors linked to genetics. Will governments, businesses and insurance companies pay the smaller amount in advance to prevent disease? Or will we be locked into the current system of treating only what we can see?

Being an optimist I believe that we can ultimately solve the health care issue. But the fundamental problem facing our planet - that of climate change - is one that is far more grave. In fact, unless we tackle this head on, health care could be the least of our worries.

There has been much debate about climate change perhaps because we cannot see carbon dioxide when we exhale, or when we burn oil and coal to heat our homes, or use petrol to power our cars or fly planes. We do, however, have scientific instruments that can accurately measure what we humans produce and the increasing amount of carbon that we are adding to our environment.

The data is irrefutable - carbon dioxide concentrations have been steadily increasing in our atmosphere as a result of human activity since the earliest measurements began. We know that on the order of 4.1 billion tons of carbon are being added to and staying in our atmosphere each year. We know that burning fossil fuels and deforestation are the principal contributors to the increasing carbon dioxide concentrations in our atmosphere. We know that increasing CO2 concentrations has the same effect as the glass walls and roof of a greenhouse. It lets the energy from the sun easily penetrate but limits its escape, hence the term greenhouse gas.

Observational and modeling studies have confirmed the association of increasing CO2 concentrations with the change in average global temperatures over the last 120 years. Between 1906 and 2005 the average global temperature has increased 0.74 degrees C. This may not seem like very much, but it can have profound effects on the strength of storms and the survival of species including coral reefs.

Eleven of the last 12 years rank among the warmest years since 1850. While no one knows for certain the consequences of this continuing unchecked warming, some have argued it could result in catastrophic changes, such as the disruption of the Gulf Steam which keeps the UK out of the ice age or even the possibility of the Greenland ice sheet sliding into the Atlantic Ocean. Whether or not these devastating changes occur, we are conducting a dangerous experiment with our planet. One we need to stop.

The developed world including the United States, England and Europe contribute disproportionately to the environmental carbon, but the developing world is rapidly catching up. As the world population increases from 6.5 billion people to 9 billion over the next 45 years and countries like India and China continue to industrialise, some estimates indicate that we will be adding over 20 billion tons of carbon a year to the atmosphere. Continued greenhouse gas emissions at or above current rates would cause further warming and induce many changes to the global climate that could be more extreme than those observed to date. This means we can expect more climate change, more ice cap melts, rising sea levels, warmer oceans and therefore greater storms, as well as more droughts and floods, all which compromise food and fresh water production.

The increase in population coupled with climate change will tax every aspect of our lives. In a world already struggling to keep up with demand, will we be able to provide the basics of food, clean water, shelter and fuel to these new citizens of Earth? And will governments be able to cope with new emerging infections, storms, wildfires, and global conflicts?

So is there any way of avoiding these apocalyptic visions of the future coming true? Many have argued that we simply need to conserve, to alter and regress our standard of living and block the industrialization of developing countries. In my view this is extremely naive thinking. Furthermore, even the most optimistic models on climate change show a dramatically altered planet Earth going forward even if we embrace all alternative options such as wind and solar energy, and electric cars. Our entire world economy and the ability of modern society to provide life's basics, depend on the very industrialization that contributes to our possible demise.

Yet, sadly, very little thinking, planning or projections about how to cope with the carbon problem and climate change have taken into account the capabilities of modern science to produce what we have long needed to help solve these global threats.

It is clear to me that we need more approaches and creative solutions. We need new disruptive ideas and technologies to solve these critical global issues. This is where, I believe, biology and genomics, come in.

Wikipedia defines a disruptive technology or disruptive innovation as "a technological innovation, product, or service that eventually overturns the existing dominant technology or status quo product in the market." Well known examples of disruptive innovations include: telephones replacing telegraphs, cell phones replacing land lines, automobiles replacing horses and carriages and digital photography over film. We are clearly in need of a multitude of disruptive inventions to change our approach to energy and the challenges ahead of us.

Creating new technology is something my team and I have some familiarity with. When we joined the race to sequence the human genome in 1998 we did so with a completely new and relatively untried technique. I was called many things - audacious, arrogant, rebellious, and maverick - but the most flattering would have been disruptive. Few people thought our method would work but we proved them wrong. And within two years the first draft of the human genome was laid out for all to see.

