PROVIDENCE, R.I. [Brown University] — There is no specific drug to treat spinal muscular atrophy (SMA), a family of motor neuron diseases that in its most severe form is the leading genetic cause of infant death in the United States and affects one in 6,000 people overall. But a new multispecies study involving a drug that treats amyotrophic lateral sclerosis (ALS) has pinpointed a mechanism of SMA that drug developers might be able to exploit for a new therapy. The research, published in the Journal of Neuroscience, reports that the drug Riluzole advanced neural cell ...

Hardening of the arteries, or atherosclerosis, is the primary cause of heart disease. It is caused by calcium accumulation in the blood vessels, which leads to arteries becoming narrow and stiff, obstructing blood flow and leading to heart complications. Although many risk factors for atherosclerosis have been identified, the cause is not known and there is currently no way to reverse it once it sets in. In a new study published 9th April in the open access journal PLOS Biology, researchers have characterized the cells responsible for driving this calcium build-up in vessel ...

Irvine, Calif. – Inspired by a traditional Balkan bedbug remedy, researchers have documented how microscopic hairs on kidney bean leaves effectively stab and trap the biting insects, according to findings published online today in the Journal of the Royal Society Interface. Scientists at UC Irvine and the University of Kentucky are now developing materials that mimic the geometry of the leaves. Bedbugs have made a dramatic comeback in the U.S. in recent years, infesting everything from homes and hotels to schools, movie theaters and hospitals. Although not known to transmit ...

NEW YORK – African-Americans with a variant of the ABCA7 gene have almost double the risk of developing late-onset Alzheimer's disease compared with African-Americans who lack the variant. The largest genome-wide search for Alzheimer's genes in the African-American community, the study was undertaken by the Alzheimer's Disease Genetics Consortium and led by neurologists from Columbia University Medical Center. It will be published in the April 10 issue of the Journal of the American Medical Association. The study was primarily funded by the National Institutes of Health ...

In a meta-analysis of data from nearly 6,000 African Americans, Alzheimer disease was significantly associated with a gene that have been weakly associated with Alzheimer disease in individuals of European ancestry, although additional studies are needed to determine risk estimates specific for African Americans, according to a study in the April 10 issue of JAMA, a Genomics theme issue. "Late-onset Alzheimer disease (LOAD) is the most common cause of dementia, increasing in frequency from 1 percent at age 65 years to more than 30 percent for people older than 80 years," ...

Researchers have been able to reconstruct the genome sequence of an outbreak strain of Shiga-toxigenic Escherichia coli (STEC) using metagenomics (the direct sequencing of DNA extracted from microbiologically complex samples), according to a study in the April 10 issue of JAMA, a Genomics theme issue. The findings highlight the potential of this approach to identify and characterize bacterial pathogens directly from clinical specimens without laboratory culture. "The outbreak of Shiga-toxigenic Escherichia coli, which struck Germany in May-June 2011, illustrated the ...

In a molecular genetic evaluation involving 91 cases of intrauterine fetal death, mutations associated with susceptibility to long QT syndrome (LQTS; a heart disorder that increases the risk for an irregular heartbeat and other adverse events) were discovered in a small number of these cases, preliminary evidence that may provide insights into the mechanism of some intrauterine fetal deaths, according to a study in the April 10 issue of JAMA, a Genomics theme issue. "Intrauterine fetal death is a major public health problem. About 1 million fetal deaths occur in the ...

Presence of the genetic mutation BRAF V600E was significantly associated with increased cancer-related death among patients with papillary thyroid cancer (PTC); however, because overall mortality in PTC is low and the association was not independent of tumor characteristics, how to use this information to manage mortality risk in patients with PTC is unclear, according to a study in the April 10 issue of JAMA, a Genomics theme issue. "Papillary thyroid cancer is the most common endocrine malignancy and accounts for 85 percent to 90 percent of all thyroid cancers," according ...

In South Africa, people with HIV who start treatment with anti-AIDS drugs (antiretroviral therapy) have life expectancies around 80% of that of the general population provided that they start treatment before their CD4 count drops below 200 (cells per microliter), according to a study by South African researchers published in this week's PLOS Medicine. These findings are encouraging and show that with long-term treatment, HIV can be managed as a chronic illness in middle- and low-income settings, and also suggest that the estimates used by life insurance companies and ...

