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"The reasons why the Linux project could succeed against commercial wisdom have been analysed by Eric S. Raymond in his book The Cathedral and the Bazaar (O'Reilly, 1999). Most of these findings are of relevance to academic and commercial benefits arising from human genome sequencing." [via bioinformatics.org]
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"Tune to the show from 11 a.m.-noon EDT at www.informedinvestors.com or www.broadcast.com/shows/biotech, or via analog dial at WMET 1150 AM in Gaithersburg, MD. Listeners can send questions in real-time via email during the show to cohost Tim Quast at tim@informedinvestors.com."
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The bulk of the money will fund research that will generate the content of the database--information on drug responses in specific patient categories. But three investigators were awarded grants to create and apply bioinformatics tools that will make the data accessible.
Russ Altman of Stanford University was awarded $1.6 million to operate the Stanford Pharmacogenetics Knowledge Base (PharmGKB). NIH will give $421,000 to Yale University medical informatics professor Prakash Nadkarni to design web-based tools for incorporating existing pharmacogenetics knowledge into that database. And Richard Weinshilboum at the Mayo Foundation in Rochester, Minn., will use a $576,000 award to search for variations in genes encoding proteins already known to be important in the body's handling of an array of medicines, hormones, and chemical messengers."
"For the pharmacogenetics network, Nadkarni has proposed using the National Library of Medicine's Unified Medical Language System to design a "smarter" database search tool that scans text not just for matching phrases, but also for words with similar meanings. He explained, "Simple word indexing doesn't consult a thesaurus, but as it happens, there is a humongous thesaurus of all medical terms and quite a lot of bioinformatics terms in the Unified Medical Language System."
redux [03.30.00]
JAMIA Integration and Beyond: Linking Information from Disparate Sources and into Workflow
"The vision of integrating information—from a variety of sources, into the way people work, to improve decisions and process—is one of the cornerstones of biomedical informatics. Thoughts on how this vision might be realized have evolved as improvements in information and communication technologies, together with discoveries in biomedical informatics, and have changed the art of the possible. This review identified three distinct generations of "integration" projects. First-generation projects create a database and use it for multiple purposes. Second-generation projects integrate by bringing information from various sources together through enterprise information architecture. Third-generation projects inter-relate disparate but accessible information sources to provide the appearance of integration. The review suggests that the ideas developed in the earlier generations have not been supplanted by ideas from subsequent generations. Instead, the ideas represent a continuum of progress along the three dimensions of workflow, structure, and extraction. "JAMIA Integration and Beyond: Panel Discussion
"I think one of the toughest things we all have to deal with is updating our dictionaries. In the simplest cases, the name of an organism is changed and we just have to do the maintenance. It is tougher, when, as with Citrobacter, they do genetic studies and say, "Oh, it's really six different organisms, not one." We have the human genome project coming very quickly. Even that is just the tip of the iceberg. We're not only going to see all the genes; we're then going to see clinical tests based on gene expression. Essentially, you'll be able to look at something on the order of 180,000 gene products and whether they're up or down regulated. How are we going to integrate such an incredible amount of data at a time when we're going to also be changing how we think about these processes? Classification and simple mapping are not going to work, because the lumpers and splitters are going to be arguing furiously on a daily basis."
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John Doll, who heads the patent office's biotech division, said the guidelines essentially group the huge backlog of 30,000 patent applications into three classes.
The first are genes isolated in a laboratory, whose purpose is likely to be known. Doll calls this ``wet biology.'' Government and academic scientists have used wet biology to patent genes for 20 years. These are not controversial.
Another class of applications cover ``naked DNA sequences.'' These were the sort of early, machine-generated gene discoveries that provoked alarm in the first place. The new guidelines rule them out.
The battleground is the large number of applications that fall in the middle. These are machine-discovered genes, but they aren't ``naked sequences.'' ."
"As the controversy over ``naked sequences'' festered, biotech companies got smarter about using their machines. When they discovered a new gene, they employed software that analyzed its structure and deduced its purpose. Doll called these ``in silico'' applications -- a reference to the fact that the gene's purpose was deduced through a computer analysis."
"``It's not important that you understand the function of the gene (to get a patent), it's only important that it have a commercial utility,'' Incyte's Scott said. "
Signals Homestead 2000: The Genome
""The analogy that I would use is that of a minefield," said Bob Levy, senior VP of science and technology for American Home Products. "We are spending an incredible amount of time now, when we find exciting targets and begin to validate them, in trying to define who has rights to what. And we're finding, in almost every product that we look at, that someone has patented the protein, the gene, a fragment, a diagnostic test." Levy noted that untangling patent rights, and determining which patents are dominant, are increasingly time-consuming and expensive tasks. And patent-holders must be paid. "The royalties that will be involved soon in some of the products that we are bringing to market, they're already up into the ten, fourteen, fifteen percent [range]," said Levy. "And that may increase with time.""