Since then the field has advanced beyond all expectation. Utilising biology we have the ability to address every area of our lives - from medical treatment, to renewable sources of fuels. Plastics, carpets, clothing, medicines, and motor oil - all of these things can be created by biological organisms, and in an environmentally sustainable manner.

The pedantic argument concerning future inventions is how can we count on new technologies that don't yet exist? Some can look at the past and see no change for the future, while others will extrapolate forward in a liner manner. However, there are some fields where predicting and counting on exponential change has become reasonable and reliable. For example, Gordon Moore, a founder of the computer chip giant Intel, predicted that the density of transistors on integrated circuits would double every 2 years, a prediction that became referred to as Moore's Law. This rough rule of exponential change has now been applied to the electronics industry as a whole and specifically to computer memory and digital cameras. There is another version, called Butter's Law of Photonics. This law predicts that data transmission over optical fibers will double every nine months, and as a result, the cost of transmitting data decreases by half every nine months. We see the results of these predictions in ever faster, smaller and cheaper computers and faster data transmission which is probably a good thing as digital cameras with small memory cards exceed the capacity of computers on the market just barely a decade ago.

This kind of exponential growth is what has happened with our human population. It required close to 100,000 years for the human population to reach 1 billion people on Earth in 1804. In 1960 the world population passed 3 billion and now we are likely to go from 6.5 billion to 9 billion over the next 45 years. I was born in 1946 when there were only about 2.4 billion of us on the planet, today there are almost three people for each one of us in 1946 and there will soon be four.

If such predictions of exponential change have come true for the electronics industry, and the population, then isn't it possible the same could hold true for changing education, medicine, replacing the petrochemical industry, and saving the environment?

Similar exponential growth is seen in genomics - a term that did not even exist prior to the Eighties. While the initial discoveries came slowly, they were followed by an ever increasing pace of change. For example, in 1955 Fred Sanger at Cambridge determined the sequence of the protein insulin. It was the first protein to be sequenced in history. Twenty-one years later in 1976 and 1977 the first two viral genomes were decoded. However, it would be 18 more years in 1995 when my team used disruptive techniques to decode the first genome of a living organism, Haemophilus influenzae, a bacterium that causes ear infections and meningitis in children. This genome has 1.8 million letters of genetic code making it 300 times the size of the first viral genomes.

Armed with this new method only 5 years later, we increased the scale of what we did by 100 times by determining the first insect genome, the fruit fly, which had 180 million letters of genetic code. We followed this one year later with the 3 billion base pair haploid human genome which was equivalent to over 600,000 viral genomes and over 1,600 bacterial genomes.

So over a short period of time genome projects, which 10 years ago required several years to complete, now take only days. Within 5 years it will be common place to have your own genome sequenced. Something that just a decade ago required billions of pounds and was considered a monumental achievement. Our ability to read the genetic code is changing even faster than changes predicted by Moore's Law.

Using genomics has also rapidly accelerated the discovery of new species. Earlier this year from my institute's Sorcerer II Expedition, which included a sailing circumnavigation on my 95 foot yacht, Sorcerer II, we applied the tools we developed for decoding the human genome and used them to decode the DNA of the world's oceans. We published a single scientific paper describing over 6 million new genes. This one study more than doubled the number of genes known to the scientific community and the number is likely to double again in the next year.

We are now using similar approaches to identify the microbes that live inside of us. We have identified more microbes in our guts than the 100 trillion human cells we have in our bodies. We have also catalogued the tens of thousands of microbes and viruses that are in the air we breathe.

These modern tools of genomics and DNA sequencing are rapidly revealing to us the incredible world of microbes that we exist within and exist within us.Young students of science can today make more discoveries in one year than major institutions or countries could make in a decade just a short while ago.

So, what is the value of these discoveries? The answer is many things but one of the most important is a better understanding of life and its evolution on Earth. And what can we do with all this new information that is coming at an exponential pace? We can use these millions of newly discovered organisms and genes to tell us how the environment is changing as a result of human activities.

