Body

Computational software provides rapid identification of disease-causing gene variations

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.

Rare genetic disorder provides unique insight into Parkinson's disease

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.

Next-generation gene sequencing brings personal genomics closer, IDs mutation in new syndrome

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.

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.

Effects of stress can be inherited, and here's how

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.

Leftover embryonic cells connect gastric reflux and cancer

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.

Mechanism for stress-induced epigenetic inheritance uncovered in new study

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.

Who goes there? Novel complex senses viral infection

Double-stranded (ds) RNA viruses are a diverse group of viruses that include rotaviruses, a common cause of gastroenteritis. The ability of the immune system to detect and destroy viruses is critical for human health and survival. Now, a study published by Cell Press in the June 23rd issue of the journal Immunity identifies a novel sensor that is necessary to activate the immune response to viral infection. The research enhances our understanding of the complex and overlapping mechanisms our immune cells use to thwart infection.

Community health worker interventions improve rates of US mammography screening

Tampa, FL (June 23, 2011) – Education, referrals, support and other interventions by community health workers improve rates of screening mammography in the United States – especially in medical and urban settings and among women whose race and ethnicity is similar to that of the community health workers serving them.

Scientists uncover an unhealthy herds hypothesis

Biologists worldwide subscribe to the healthy herds hypothesis, the idea that predators can keep packs of prey healthy by removing the weak and the sick. This reduces the chance disease will wipe out the whole herd, but could it be that predators can also make prey populations more susceptible to other predators or even parasites? Biologists at the Georgia Institute of Technology have discovered at least one animal whose defenses against a predator make it a good target for one opportunistic parasite. The research appears online in the journal Functional Ecology.

Qld fruit fly scientists in race against time

Parts of Australia's fruit and vegetable industry are under threat, with Queensland University of Technology (QUT) scientists racing to find new ways to control a major horticultural pest before chemical treatments are restricted.

Associate Professor Anthony Clarke, from QUT's Faculty of Science and Technology in Brisbane, is leading Australia's largest team of university researchers examining non-chemical based ways to fight fruit flies, including promising "lure and kill" techniques using ginger essence.

'Language tests being misused' -- new study

A seminal article on language testing, co-authored by Dr Glenn Fulcher, a Reader in Education at the University of Leicester, argues that some agencies are using unsuitable language tests to achieve policy ends.

Dr Fulcher, and Professor Fred Davidson of the University of Illinois Department of Linguistics, argue that generic tests are being used for multiple purposes because some policy makers go for "cheap and simple solutions" to complex problems, such as immigration.

Chemist solves riddle of killer diseases

Anthrax, septicemia and meningitis are some of the planet's most deadly infections. In part because doctors lack basic insights to prevent and cure diseases caused by so called Gram-positive bacteria. Now, a chemist from the University of Copenhagen has revealed the mechanism behind these deadly infections.

Large numbers of birth defects seen near mountaintop mining operations

SPOKANE, Wash.—Birth defects are significantly more common in areas of mountaintop coal mining and are on the rise as the practice becomes more common, according to a study by researchers at Washington State University and West Virginia University.

The researchers, led by Melissa Ahern, health economist and associate professor in WSU's College of Pharmacy, found 235 birth defects per 10,000 births where mountaintop mining is most common in four central Appalachian states. That's nearly twice the rate of 144 defects per 10,000 in non-mining areas.

Breaking the chain: 'Molecular cap' blocks processes that lead to Alzheimer's, HIV

A new advance by UCLA biochemists has brought scientists one step closer to developing treatments that could delay the onset of Alzheimer's disease and prevent the sexual transmission of HIV.

The researchers report that they have designed molecular inhibitors that target specific proteins associated with Alzheimer's disease and HIV to prevent them from forming amyloid fibers, the elongated chains of interlocking proteins that play a key role in more than two dozen degenerative and often fatal diseases.