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If his mathematical proof gains general acceptance, it will shut the door on controversial "gene-centered" views of evolution.
Bar-Yam, in the upcoming article, proves that the "selfish gene" approach is not valid in the general case. He demonstrates that the gene-centered view, expressed in mathematical form, is only an approximation of the dynamics actually at work."
"The key to Bar-Yam's analysis lies in recognizing three levels of structure in nature: the gene, the organism and the group (or network) of organisms."
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Clinical Micro Sensors Monday announced the results of a clinical trial showing its technology, called the eSensor biochip, could allow doctors to quickly and accurately diagnose or help tailor medications to patients according to their genetic make-up."
"The researchers said the technology, which consists of shooting electrons through the center of a DNA double helix, works as well as more laborious technology now used for analyzing genetic material. And eSensor can do it in one step, on the spot."
"...the eSensor technology will be instrumental in detecting SNPs. SNPs or singlenucleotide polymorphisms are tiny differences among individuals that can indicate that a patient is predisposed to a certain disease, or predict how an individual will respond to a specific drug."
redux [04.11.00]
The British Medical Journal Science, medicine, and the future: Pharmacogenetics
"Pharmacogenetic testing may provide the first example of a mechanism whereby DNA based testing can be applied to populations, but we are still a long way from having a pharmacogenetic DNA chip that general practitioners can use to identify all the drugs to which any particular patient is sensitive. However, there is increasing evidence that pharmacogenetics will be extremely important in the health service. One day it may be considered unethical not to carry out such tests routinely to avoid exposing individuals to doses of drugs that could be harmful to them. The ability to identify sensitive individuals, either before drug treatment or after an adverse drug response would also be of economic importance as it would avoid the empiricism associated with matching the most appropriate drug at its optimal dose for each patient. It might also substantially reduce the need for hospitalisation, and its associated costs, because of adverse drug reactions.
Our increasing knowledge of the mechanisms of drug action, the identification of new drug targets and the understanding of genetic factors that determine our response to drugs may allow us to design drugs that are specifically targeted towards particular populations or that avoid genetic variability in therapeutic response. The extent of genetic polymorphism in the human population indicates that pharmacogenetic variability will probably be an issue for most new drugs.
The development of pharmacogenetics provides at least one mechanism for taking prescription away from its current empiricism and progressing towards more "individualised" drug treatment. In view of the momentum that pharmacogenetics is developing, it is essential that the subject is taught as part of the medical student curriculum."redux [04.16.00]
The New York Times Back to the Future: Medicine and Our Genes
[requires 'free' registration]
"SINCE the invention of the stethoscope by the French physician Réné Laennec in 1816, medicine has been troubled by a predicament: the technological advances that have enhanced our ability to diagnose and cure have also distanced us from our patients.
This problem was highlighted recently, when PE Celera Corporation, of Rockville, Md., announced that it had identified the three billion chemical letters of which human genes are made -- a feat accomplished by row upon row of tireless, automated gene-sequencing machines, like something out of Aldous Huxley's "Brave New World."
But this time technology has finally advanced far enough that it will enable medicine and medical research to return to some of its best, and most old-fashioned, traditions. In fact, the emerging gene sciences will reunite the patient, doctor and researcher in ways not seen since the 19th and early 20th centuries."redux [04.16.00]
GeneLetter Genetics for all
"The topic of human genetics did not play a prominent role in the health care reform debates that began in the U.S. in the early 1990s. While participants recognized how progress in the field could revolutionize medicine and emphasize prediction and prevention in clinical practice, the reforms proposed for the multi-billion dollar health care industry did not utilize the "genetic card".
"While I am optimistic about technology providing us with new ways to attack important social problems, I do not think it is a cure-all. Making sure everyone can benefit from the new, genetically-informed medicine is a moral and political dilemma as much as a technological challenge. To be properly dealt with, it will require continued broad based, informed public debate and democratic action. "
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The groups compared the results of their programs against each other and against the results of an exhaustive experimental and computational effort to locate all the genes in this region (not available to the participants during the test).
When the results were in, many programs had detected the genes in the region with 95% accuracy compared to the experimental effort. Furthermore, the programs made predictions of genes that had not been found in that effort, which researchers are now investigating. However, the programs were less accurate in defining the exact boundaries of the genes within the code, and groups that attempted to find elements controlling gene activity (e.g., promoters) made a large number of false predictions."
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BOSC is designed to be open to all the open source efforts in bioinformatics, including Perl, Java, Python, C and C++ - even Fortran would be fun. We don't expect all attendees to be participating in a particular open source project (like, say, biojava), but we do expect that a lot of the people involved in the open source projects in bioinformatics will attend."
