Bio Saga Blog - A Chronicle of Life Sciences & Informatics

This is really getting interesting, BioSaga is making history as we keep blogging! The  GATTACA SAGA ! is coming to an reality! The Race has just begun! today for  Olympian Genes; tomorrow may be for a pianist with pair of hands with 6 fingers each!  There is now no limt to the human imagination there could be a new profession  as GENE ARCHITECT or a GENOME SCULPTOR!  Beginning in 2015, Uzbekistan says it will incorporate genetic testing into its search for Olympic athletes, the Atlantic reports. Rustam Muhamedov from Uzbekistan's Institute of Bioorganic Chemistry's genetics laboratory notes that he and his colleagues have been studying the genes of Uzbek athletes and are working on developing a set of 50 genes to determine what sport a child is best suited for. "Developed countries throughout the world like the United States, China, and European countries are researching the human genome and have discovered genes that define a...

O ne more story in our very own GATTACA SAGA ! Patient advocacy groups Global Genes and Swan USA announced on Tuesday a program to provide whole-exome sequencing to patients with rare diseases who cannot afford such services. Beginning March 1, Global Genes and Swan USA will provide funding for the whole-exome sequencing of about 30 undiagnosed patients in order to identify the genetic bases of their ailments. Parabase Genomics and the UCLA Clinical Genomics Center were selected as the first clinical genomic sequencing providers for the pilot project. Global Genes is a rare and genetic disease patient advocacy group, and Swan USA provides support to families of children living with diseases and syndromes that have yet to be named. According to them, a genomic test costs between $3,500 and $5,000. The financing for the program was raised through a donor-directed fund launched in September, and additional funding is underway in order to expand the program to include more undia...

GATTACA has always been one of my favorites; every now and then I have used it as a reference in many of my posts, this one being the recent! Genome From Birth - Dawn of the GATTACA era! This is what Senator Rand Paul (R-Ky.) says in his latest public address; Speaking at a Liberty University event in Virginia, Senator Rand Paul (R-Ky.) warned that genetic testing could lead to eugenics à la the 1997 movie Gattaca , reports the Associated Press . "In your lifetime, much of your potential — or lack thereof — can be known simply by swabbing the inside of your cheek," Paul said. "Are we prepared to select out the imperfect among us?" He was campaigning in Virginia for gubernatorial candidate Ken Cuccinelli. Other aspects of Paul's speech referring to the dystopian movie, though, resembled the Wikipedia entry on the movie, Rachel Maddow pointed out on her show on Monday. USA Today notes that Paul has not responded to those accusations. Paul added tha...

Dawn of the GATTACA era! this was one of my old post. AND now this is what we hear from Robert Green The idea of sequencing someone's genome at birth has been "has been around for a long time in a pie-in-the-sky way," Robert Green from Brigham and Women’s Hospital tells Carl Zimmer at Slate . But it is becoming more of a reality, Zimmer adds. Green's BabySeq project recently received funding from the US National Institutes of Health to study how sequencing the genomes of some 240 healthy and ill infants affects their lives. They will be compared to a similar cohort of infants whose genomes will not be sequenced. As the study is small, Zimmer notes that rare, deleterious mutations may not crop up. The project will, though, make the discussion of ethics in genomic medicine more concrete, he says. “We’ll be grappling with them in real life, with real babies and real families and real clinicians and real laboratory results,” Green adds.

The nonprofit ECRI Institute has released a BRCA testing information guide for patients interested in learning more about the genetic risk of hereditary breast and ovarian cancer. The guide comes in response to the growing concern and questions among women about the information their genes contain about the risk for cancer, after actress Angelina Jolie wrote an op-ed piece discussing her decision to get a double mastectomy as a result of carrying a BRCA1 mutation associated with heightened risk of hereditary breast and ovarian cancer. There are reports that Jolie's highly publicized and controversial decision has caused a spike among women asking their physicians for BRCA testing. "People can get caught up in the headlines, which can lead to quick, uninformed decisions," says Vivian Coates, VP of information services and health technology assessment at ECRI Institute, in a statement. "Many women may find that after talking to their physicians about their ris...

