Get flash to fully experience Pearltrees
Read more: Click here to read a later version of this story It may look like an ordinary USB memory stick, but a little gadget that can sequence DNA while plugged into your laptop could have far-reaching effects on medicine and genetic research. The UK firm Oxford Nanopore built the device, called MinION, and claims it can sequence simple genomes – like those of some viruses and bacteria – in a matter of seconds. More complex genomes would take longer, but MinION could also be useful for obtaining quick results in sequencing DNA from cells in a biopsy to look for cancer, for example, or to determine the genetic identity of bone fragments at an archaeological dig.
Stuart Isett for The New York Times Methotrexate is used to treat childhood leukemia and rheumatoid arthritis. “This is dire,” said Valerie Jensen, associate director of the ’s drug shortages program. “Supplies are just not meeting demand.”
Ms. H. is a 35-year-old woman from Japan who has had a cough for 3 weeks. Her physician sends her for an x-ray and CT scan that reveal an advanced lesion, which a biopsy confirms to be non–small-cell lung cancer. She has never smoked.
A paper online at Bioinformatics describes our flagship algorithm for detecting somatic point mutations in whole-genome sequencing of tumor samples. This freely available software package , called SomaticSniper, performs a Bayesian comparison of the genotype likelihoods in tumor and normal samples at every [covered] position in the genome. The study includes a detailed investigation of common sources of false positive mutation calls (usually from sequencing- or alignment-related artifacts) and describes a filtering strategy to remove them from mutation callsets.
http://www.ncbi.nlm.nih.gov/pubmed/22189465 Linkage analysis in the next-generation sequencing era. Source Inherited Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Baltimore, Md., USA. Abstract Linkage analysis was developed to detect excess co-segregation of the putative alleles underlying a phenotype with the alleles at a marker locus in family data. Many different variations of this analysis and corresponding study design have been developed to detect this co-segregation.
This month I was honored to be the master of ceremonies at the Personalized Medicine World Conference in Silicon Valley, California. for the second time. About 850 scientists, venture capitalists and physicians attended and most all of them, have many more letters after their name for advanced degrees than I have! These smart folks have been building the technology and processes to enable all of us to receive preventive medicine and treatments that, when needed, are an exact match for our individual biology.
Three common chemotherapy drugs cause DNA mutations not only in mice that receive treatment, but also in their offspring, according to a study published today in the Proceedings of the National Academy of Sciences USA 1 . The results suggest that the genome in treated mice became destabilized yielding new mutations long after exposure to the drugs has ceased. A similar phenomenon has been observed in mice exposed to radiation. Genomic damage can be seen in the offspring of mice who have received chemotherapy drugs. The work emphasizes the importance of looking at the effects of chemotherapy not only on recipients, but also on their descendants.
-- -- Modern medical technology is revealing the secrets of the human genome at an accelerating rate, and also making it possible to give patients anywhere intensive monitoring once available only in the hospital. But translating medical technology into medical practice has fallen far behind, says , a cardiologist. Damani has co-founded a company called MD Revolution to close that gap. Damani said the company personalizes medicine to the individual, something that advances in genomics is supposed to provide, but hasn't materialized. Genomics refers to the complete set of DNA in an individual.
by Emily Gersema - Jan. 28, 2012 01:29 PM The Republic | azcentral.com A massive building near Phoenix Sky Harbor International Airport is now home to a supercomputer that one day is expected to store clinical-research reports, medical records and the decoded genetic makeup of millions of patients and their cancers. Having this vault of medical information is a dream for doctors, specialists and researchers who are trying to tailor medical care to the individual needs of their cancer patients. Despite huge advances in research and medicine, doctors have no one-stop shop for up-to-date clinical-trial results, other medical cases and genetic maps of their patients. With access to this massive library, cancer doctors potentially could specify with precision the dosages of medicines, chemotherapy and radiation therapy for their patients by comparing those cases to those of other patients with similar genetic makeups and similar cancers.
Government will also consider Human Genomics Strategy Group’s genomic technology recommendations The UK's National Health Service (NHS) will make molecular tests more widely available so clinicians can move away from the “blanket prescription” of cancer drugs. The tests use genomic technology to tell in advance whether patients are likely to respond to a particular drug, helping to provide targeted treatment for individual patients. But before the NHS can use them the molecular tests will need to win the backing of the National Institute for Health and Clinical Excellence's (NICE). Once that's done a new commissioning and funding structure will be set up for them, which the government wants the NHS Commissioning Board to oversee.
South Texas Accelerated Research Therapeutics’ Dr. Anthony Tolcher says the Alamo City has an opportunity to gain some important ground on the cancer front. South Texas Accelerated Research Therapeutics (START), a local health care group that operates one of the world’s largest Phase I medical oncology programs, is spearheading the development of a new war on cancer that could have a far-reaching impact. That effort, dubbed the San Antonio 1,000 Cancer Genome Project, will pull together competing Alamo City physicians, researchers and institutions in a collaborative attempt to amplify and expedite efforts to better attack the deadly disease. “This is an enormous undertaking,” says Dr. Anthony Tolcher , co-founder and president of START.
Kristal James, a medical technician in suburban Dallas, spent more than a year fighting rapidly spreading breast cancer that looked like it might take her life. As doctors raced to save her, they decided to sequence her tumor’s genome. The sequencing showed surprising abnormalities in her diseased tissue’s DNA, confirming that a new drug they were trying was targeting genetic aberrations in her tumor. James, 33, has since been able to return to attending her son’s sporting events and school meetings. Enlarge image
Medicine increasingly is being refocused to deliver tailor-made results for patients in much the same way that clothes, diets and even golf clubs can be customized to meet the needs of one person. Personalized medicine, which experts say represents the future of health care, begins by mapping a patient's genome, or hereditary information. With that information, doctors can formulate drugs or doses of drugs made specifically for the patient, ensuring both the drug and dosage are safe for that patient.