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redux [03.29.00]
LinuxWorld Farming, Linux-Style
"Gone are the days when any pioneer with a bit of hardware, hard code, and hard work could run a small Linux farm and compete with the best plantations. The smart folks at biotech firm Incyte Genomics of Palo Alto, Calif., have just invented agribusiness. You remember everything you ever tried to tell your boss or colleagues about Linux's stability, price performance, and reliability? Well, Incyte has put those ideas to the test and come up grinning like a bandit.
To map the human genome, Incyte runs the world's largest commercial Linux farm, with more than 2,000 Linux processors chomping away on tens of millions of jobs per day. In its datacenter, laid out like a temple in the middle of Incyte's corporate headquarters, space costs a king's ransom -- but the company has come up with clever ways to address that problem..."redux [03.18.00]
HMS Beagle Patenting Genes Is It Necessary and Is It Evil?
[requires 'free' registration]
"Last October, biologists' neck hair rose when J. Craig Venter announced his company, Celera, had filed 6,500 provisional patent applications for human genes. Henry Ford mass-produced automobiles - it seems evident we are now entering an era in which intellectual property is rolling off the assembly lines. Is this really the ultimate legacy of Watson and Crick's elegant double helix? And what does it portend for the future of biology?"
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"This release of OMIGA improves the software product, which should continue to serve as a valuable resource to laboratories that require rapid sequence analyses and definition of strategies for such procedures as cloning and PCR primer design, as well as analysis of peptide and protein sequence properties."
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"PopGene version 1 is a simulation program that explores the parameters that affect the behavior of alternative forms of a gene (alleles) in a population. The program window is composed of three smaller windows specifying the parameters used, the calculated allele frequencies through each generation, and the graphical output of the calculations."
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"Dr. Desrosiers and colleagues conclude, "Although we have not directly demonstrated that these deletions have contributed to [the patients'] rate of disease progression, they appear to be associated with the unusual clinical status of these individuals in an apparently nonrandom fashion."
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GeneLetter Genetics for all
"The topic of human genetics did not play a prominent role in the health care reform debates that began in the U.S. in the early 1990s. While participants recognized how progress in the field could revolutionize medicine and emphasize prediction and prevention in clinical practice, the reforms proposed for the multi-billion dollar health care industry did not utilize the "genetic card".
"While I am optimistic about technology providing us with new ways to attack important social problems, I do not think it is a cure-all. Making sure everyone can benefit from the new, genetically-informed medicine is a moral and political dilemma as much as a technological challenge. To be properly dealt with, it will require continued broad based, informed public debate and democratic action. "
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Tools: biowire
"Biowire.com's mission is to become the definitive resource of knowledge and tools that bioresearchers need for efficient and successful science. Targeted to 400,000 life science researchers worldwide, the company's web site provides free, easy-to-use analytical tools and scientist-authored reviews of high-end, experiment-specific research products, such as enzymes, antibodies and reagent kits. Biowire.com has rapidly grown through a program of scientist-to-scientist referral to become one of the largest and most active Internet sites in the life sciences market. The web site now has over 17,000 registered users at more than 2,000 academic, commercial, and industrial organizations in 45 countries."
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Wired Designer Drugs First HGP App
"New research reinforces that testing individuals to predict how they will respond to drugs will change the face of medicine in less than five years. A pair of British researchers claim that pharmacogenomics, the field of study that promises to measure, interpret, and understand variations in peoples' genes, will be one of the first practical applications to benefit from the Human Genome Project."
"In England, one in 15 hospital admissions is due to an adverse drug reaction, and in the United States, a study found that about 106,000 patients die and 2.2 million are injured every year by bad reactions to prescription drugs, according to the report."
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Yahoo! News Gene Expert Says Industry Tries to 'Patent Rainbow'
"Scientists mapping the genetic blueprint of the human body believe that while patents on genes are necessary, they should not be used by industry hoping to profiteer by claiming ownership of basic science."
"Companies are trying to ``patent the rainbow'' by filing applications to patent gene sequences without a clear idea of their function or use, scientists said on Monday at a Human Genome Organization (HUGO) conference."
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The New York Times Analysis of Human Genome Is Said to Be Completed
[requires 'free' registration]
"Dr. J. Craig Venter told a Congressional committee today that his company, the Celera Corporation, had finished analyzing all necessary pieces of human DNA and would assemble the whole human genome within three to six weeks, far earlier than expected."
"Dr. Venter said that after the human genome was assembled, he would convene a conference of outside experts to annotate it, meaning to identify where the genes lie on the DNA and what they do. Annotation is achieved with computer programs that analyze the DNA sequence, pinpoint the components of genes, and guess their biological role from comparison with known genes of other species that are already in the databases.