BGI-Shenzhen today said that it has extended its offer to acquire Complete Genomics for around $118 million until midnight New York City time on Dec. 14. BGI's tender offer to acquire all of the shares of Complete Genomics was previously scheduled to expire today. As of the close of business last night approximately 15.4 million shares of Complete Genomics' common stock, or 44 percent of its outstanding shares, were tendered and not withdrawn. The extension of the offer last night coincided with a letter Illumina sent to Complete Genomics' board of directors urging them to reconsider Illumina's offer to acquire the firm for around $123 million. Earlier this week Illumina confirmed that it had made an unsolicited offer of $3.30 per share to acquire Complete Genomics. That offer is 5 percent higher than the price agreed between BGI and Complete Genomics. Complete Genomics turned down Illumina's offer saying that it would likely be turned down by regulator...

This is getting interesting every day! I love this Idea! sell a company but before selling it split or spin off as another company with a future technology (Illumina). After a few years again sell or get acquired! Citing vast future potential, ISS has sided with Illumina in the gene-sequencing company’s fight to hold off a hostile bid from Roche Holding. The proxy advisor says shareholders should vote the Illumina board back into service, and reject Roche’s slate because the offer probably undervalues the future of Illumina. Roche  last week raised its offer for Illumina to $51 a share from $44.50 , and called it fair and full. But Illumina shares immediately went above $51, and some in the market have pointed to $60 as the number to get the deal done. Illumina rejected the offer,  citing a report that compared the company to Apple and Illumina’s products to iPads.  The company has argued that Roche’s bid came just after Illumina’s own shares had cratered on a ba...

Inching toward the  Dawn of the GATTACA era ! , making up history as we went along.  A group of researchers will use a $2.5 million federal grant to study the ethical and legal implications of providing genetic research results to the relatives of people who donated samples to biobanks, Mayo Clinic said today. The grant from the National Cancer Institute and the National Human Genome Research Institute will fund researchers at Mayo, the University of California, San Francisco, and the University of Minnesota who will study what families prefer, will analyze the legal and ethical issues, and propose recommendations for best practices policies. "Substantial debate surrounds the question of whether researchers have an ethical obligation to return individual research results to genetic relatives of patients, especially when the patient has died, and incidental findings have potential health or reproductive importance for kin," Gloria Petersen, the Purvis and Roberta ...

A thorough discussion about personal genomics — what it means for the average consumer, the health care system, and the research community often raises more questions than it answers. While the public discourse on genetic privacy can be traced back to the days of the Human Genome Project, only recently has a new era been ushered in thanks to the steady decrease in the cost of DNA sequencing with promises of a tailor-made approach to medical treatment and new discoveries from rich genetic data sets. Depending on whom you ask, personal genetic information should either be protected at all costs as personal property or is merely information fit to published online for the whole world to see and contains nothing more revealing about health than, say, the knowledge that someone smokes. That there is such concern over whether genetic information is more vulnerable to attack or misuse than traditional personal health care records may be an unintended consequence of the hype that touted perso...

Avesthagen launches commercial Whole Genome Scanning Bringing Personalized Genomics to your doorstep. Avesthagen will use Affymetrix technology to decipher the association between single nucleotide polymorphisms (SNPs)/ mutation and predisposition to the disease. The DNA chip used by Avesthagen for whole genome scanning features more than 1.8 million markers of genetic variation that include SNPs as well as probes for copy number variation (CNV). A whole genome scan of an individual would provide information to understand his/her own genetic make-up that would lead to an increased awareness about the predisposition to a disease(s). The diseases, which are offered by Avesthagen, include major types of cancer, cardiovascular diseases, diabetes, schizophrenia, Alzheimer’s, asthma, anemia, arthritis and others. The technology platform at Avesthagen is able to interrogate the genetic markers (SNPs and CNVs) across an individual’s genome...