But above all I believe the best examples of disruptive technologies that could change our future are in the new fields of synthetic biology, synthetic genomics, and metabolic engineering. These fields can change the way we think about life by showing that we can use living systems to increase our chances of survival as a species. Simply put: this area of research will enable us to create new fuels to replace oil and coal.

Imagine scientists in the near future sitting at their computers and designing the chromosome of a new organism, an organism that perhaps could produce fuels biologically, fuels like octane, diesel fuel, jet fuel even hydrogen all from sugar or even sunlight with the carbon coming from carbon dioxide.

Imagine that after designing the new chromosome, the computer directed a robot to chemically make the DNA strand encoding all that information, and that once constructed, the new chromosome would be inserted into a bacterial cell where it becomes activated causing the cell to turn into the species that the scientist designed. And now imagine that new species in a bio-reactor making millions of copies of itself and each copy is producing a new fuel from only renewable sources. Sounds like science fiction right? Not to me, because I believe this is the future.

For the past 15 years at ever faster rates we have been digitising biology. By that I mean going from the analog world of biology through DNA sequencing into the digital world of the computer. I also refer to this as reading the genetic code. The human genome is perhaps the best example of digitising biology. Our computer databases are growing faster per day then during the first 10 years of DNA sequencing. The databases have been filling even faster with the results of our global ocean sequencing project. As a result we have now over 10 million genes in the public databases, the majority of which have been contributed by my teams.

We and others have been working for the past several years on the ability to go from reading the genetic code to learning how to write it. It is now possible to design in the computer and then chemically make in the laboratory, very large DNA molecules. A few months ago we published a scientific study in the journal Science where we described the ability to take a chromosome from one bacterium and place it into a second bacterial cell. The result was astonishing - the new DNA that we added changed the species completely from the original one into the species defined by the added DNA. You could describe this as the ultimate in identity theft.

Again, maybe this sounds like science fiction, but I think it is actually a key mechanism of evolution, that could be largely responsible for the wide range of diversity that we see. Instead of evolution happening only due to random mutations that survived selective pressure, we can see how by adding chromosomes to or exchanged between species, that thousands of changes could happen in an instant.

Now they can happen not just by random chance but by deliberate human design and selection. Human thought and design and specific selection is now replacing Darwinian evolution.

One of the most significant and unique features of our research in synthetic genomics that often gets overlooked by the news media, is the long history, starting from the beginning of this work in 1995 and continuing today, of ethical review. As with the past 30 years of molecular biology, the organisms being designed cannot survive outside of the laboratory and are subject to strict containment. While we don't want students doing this work in their basements, this new field is stimulating an exciting new interest in biological studies.

Right now extensively modified bacteria are being used to make food additives and industrial chemicals. DuPont has a plant in the US state of Tennessee with four very large silos where they are using metabolically engineered bacteria to convert sugar into a new polymer, propanediol which is the key component in their stain resistant carpets and clothing. Several teams, including my own, are modifying bacteria to make the next generation biofuels. For example, my team has a new fuel chemical made from sugars as a starting material that has the potential to be one of the first green jet fuels.

But we don't always have to modify bacteria or design new ones. What has occurred on Earth from Darwinian evolution is pretty amazing in that the unique metabolism of these microbial powerhouses can often provide exactly what we need. For instance, we have a team at my institute headed by Ken Nealson that has developed microbial fuel cells using naturally occurring bacteria. These organisms can process human and animal waste to produce electricity and or clean water.

At my company Synthetic Genomics, we have a major program underway in collaboration with BP to see if we can use naturally occurring microbes to metabolise coal into methane which can then be harvested as natural gas. While not a renewable source of carbon, it could provide as much as a 10 fold improvement over mining and burning coal. We also have organisms that can convert CO2 into methane thereby providing a renewable source of fuel.

The biggest question in my mind is the one of scale. Last year we consumed more than 83 million barrels of oil per day or 30 billion barrels during the year. In addition we used over 3 billion tons of coal. These are mind boggling numbers and the only way that I can see replacing oil and coal is through a widely distributed system. If there were one million bio-refineries around the globe each one would still need to produce 17,000 liters per day. For the UK my vision would entail thousands of bio-refineries distributed around the country near where the fuel would be consumed and where the starting raw material such as cellulose would be available. On a global scale there will be millions of new fuel producers perhaps favoring the agricultural rich developing world. This could be the ultimate disruptive model by changing the entire infrastructure for energy production and consumption and helping us toward a carbon neutral world.

