In a side-by-side comparison, a noninvasive, multitarget stool DNA test proved to be more sensitive than a fecal immunochemical test (FIT). This result, published March 19 in the New England Journal of Medicine, suggests that the DNA test, which includes quantitative molecular assays for genetic abnormalities related to cancer, could significantly improve the effectiveness of colon cancer screening.
The FIT test detects hidden blood in the stool, a potential signal for cancer. In contrast, the DNA test includes quantitative molecular assays for KRAS mutations, aberrant NDRG4 and BMP3 methylation, and β-actin, plus a hemoglobin immunoassay.
The effectiveness of the DNA test was established in a study that evaluated nearly 10,000 asymptomatic patients who were deemed to be at average risk of developing colorectal cancer. It turned out that 65 (0.7%) of these patients had colorectal cancer, and 757 (7.6%) had advanced precancerous lesions. When these patients were screened, the study determined that the sensitivity for detecting colorectal cancer was 92.3% with DNA testing and 73.8% with FIT.
Posted March 18, 2014on:
The final cost of the Human Genome Project has been estimated at approximately $2.7 billion. At the time, researchers predicted costs would need to fall significantly to enable routine genome sequencing and usher in a new era of personalized and predictive medicine. In late 2001, at a scientific retreat convened by the National Human Genome Research Institute, the threshold cost of $1,000 per genome was conceived. Consequently, the “$1,000 genome” has been chased by DNA sequencing platform developers ever since.
With the recent launch of the HiSeq X Ten system, Illumina appears to have breached the $1,000 barrier to sequence a human genome in a single day. Illumina’s “$1,000 genome” claim is inclusive of instrument depreciation, consumables, DNA extraction, library preparation, and estimated labor. Although the exact cost is widely debated, this indicates a “real-world” figure rather than an abstraction of direct sequencing costs. In this context, it would appear that the personalized medicine era envisioned in 2001 has officially arrived.
Perhaps you’ve punched out a paper doll or folded an origami swan? TED Fellow Manu Prakash and his team have created a microscope made of paper that’s just as easy to fold and use. A sparkling demo that shows how this invention could revolutionize healthcare in developing countries … and turn almost anything into a fun, hands-on science experiment.
In biology, scientists typically conduct experiments first, and then develop mathematical or computer models afterward to show how the collected data fit with theory. In his work, Rob Phillips flips that practice on its head. The Caltech biophysicist tackles questions in cellular biology as a physicist would—by first formulating a model that can make predictions and then testing those predictions. Using this strategy, Phillips and his group have recently developed a mathematical model that accounts for the way genes compete with each other for the proteins that regulate their expression.
A paper describing the work appears in the current issue of the journal Cell. The lead authors on the paper are Robert Brewster and Franz Weinert, postdoctoral scholars in Phillips’s lab.
Posted February 28, 2014on:
UT Southwestern Medical Center researchers created new nerve cells in the brains and spinal cords of living mammals without the need for stem cell transplants to replenish lost cells.
Although the research indicates it may someday be possible to regenerate neurons from the body’s own cells to repair traumatic brain injury or spinal cord damage or to treat conditions such as Alzheimer’s disease, the researchers stressed that it is too soon to know whether the neurons created in these initial studies resulted in any functional improvements, a goal for future research.
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Operating on a child’s heart is a challenging procedure. Not only is the organ (presumably) defective, but it’s also small, complex, and delicate. So when Louisville, KY heart surgeon Erle Austin was preparing to operate on 14-month-old Roland Lian Cung Bawi’s heart, he first showed the scans of the muscle to two other surgeons, both of whom gave him “conflicting advice on how to proceed,” according to the Courier-Journal.
Then, Austin turned to the University of Louisville’s engineering school, which hooked him up with a MakerBot Replicator 2X. (From the video, it seems that the engineers had better luck with their 3D MakerBot printers than Ars ever did.) Using a computer model generated by the boy’s radiologist, the engineers fed the MakerBot with a new kind of flexible polymer “that’s similar in consistency to heart muscle,” Timothy Gornet, manager of the rapid prototyping center at U of L, told the Courier-Journal. They printed out three cross-sections of the heart, blown up to-scale, so that the surgeons could see the interior.
his 3D medical animation shows the function of white blood cells in normal immunity. It also portrays how the human immunodeficiency virus (HIV) affects the immune system and causes acquired immunodeficiency syndrome (AIDS). Common types of antiretroviral medications used to treat HIV and AIDS are also shown.