DNA sequencing’s first attempt at a personal-computer-like console is about to get a whole lot faster. The Ion Torrent Personal Genome Machine (PGM), launched with much fanfare (and  a Forbes cover ) in December, will be 100 times more powerful than it was at launch by the third quarter, according to Life Technologies, the $3 billion life sciences company that makes it. Life Technologies' Personal Genome Machine That means that the PGM will be able to sequence 1 billion letters of DNA code in two hours, making it much more competitive with a rival machine, the MiSeq, developed by Illumina, which now dominates the sequencing business. Perhaps more importantly, this leap would fulfill the promise made by Ion Torrent founder Jonathan Rothberg, who has promised that because his device relies on the same kind of semiconductor factories used to make Xboxes and iPods its performance will be able to improve 10-fold every six months. As he told me last year: “There isn’t a technology that w...

This one is not so recent article, nevertheless very interesting and path breaking, Scientists have successfully used "next generation sequencing" to identify mutations that may cause a rare and mysterious genetic disorder. The research, published by Cell Press on July 29th in the  American Journal of Human Genetics,  demonstrates that sequencing an affected individual's entire "exome"; that is, all of the genes that carry instructions for producing proteins, can reveal critical genes that when mutant, cause inherited disorders. Perrault syndrome is a recessive disorder that is associated with hearing loss in both boys and girls, and failure of ovarian function in girls. Some individuals with Perrault syndrome also have neurological symptoms. Prior to the current study, no genes for Perrault syndrome had been identified. A research group led by Mary-Claire King, PhD, from the University of Washington in Seattle studied the genetics of Perrault syndrome in a s...

Direct-to-consumer genetics testing firm 23andMe has moved to a subscription-based pricing plan that now includes a one year contract and an additional charge of $5 per month. Along with the change in pricing, the company has done away with its separate Ancestry Edition and Health Edition products, which are now part of one service, called Complete Edition, that the firm offers. The base price for the testing service remains at $499 . The Ancestry and Health Edition products were launched a year ago by 23andMe. The changes took effect on Nov. 22. After the initial year expires, the contract will go to a month-to-month model, and customers will be able to cancel their contract at any time, a spokeswoman for Mountain View, Calif.-based 23andMe said. In an e-mail, she said the new monthly charge is based on the company's need to update its test and customers' test results as new genetic discoveries are made. The company's scientific team continually evaluates the latest scien...

Here is the climax of the stories  Life Technologies to Acquire Ion Torrent for up to $725M  and  The Argument Continues - Blue Ray or HD, Intel or AMD and now Illumina or Life Tech?   Life Technologies has completed its acquisition of Ion Torrent for $375 million in cash and stock.  The total value of the deal could rise by another $350 million if certain technical and time-based milestones are met through 2012. The acquisition adds Ion Torrent's semiconductor chip-based sequencing platform, which measures the release of hydrogen ions as nucleotides get incorporated by DNA polymerase. Unlike other existing second-generation sequencers, it does not require lasers, cameras, or labels.  The first system based on the technology is the Personal Genome Machine sequencer, which will be launched in the fourth quarter of this year. Life Technologies said that the transaction is expected to be $.02 dilutive to its earnings per share in 2010, neutral in 2011, and ac...

Life Technologies announced after the close of the market Tuesday that it will acquire sequencing technologies startup Ion Torrent Systems for $375 million in cash and stock. The total value of the deal could rise by another $350 million if certain technical and time-based milestones are met through 2012. Ion Torrent has developed the Personal Genome Machine, a benchtop instrument that is currently being used by early-access customers and will be launched later this year at an entry cost of less than $100,000. The system will be "optimal for mid-scale sequencing projects, such as targeted and microbial sequencing. The transaction is expected to be dilutive by $.02 for Life Tech's earnings per share in 2010, and neutral to earnings in 2011. It is expected to be accretive in 2012 and beyond. Life Tech said that its EPS guidance for FY 2010 remains unchanged at $3.35 to $3.50. The firms expect to close the transaction in the fourth quarter of this year. in early Wednesday trade ...