In closing:

It is my hope that we can embrace, not fear, the necessary science to help our planet. I feel it is imperative that we begin to find ways to adapt to climate change, while at the same time working to mitigate it. Unfortunately we are already on a path toward significant change, but if we apply ourselves I believe we can find ways to create alternatives to burning oil and coal. We need multiple simultaneous approaches to solve this problem, with the goal of net zero carbon emissions to stabilize atmospheric concentrations and ensure our survival. These are massive challenges for each and every one of us. For our children's future and for the future of our species and our planet I hope that we can rise to the challenge.

Thank you very much.

 



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deCODE Genetics Launches deCODEme™

 

 -The company that has led in the discovery of genes that confer risk of common diseases is empowering individuals to explore their own genome-

 

VIEW VIDEO About Decodeme

 

Reykjavik, ICELAND---deCODE genetics announced the launch of deCODEme™, a pioneering service that enables individuals to get a detailed look at their own genome. 

 

Through your subscription to deCODEme™, you can learn what your DNA says about your ancestry, your body --traits such as hair and eye color-- as well as whether you may have genetic variants that have been associated with higher or lower than average risk of a range of common diseases. This information will be continually updated as new discoveries are made.

 

Subscribers will create a secure password-controlled personal account. Just a few weeks after sending in a simple cheek swab, customers will receive expert analysis of more than a million key variants across their genome, accessible through an easy-to-use and intuitive user interface.

 

With deCODEme™, your DNA is in the hands of a global leader in human genetics. In more than a decade of pioneering research, deCODE has analyzed the genomes of hundreds of thousands of people from around the world, developing an unrivalled track record in gene discovery, in systems for genetic analysis, as well as data and privacy protection. deCODEme™ puts this expertise to work for you. The introductory promotional price of a subscription to deCODEme is $985. Starting today, deCODEme™ is accepting subscription orders and we will be soliciting feedback from these first customers to optimize the service experience. To learn more about deCODEme™ and how to order, visit www.deCODEme.com, and watch the webcast announcement today at 9AM am EST through deCODE’s website, www.decode.com. 

 

“We are pleased to announce the launch of this ground breaking service. Just a few short years after the first completed sequencing of a human genome in 2003, it is now possible to analyze on a single computer chip a large proportion of all of the variations in the genome that make each and every one of us unique. Your genome is yours to discover. In an era when we are encouraged to take greater personal control of our lifestyle and health, we believe we should all have the opportunity to learn what our own genome can tell us about ourselves," said Kari Stefansson, MD, PhD, CEO of deCODE. "You have the opportunity to take advantage of the best that science has to offer when you learn about disease risks associated with your genetic variations and ancestry with deCODEme™ and you have the opportunity to engage in a fun and interesting exchange when you compare your results to those of your friends. This service is about you, and so we will integrate the feedback that we get from our first subscribers to continue to optimize it, to make deCODEme™ what you want it to be. We invite you to learn more about the service and yourself."

 

deCODEme™ – It’s all about you

deCODEme™ is a unique way to get to know yourself better -- from the inside out. Our genomes are more than 99% identical, but in that one percent are millions of tiny variations that make you unique. Through deCODEme™ you can take steps toward learning how your genome makes you unique, in the context of cutting edge science and in ways that are both fascinating and informative. You can learn about your ancestry, about obvious and potentially quirky traits, and whether you have certain genetic variations that are known to be associated with an above or below average risk of certain common diseases. You can even decide with family and friends to compare genomes and discover which blocks of DNA code you share. As new discoveries are made, you will receive updates and be able to check your genome against the breakthroughs in the headlines.

 

When you open your deCODEme™ account you create your own username and password and have full control of information and data comparison with your friends and family. You can even create an anonymous account if you wish. And if you have questions, you can consult with our experts at no additional cost. Best of all, you have the peace of mind of knowing that deCODEme™ is offered by deCODE genetics – a proven leader in the field.  When your DNA comes to us, our expert staff analyze it and post it to a secure web portal right here at deCODE. Neither your sample nor any of your data will be accessible to or shared with anyone but you and those that you designate.

