SALT LAKE CITY, Utah and EMERYVILLE, Calif. – PRESS RELEASE EMBARGOED UNTIL 12:00 P.M. EASTERN, June 23, 2011 – Scientists from the University of Utah and Omicia, Inc., a privately held company developing tools to interpret personal genome sequences, today announced the publication in Genome Research of a new software tool called VAAST, the Variant Annotation, Analysis and Selection Tool, a probabilistic disease-causing mutation finder for individual human genomes. The dramatic decline in DNA sequencing costs is making personal genome sequencing a reality. Already, significant ...

Massachusetts General Hospital investigators appear to have found the mechanism behind a previously reported link between the rare genetic condition Gaucher disease and the common neurodegenerative disorder Parkinson's disease. In a report to appear in the July 8 issue of Cell and receiving early online release, they describe how disruption of the molecular pathway that causes Gaucher disease leads to the toxic neuronal deposits of the protein alpha-synuclein (α-syn) found in Parkinson's and related disorders. In addition, rising α-syn levels further inhibit ...

A third car lost control on the 59th Street Bridge exit ramp this past weekend and New York auto accident lawyer David Perecman wants the Department of Transportation to fix the dangerous problem. In the latest auto accident on the Queensboro Bridge off-ramp, the car hit a barrier, became airborne, and landed on the top of a parked livery cab. The car accident in New York left the driver with minor injuries. New York auto accident lawyer Perecman notes that the car accident happened at the exact same hairpin turn as two recent - and fatal - auto accidents. "By ...

Harnessing the new generation of rapid, highly accurate gene-sequencing techniques, a research team has identified the disease-causing mutation in a newly characterized rare genetic disease, by analyzing DNA from just a few individuals. The power and speed of the innovative bioinformatics tool marks a step toward personalized genomics—discovering causative mutations in individual patients. "Our research is proof-of-principle that a new software tool called VAAST can identify disease-causing mutations with greater accuracy, using DNA from far fewer individuals, more rapidly, ...

VIDEO: Caltech-led researchers measure body temperatures of dinosaurs for the first time. Interviews with the Caltech researchers, John Eiler and Rob Eagle. Click here for more information. PASADENA, Calif.—Were dinosaurs slow and lumbering, or quick and agile? It depends largely on whether they were cold or warm blooded. When dinosaurs were first discovered in the mid-19th century, paleontologists thought they were plodding beasts that had to rely on their environments ...

HOUSTON - (June 24, 2011) – Imagine two flat screen televisions tuned to the same channel and sitting side-by-side. From a distance, their pictures are virtually the same, however up close, you can see subtle variations in the pixels – one blurred here, another dropped out there. Suppose some of these 'bad pixels' are known to produce periodic black-out spells on the screen. Would a sharper image revealing all of the defects help identify which of the screens works perfectly, and which one needs repair? Seven years ago, Dr. Jeffrey Noebels (http://www.bcm.edu/neurology/noebels.cfm) ...

After successfully pushing through two measures to curb distracted driving in Georgia last year in an effort to reduce motor vehicle accidents, lawmakers are turning their attention this year to passing a law against drivers using cell phones while driving. HB 67 would prohibit Georgia motorists from talking on hand-held cell phones while operating a motor vehicle. Under the proposed law, drivers would be able to use cell phones so long as they did so with a hands-free device. If the law is passed, Georgia would become the ninth state in the US to adopt a hands-free ...

A discovery by a team of researchers led by a Syracuse University physicist sheds new light on how the vision process is initiated. For almost 50 years, scientists have believed that light signals could not be initiated unless special light-receptor molecules in the retinal cells first changed their shape in a process called isomerization. However, the SU research team, which includes researchers from Columbia University, has demonstrated that visual signals can be initiated in the absence of isomerization. "We have demonstrated that chromophores (light-absorbing substances ...