CLC Bio today said that it, along with partners Ion Torrent Systems and Aarhus University Hospital, have received a $2 million grant from the Danish National Advanced Technology Foundation to support a molecular diagnostics collaboration. Under the three-year alliance, the partners aim to develop and integrated hardware and software solution for molecular diagnostics that will utilize high-throughput sequencing. According to CLC Bio, the partners aim to provide faster and more precise DNA-based diagnostics. Earlier this year, Ion Torrent unveiled its Personal Genome Machine, an electronic sequencer last week that reads DNA on a semiconductor chip by measuring the release of hydrogen ions as nucleotides get incorporated by DNA polymerase. The PGM sequencer is a desktop instrument that will cost only $50,000. The Ion PGM sequencer does a single run in about an hour or two. The collaboration will lead to an IT solution that can be used for molecular diagnostics research and for clinical ...

NIH Seeks Comments on Genetic Testing Registry The National Institutes of Health wants to hear what the public thinks about its planned Genetic Testing Registry (GTR), which will be a resource of information for healthcare providers and patients to learn about tests and labs, and for researchers and regulators to watch the genetic testing industry. NIH has opened a 30-day comment period on its GTR project, which will serve as a repository of information about genetic tests submitted by researchers, test developers, and manufacturers. The GTR will include information about how the tests are used, about their validity and utility, and about how they are accessed. The database, which is expected to be running in 2011, will be overseen by the NIH's Office of the Director, and it will be developed by the National Center for Biotechnology Information. "The registry will help consumers and health care providers determine the best options for genetic testing, which is becoming more...

Nick Loman at Pathogens: Genes and Genomes says that the key players emerging third-generation sequencing market are comparable to the Intel x86 family and its famed competitor, reduced instruction set computing — or RISC — chips in the early 1990s. "Despite the seeming obvious killer advantages … RISC chips resoundingly failed in the desktop PC market, never challenging Intel’s dominance," Loman recalls. He writes that labs considering which third-gen sequencing instruments to invest in is "very similar to the common nerd dilemma: buy a new laptop now, or wait for the next model?" Loman wonders whether the theory behind Moore's law will hold true for the transition from second- to third-generation sequencing technologies. "I propose that Illumina are Intel, and the Genetic Analyzer family — GA1, GA II, GAIIx, HiSeq 2000 — are x86. Life Tech is AMD, producing similar technology with much reduced market share," Loman writes, adding that "the thir...

BioTorrents, a website that allows open access sharing of scientific data and uses the popular BitTorrent peer-to-peer file sharing technology. BioTorrents allows files to be transferred rapidly due to the sharing of bandwidth across multiple institutions and provides more reliable file transfers due to the built-in error checking of the file sharing technology. BioTorrents contains multiple features, including keyword searching, category browsing, RSS feeds, torrent comments, and a discussion forum. AVAILABILITY: BioTorrents is available at http://www.biotorre nts.net/ REFERENCE: A complete description of BioTorrents is described in the manuscript at http://www.plosone. org/article/ info:doi/ 10.1371/journal. pone.0010071

Roche Diagnostics said today that it has struck a deal with Salt Lake City-based BioMicro Systems to buy all of the products associated with the Roche NimbleGen microarray workflow. These assets include instruments that are key to the Roche NimbleGen microarray workflow, such as the 4-and-12-bay NimbleGen Hybridization Systems. Roche said that it will transfer the manufacturing capabilities associated with these products to its own in-house facility. "Acquiring these assets will allow Roche complete control over the production, support, and service of these products to ensure continued timely distribution, full support, and the high level of service our customers have grown to expect from Roche," Roche NimbleGen VP of Marketing Andreas Görtz said in a statement. NimbleGen originally partnered with BioMicro for custom hybridization for its chips in 2007, before it was acquired by Roche later that year. Financial terms of the agreement were not released.