About decode

 

deCODE genetics (Nasdaq:DCGN) is a global leader in applying human genetics to develop drugs and diagnostics for common diseases. Our population approach has enabled us to discover and target key biological pathways involved in conditions ranging from heart attack to cancer. We are turning these discoveries into new medicine to better treat and prevent many of the biggest challenges to public health. deCODE is delivering on the promise of the new genetics SM. Visit us on the web at www.decode.com, and on our diagnostics site at www.decodediagnostics.com.

 

Any statements contained in this presentation that relate to future plans, events or performance are forward-looking statements within the meaning of the Private Securities Litigation Reform Act of 1995.  These forward-looking statements are subject to a number of risks and uncertainties that could cause actual results to differ materially from those described in the forward-looking statements.  These risks and uncertainties include, among others, those relating to technology and product development, integration of acquired businesses, market acceptance, government regulation and regulatory approval processes, intellectual property rights and litigation, dependence on collaborative relationships, ability to obtain financing, competitive products, industry trends and other risks identified in deCODE’s filings with the Securities and Exchange Commission.  deCODE  undertakes no obligation to update or alter these forward-looking statements as a result of new information, future events or otherwise.

 

The deCODEme services are being offered by deCODE's Icelandic subsidiary, deCODE genetics ehf.

 

 

 




 

 

 

A Policy Report on Synthetic Genomics : by J. Craig Venter Institute (JCVI), the Center for Strategic & International Studies (CSIS), and the Massachusetts Institute of Technology (MIT)

 

Read the Comprehensive Report: “Synthetic Genomics: Options for Governance”  

 

 October , 2007—Policy experts from the J. Craig Venter Institute (JCVI), the Center for Strategic & International Studies (CSIS), and the Massachusetts Institute of Technology (MIT) announced the release of a report, “Synthetic Genomics: Options for Governance,” which outlines areas for interventions and policy options to help mitigate potential risks with this promising area of research. The report, funded by a grant from the Alfred P. Sloan Foundation, resulted from 20 months of in-depth study, review and analysis by the teams above and a core group of 14 experts.

 

Synthetic genomics is a field of research in which scientists use chemically created pieces of DNA (called oligonucleotides or oligos) to design and assemble chromosomes, parts of chromosomes, genes and gene pathways. Scientists foresee many potential positive applications including new pharmaceuticals and biologically produced, green fuels. However, as with many technologies, there is the potential for misuse and accidents.

 

The core group set out to analyze the state of the technology in synthetic genomics and to develop a comprehensive set of options for policy makers, researchers, and companies in the field. The report includes options that help to enhance biosecurity, foster laboratory safety, and protect the communities and environment outside of laboratories.

 

“Designing ways to impede malicious uses of the technology while at the same time not impeding, or even promoting beneficial ones, poses a number of policy challenges for all who wish to use or benefit from synthetic genomics” said Michele Garfinkel, policy analyst at JCVI and lead author of the report. Gerald Epstein, of the CSIS Homeland Security Program and a co-author on the report added, “We have formulated governance options that attempt to reduce security- and safety risks without imposing undue burdens on researchers, industry, or government.”

 

In addition to Garfinkel and Epstein, the core group was led by Robert M. Friedman of JCVI and Drew Endy of MIT, and convened a series of workshops to hear directly from synthetic genomics researchers, commercial suppliers of synthesized DNA, policy analysts who focus on bioterrorism issues, and those who focus on the legal, ethical, and societal implications of biotechnology. After these workshops, the group developed a preliminary report and offered this for discussion and input at a public meeting held in Washington, DC for policymakers, the media, non-governmental groups and scientists. These interested parties were also invited to submit comments to the authors for potential inclusion into the final report.

 

The group identified three areas for policy intervention and outlined policy options for each intervention point. Drew Endy noted, “Our report draws upon the perspectives of many different stakeholders, including developers and users of DNA synthesis technology, as well as the biosecurity community. We hope that our efforts will help ongoing discussions of the responsible use of synthetic genomics techniques and tools.”