Only 3 percent of the human genome codes for genes, and the methods for identifying them are far from perfect. Once the annotation experts have finished their task, sometime later this year, Celera will make its human genome sequence freely available to researchers, Dr. Venter said."
"Representative Sheila Jackson Lee, a Texas Democrat, asked in relation to decoding the human genome sequence: "Does this mean we can alter the race of people? Can we design who inhabits this earth?"
Wired Rivals to Celera: 'What-EVer'
"After Celera announced Thursday morning that it had finished the sequencing phase of one person's genetic code, its shares (CRA) skyrocketed, catching a host of other biotech stocks in its upstream.
But investors are being duped by the hype, say competitors."
""From a commercial point of view, it really is a non-event," said Roy Whitfield, CEO of Incyte Genomics, a private company that sells genes individually. "About 80 percent of what they say they have achieved is already public knowledge."
""It's science by press release. You can have hype and not substance and make your stock go up.""
The Register Alpha chip powers Celera genome burst
"Biotech firm Celera said yesterday that it has now finished sequencing 99 per cent of the human genetic pattern, and confirmed it will complete its corporate push during the course of this year.
Sources close to the firm's plans said it has used "mass quantities" of an as yet unreleased 667MHz Alpha processor, each of which includes 8Mb of cache*, incorporated in four way ES40 AlphaServers."
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redux [02.14.00]
Yahoo! Finance Gemini Launches New Genetics Initiative In Newfoundland & Labrador
"Gemini Holdings plc, the clinical genomics company, today announced the signing of an agreement with Lineage Biomedical Inc., of St. John's, Newfoundland, to establish a joint venture for the purpose of identifying genes for common diseases using the unique population resources of Newfoundland. The joint venture, Newfound Genomics, will establish a genetics based research facility in Newfoundland and Labrador with the aim to identify disease-causing genes."
"The Canadian province of Newfoundland and Labrador has a population of around 550,000 people, primarily descended from a small 'founder' population of English, Scottish and Irish immigrants that populated the islands between the 1600s and the 1840s. The unique population history of Newfoundland and Labrador and the increased prevalence of certain diseases, such as psoriasis, rheumatoid arthritis and diabetes, represent a powerful resource for geneticists to identify genes that predispose to these diseases."
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redux [03.18.00]
HMS Beagle Patenting Genes Is It Necessary and Is It Evil?
[requires 'free' registration]
"Last October, biologists' neck hair rose when J. Craig Venter announced his company, Celera, had filed 6,500 provisional patent applications for human genes. Henry Ford mass-produced automobiles - it seems evident we are now entering an era in which intellectual property is rolling off the assembly lines. Is this really the ultimate legacy of Watson and Crick's elegant double helix? And what does it portend for the future of biology?"
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redux [02.25.00]
Science U.K. Plans Major Medical DNA Database
[summary - can be viewed for free once registered]
"Following the examples of Iceland, Sweden, and Estonia, the United Kingdom is drawing up plans to create a national database linking the DNA of 500,000 of its citizens to their medical records and lifestyle details. Its main goal is to tease apart the genetic and environmental components of conditions such as cardiovascular disease and cancer and, eventually, to come up with new drugs to treat--or even prevent--these conditions. An expert panel is currently hammering out a strategy for setting up the database and is due to report its recommendations next month.”
redux [02.13.00]
The Daily Davos Beyond the Genome
"By the spring of this year, the first draft of the human genome -- the sequence of all the genetic instructions needed to make up a human being -- will be published on the Web. But that is only the end of the beginning. Scientists still have very little idea of what most of the 100,000 or so human genes actually do, and finding out will take them into a very different area of research.
The raw material of the genome program has been anonymous samples of DNA, manipulated by complex laboratory machines that turn out information like a production line turns out widgets. But the new era of post-genome research involves analysing real people and their confidential medical records. The records are needed to match the genes that people carry with the diseases they may develop. Only then will gigabytes of genetic data into new treatments for cancer or heart disease. And that is why socialised healthcare is a vital part of post-genome research.
Countries such as the U.S., which provide healthcare through private enterprise, are useless for this sort of genetic inquiry. Only those countries which have organized the delivery of healthcare to their population in a way that is independent of the marketplace have built up the universal medical records necessary to make sense of the patterns of disease."
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“Bioinformatics will be at the core of biology in the 21st century. In fields ranging from structural biology to genomics to biomedical imaging, ready access to data and analytical tools are fundamentally changing the way investigators in the life sciences conduct research and approach problems. Complex, computationally intensive biological problems are now being addressed and promise to significantly advance our understanding of biology and medicine. No biological discipline will be unaffected by these technological breakthroughs.”
BIOINFORMATICS IN THE 21st CENTURY
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