HOUSTON -- (June 23, 2011) – The ability to identify self and non-self enables cells in more sophisticated animals to ward off invading infections, but it is critical to even simpler organisms such as the social amoebae Dictyostelium discoideum. Dictyostelium exists as a single cell when times are good, but when starved, the cells aggregate and become multi-cellular fruiting bodies with a dead stalk and live spores that allow the cells to survive and pass on genes. When the social amoeba aggregates, it prefers to do so with "kin," the cells that are genetically most like ...

Patients who received several sessions of a "motivational interview" early after a stroke had normal mood, fewer instances of depression and greater survival rates at one year compared to patients who received standard stroke care, according to new research reported in Stroke: Journal of the American Heart Association. Motivational interviewing is generally a talk-based therapy for patients with health problems that require behavior change, but in this study it was used to support adjustment to life after stroke. Depression is a common problem after stroke that interferes ...

Madison, Wis. — Just like human teenagers, fruit flies that spend a day buzzing around the "fly mall" with their companions need more sleep. That's because the environment makes their brain circuits grow dense new synapses and they need sleep to dial back the energy needs of their stimulated brains, according to a new study by UW- Madison sleep researchers. Researchers saw this increase in the number of synapses -- the junctions between nerve cells where electrical or chemical signals pass to the next cell -- in three neuronal circuits they studied. The richer "wake ...

Many people when stressed turn to high calorie "comfort foods". Despite the contribution this behavior makes to the current obesity epidemic, little is known about the molecules and nervous system circuits that control it. Insight into this could provide new targets for the development of therapeutics to curb this potentially detrimental behavior. In this context, a team of researchers, led by Jeffrey Zigman, at The University of Texas Southwestern Medical Center, Dallas, working with a new mouse model of prolonged psychosocial stress that features aspects of major depression ...

High levels of "good" cholesterol (HDL cholesterol) are associated with a decreased risk of coronary artery disease (CAD) — a disease of the major arterial blood vessels that is one of the major causes of heart attack and stroke. This suggests that therapeutics that increase HDL levels could be clinically useful. However, such therapies have not yielded clear-cut decreases in disease, indicating that the beneficial effects of HDL are likely not related simply to its abundance. More evidence to support this notion has now been provided by a team of researchers, led by Ulf ...

Although homeowners continue to struggle with their mortgage payments and try to avoid foreclosure, many banks see nothing wrong with concurrently pursuing foreclosures against borrowers who are seeking loan modifications. This controversial practice, called dual tracking, seems less like a smart business tactic and more like a way to punish homeowners working to keep their homes. While both federal regulators and various state officials work to curb or ban the practice of dual tracking, consumers should be aware that lenders may sell their homes before modifying their ...

Some individuals with epilepsy fail to respond to treatment with conventional drugs but benefit from consuming a ketogenic diet — a high-fat, low-carbohydrate diet similar to the more commonly known Atkins diet. A team of researchers, led by Detlev Boison, at the Legacy Research Institute, Portland, has now identified in mice the molecular mechanism responsible for the antiepileptic effects of the ketogenic diet. The team found that a ketogenic diet reduces seizures in mice by decreasing expression of the protein Adk, which is responsible for clearing the natural antiepileptic ...

EDITOR'S PICK: What makes a happy meal? Many people when stressed turn to high calorie "comfort foods". Despite the contribution this behavior makes to the current obesity epidemic, little is known about the molecules and nervous system circuits that control it. Insight into this could provide new targets for the development of therapeutics to curb this potentially detrimental behavior. In this context, a team of researchers, led by Jeffrey Zigman, at The University of Texas Southwestern Medical Center, Dallas, working with a new mouse model of prolonged psychosocial ...

In its infancy, when the universe was a few millionths of a second old, the elemental constituents of matter moved freely in a hot, dense soup of quarks and gluons. As the universe expanded, this quark–gluon plasma quickly cooled, and protons and neutrons and other forms of normal matter "froze out": the quarks became bound together by the exchange of gluons, the carriers of the color force. "The theory that describes the color force is called quantum chromodynamics, or QCD," says Nu Xu of the U.S. Department of Energy's Lawrence Berkeley National Laboratory (Berkeley ...