 

The first set of options applies to firms that supply synthetic DNA, both those that supply gene- and genome length strands of DNA and those that supply much shorter oligonucleotides. This set includes the option, for example, that firms must use special software to screen orders for potentially harmful DNA.

 

The second set of options is aimed at the oversight or regulation of DNA synthesizers and reagents used in synthesis. For example, owners of DNA synthesizers might be required to register their machines, or that licenses might be required in order to purchase specific chemicals needed to synthesize DNA.

 

The final set of options is aimed exclusively at legitimate users of synthetic genomics technologies. The options cover both the education of users (e.g., modules in university courses that explicitly discuss the risks and best practices when using these new technologies) and prior review of experiments (for example, expanding the roles of institutional biosafety committees to review a broader range of “risky” experiments).

 

For more information about the report and to download a copy, please visit

http://www.jcvi.org/research/synthetic-genomics-report,  http://www.csis.org,  or http://web.mit.edu/

 

J. Craig Venter Institute

The JCVI is a not-for-profit research institute dedicated to the advancement of the science of genomics; the understanding of its implications for society; and communication of those results to the scientific community, the public, and policymakers. Founded by J. Craig Venter, Ph.D., the JCVI is home to approximately 400 scientists and staff with expertise in human and evolutionary biology, genetics, bioinformatics/informatics, information technology, high-throughput DNA sequencing, genomic and environmental policy research, and public education in science and science policy. The legacy organizations of the JCVI are: The Institute for Genomic Research (TIGR), The Center for the Advancement of Genomics (TCAG), the Institute for Biological Energy Alternatives (IBEA), the Joint Technology Center (JTC), and the J. Craig Venter Science Foundation. The JCVI is a 501 (c)(3) organization. For additional information, please visit http://www.JCVI.org. 

 

Center for Strategic & International Studies

CSIS is an independent, nonpartisan policy research organization. It has provided world leaders with strategic insights on—and practical policy solutions to—current and emerging global issues for over 40 years. The Center has extensive experience examining issues at the intersection of science and security, analyzing and mitigating terrorist threats, and combating weapons of mass destruction. The CSIS staff includes more than 120 analysts working to address the changing dynamics of international security and economics. http://www.csis.org  

 

Massachusetts Institute of Technology

MIT is an educational and research university located in Cambridge, Massachusetts. The mission of MIT is to advance knowledge and educate students in science, technology, and other areas of scholarship that will best serve the nation and the world in the 21st century. Its five schools and one college encompass 34 academic departments, divisions, and degree-granting programs, as well as numerous interdisciplinary centers, laboratories, and programs whose work cuts across traditional departmental boundaries. http://web.mit.edu/  

 

Alfred P. Sloan Foundation

Alfred P. Sloan Foundation, a philanthropic nonprofit institution, was established in 1934 by Alfred Pritchard Sloan, Jr., then president and chief executive officer of the General Motors Corporation. The Foundation makes grants in science, technology and the quality of American life. The Foundation's bioterrorism program promotes plans and practices that citizens and organizations can use to defend themselves against terrorism and also supports efforts to monitor dangerous research in the life sciences. http://www.sloan.org

 

 

Source: JCVI Institute Press Release

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PERSONAL GENOME SEQUENCING PROJECTS: JAMES WATSON AND CRAIG VENTER
  e-published on MedicineandBiotech.com, October 1st, 2007

When the Human Genome Project started, it was anticipated that it would take 15 years to sequence the 3 billion base pairs and identify all the genes. It was completed in 13 years in 2003 – coinciding with the 50th anniversary of the publication of the work of Dr. James Watson and Dr. Francis Crick that described the DNA double helix.

In May 2007, 454 Life Sciences Corporation, in collaboration with scientists at the Human Genome Sequencing Center, Baylor College of Medicine presented James Watson a DVD containing his personal genome – a project completed in only two months! This was followed by the publication of the personal genome of Craig Venter, President of the J. Craig Venter Institute in September, 2007. The personal genome of Craig Venter is published in the journal PLoS at http://biology.plosjournals.org/perlserv/?request=get-document&doi=10.1371/journal.pbio.0050254

The mapping of Dr. Watson’s genome was completed using the Genome Sequencer FLX™ system developed by 454 Life Sciences Corporation and marks the first individual genome to be sequenced for less than $1 million.

The sequencing of Dr. Watson’s genome validates the approach taken by 454 Life Sciences in developing a technology that makes sequencing of individual human genomes quick and affordable. This is another step by 454 Life Sciences on the path towards the $10 million Archon X Prize for Genomics and reducing the cost of human genome sequencing to $10,000. This is a hope towards a new era of medicine that is tailored to a patient's unique genetic profile.

The sequencing of Dr. Watson’s genome has been done on production Genome Sequencer FLX™ systems, which took advantage of the instrument’s high quality data and long read lengths. Using the unbiased 454 Sequencing™ technology, a near complete picture of Dr. Watson's genome was obtained and the missing pieces of the public reference genome generated by the Human Genome Project were identified. 454 Life Sciences is now acquired by Roche.

Researchers at the J. Craig Venter Institute (JCVI), along with collaborators at The Hospital for Sick Children (Sick Kids) in Toronto and the University of California, San Diego (UCSD), have published a genome sequence of J. Craig Venter that covers both of his chromosome pairs (or diploid genome), one set being inherited from each of his parents.

The other versions of the human genome currently include—one published in 2001 by Dr. Venter and colleagues at Celera Genomics, and another at the same time by a consortium of government and foundation-funded researchers. The first sequence and analysis of the human genome was published in Science in 2001 by Dr. Venter and colleagues at Celera Genomics. The publicly funded genome project also published their version of the human genome at the same time in the journal Nature. These genomes were not of any single individual, but rather were a mosaic of DNA sequences from various donors. In the case of Celera it was a consensus assembly from five individuals, while the publicly-funded version was based on patching together sequences from over 100 anonymous human sources. Both versions greatly underestimated human genetic diversity.

This new genome (called “HuRef”) represents the first time a true diploid genome from one individual—Dr. Venter, has been published. The research is available in the open access public journal, PLoS Biology. With this publication, Craig Venter’s team has shown that human to human variation is five to seven-fold greater than earlier estimates proving that we are in fact more unique at the individual genetic level than we thought.

For the HuRef project, the team at JCVI used a more traditional method of sequencing—whole genome shotgun assembly which is built upon Sanger dideoxy sequencing. Then, Applied Biosystems 3730xl high-throughput DNA sequencing machines were employed since these methods still produce the longest and most accurate lengths of DNA.

Within the human genome there are several different kinds of DNA variants. The most studied type is single nucleotide polymorphisms or SNPs, which are thought to be the essential variants implicated in human traits and disease susceptibility. A total of 4.1 million variants covering 12.3 million base pairs of DNA were uncovered in this analysis of Dr. Venter’s genome. Of the 4.1 million variations between chromosome sets, 3.2 million were SNPs. This is a typical number expected to be found in any other human genome, but there were at least 1.2 million variants that had not been described before. Surprisingly, nearly one million were different kinds of variants including: insertion/deletions (“indels”), copy number variants, block substitutions and segmental duplications.

While the SNP events outnumbered the non-SNP variants, the latter class involved a larger portion (74%) of the variable component of Dr. Venter's genome. This data suggests that human-to-human variation is much greater than the 0.1% difference found in earlier genome sequencing projects. The new estimate based on this data is that genomes between individuals have at least 0.5% total genetic variation (or are 99.5% similar) The researchers suggest that much more research needs to be done on these non-SNP variants to better understand their role in individual genomics.

Another important feature that is made possible by having an individual, diploid genome is the ability to generate more informed haplotype assemblies. Haplotypes are groups of linked variations along the chromosomes. Other studies have generated many common haplotypes, however these are based on averages of large populations rather than individuals. Individual haplotypes enable scientists to study rare or 'private' variants that might explain and help predict traits and diseases in that particular person—allowing an individualized approach in genomic applications.

In the HuRef analysis, the team used the heterozygous portion of the 4.1 million variant set and new algorithms to build haplotype assemblies. These haplotype assemblies were typically an order of magnitude larger than what can be achieved by genotyping a single individual, with over half the genome contained in segments greater than 200,000 base pairs in length. The JCVI researchers expect this number to improve significantly as additional sequence coverage is added to HuRef