None of us are strangers to stress of various kinds. It turns out the effects of all those stresses can change the fate of future generation, influencing our very DNA without any change to the underlying sequence of As, Gs, Ts and Cs. Now, researchers reporting in the June 24th issue of Cell, a Cell Press publication, have new evidence that helps to explain just how these epigenetic changes really happen. "There has been a big discussion about whether the stress effect can be transmitted to the next generation without DNA sequence change," said Shunsuke Ishii of RIKEN ...

A doctor's office visit can be stressful, no matter what the circumstances, but imagine if you're visiting your doctor after you've been injured in a car accident. If you've spoken with an attorney about your Florida motor vehicle accident, your attorney may have counseled you on how to protect your accident claim in the exam room. If you haven't spoken to an attorney, there are mistakes you want to avoid to prevent damaging any possible claim you have. Mistakes to Avoid at a Visit With Your Doctor Don't Lie About Your Pain or Ignore Pain: The most common, and ...

The ultimate source of some cancers is embryonic cells. Research published in the June 24th Cell, a Cell Press publication, traces the precursor of deadly esophageal cancers to leftover embryonic cells found in all adults. Some people with gastric reflux disease have a greater risk of developing esophageal cancer. These patients often have Barrett's esophagus, a condition in which intestinal-like cells appear in the esophagus. Esophageal cancers are difficult to treat and, together with gastric adenocarcinomas, kill more than a million people each year. "A lot of ...

Betelgeuse, a red supergiant in the constellation of Orion, is one of the brightest stars in the night sky. It is also one of the biggest, being almost the size of the orbit of Jupiter — about four and half times the diameter of the Earth's orbit. The VLT image shows the surrounding nebula, which is much bigger than the supergiant itself, stretching 60 billion kilometres away from the star's surface — about 400 times the distance of the Earth from the Sun. Red supergiants like Betelgeuse represent one of the last stages in the life of a massive star. In this short-lived ...

Researchers at RIKEN have uncovered a mechanism by which the effects of stress in the fly species Drosophila are inherited epigenetically over many generations through changes to the structure of chromatin, the material that makes up the cell nucleus. Published in the journal Cell, the results highlight the role of the transcription factor dATF-2 in chromatin assembly, marking a major advance in our understanding of non-Mendelian inheritance. Recent years have seen growing interest in the phenomenon of epigenetic inheritance: the idea that our genome, through epigenetic ...

An app created by the Canadian based creators of Blackberry, Research In Motion, has recently been pulled off the company's online store after a formal request from four U.S. Senators. Known as the "DUI app," it allows users to pinpoint the exact locations of local police checkpoints using GPS. The apps also locate traffic cameras and speed traps. Web applications like these, however, are gaining widespread attention by law enforcement and legislative officials across the country. Senators Harry Reid, D-Nevada; Charles Schumer, D-New York; Frank Lautenberg, ...

Prader-Willi syndrome is a rare genetic disorder which affects one child in 25,000. Children born with this syndrome have a range of complex neurological and developmental problems which continue into adult life. These can manifest as cognitive and behavioral difficulties, weight gain, problems in controlling their temper and attendant difficulties in socialization. New research published in BioMed Central's open access journal Orphanet Journal of Rare Diseases, demonstrates that the hormone oxytocin is able to positively affect patients by improving trust, mood, and reducing ...

Synthetic collagen has a wide range of applications in reconstructive and cosmetic surgery and in the food industry. For proper function in animals a certain number of prolines within the protein need to be hydroxylated. BioMed Central's open access journal BMC Biotechnology reports that for the first time the α1 chain of type 1 collagen has been produced in maize with similar levels of proline hydroxylation to human collagen. Most collagen used is derived from animals but there are risks associated with this collagen containing infectious agents or being rejected ...