Shingles vaccine is associated with reduction in both postherpetic neuralgia and herpes zoster, but uptake in the US is low A vaccine to prevent shingles may reduce by half the occurrence of this painful skin and nerve infection in older people (aged over 65 years) and may also reduce the rate of a painful complication of shingles, post-herpetic neuralgia, but has a very low uptake (only 4%) in older adults in the United States, according to a study by UK and US researchers published in this week's PLOS Medicine. The researchers, led by Sinéad Langan from the London ...

New guidelines for writing abstracts will help authors summarise their research A new extension to the PRISMA guideline on reporting systemic reviews and meta-analyses (types of studies that analyse information from many studies) will help authors to give a more robust summary (abstract) of their study and is detailed by an international group of researchers in this week's PLOS Medicine. These guidelines for abstracts of systemic reviews and meta-analyses are important, as the abstract is the most frequently read part of most papers and these types of studies are ...

An irregularity within many neuroblastoma cells may indicate whether a neuroblastoma tumor, a difficult-to-treat, early childhood cancer, is vulnerable to a new class of anti-cancer drugs known as BET bromodomain inhibitors, Dana-Farber/Children's Hospital Cancer Center scientists will report at the annual meeting of the American Association for Cancer Research in Washington, April 6-10. The findings (abstract 4622) will be discussed in a minisymposium on Tuesday, April 9, 3:50 - 4:05 p.m., ET, in Room 147, in the Washington Convention Center. The work was published in ...

PHILADELPHIA - A variation in the gene ABCA7 causes a twofold increase in the risk of late onset Alzheimer disease among African Americans, according to a meta-analysis by a team of researchers including experts from the Perelman School of Medicine at the University of Pennsylvania. This is the largest analysis to date to determine genetic risk associated with late-onset Alzheimer disease (LOAD) specifically in African American individuals. The study appears in the April 10 issue of JAMA, a genomics theme issue. The Alzheimer Disease Genetics Consortium (ADGC) – led ...

A paper published today on bmj.com suggests a strong association between population-wide weight change and risk of death from type 2 diabetes and cardiovascular disease. Variation in the prevalence of type 2 diabetes across populations can be largely explained by obesity. However, it is unclear as to what extent weight loss would lower cardiovascular disease prevalence. Whole population trends in food consumption and transportation policies linked to physical activity could reduce the burden of type 2 diabetes and cardiovascular disease at the population level. Following ...

A research team from Birkbeck, University of London, Royal Holloway University and Uppsala University in Sweden, have helped explain how ozone causes severe respiratory problems and thousands of cases of premature death each year by attacking the fatty lining of our lungs. In a study published in Langmuir, the team used neutrons from the Institut Laue-Langevin in Grenoble and the UK's ISIS Neutron Source to observe how even a relatively low dose of ozone attacks lipid molecules that line the lung's surface. The presence of the lipid molecules is crucial for the exchange ...

WASHINGTON, D.C. — April 9, 2013 — The nanoparticle drug BIND-014 is effective against multiple solid tumors, according to results generated by the Translational Genomics Research Institute (TGen) and Scottsdale Healthcare, and presented today at the American Association for Cancer Research (AACR) Annual Meeting 2013. Data for the study was generated at the Virginia G. Piper Cancer Center Clinical Trials, a partnership of TGen and Scottsdale Healthcare. Dr. Daniel Von Hoff, TGen Physician-In-Chief and Chief Scientific Officer of Scottsdale Healthcare's Clinical Research ...

SCOTTSDALE, Ariz. — April 9, 2013 — The safety and preliminary efficacy of a new class of tumor fighting drugs were reported today by Scottsdale Healthcare's Virginia G. Piper Cancer Center Clinical Trials and the Translational Genomics Research Institute (TGen). Early results from the phase I, first in-human study of an RNA interface (RNAi) drug were announced during the American Association for Cancer Research (AACR) Annual Meeting 2013, April 6-10, in Washington, D.C. The drug, TKM-080301 (also known as TKM-PLK1) is being developed by Tekmira Pharmaceuticals Corporation. The ...

Scientists at The University of Manchester have found evidence of the genetic basis of the evolutionary arms-race between parasitoids and their aphid hosts. The researchers studied the reaction of aphids when a parasitic wasp with genetic variation laid eggs in them. They found that different genotypes of the wasp affected where the aphids went to die, including whether they left the plant host entirely. The team also found an example of the emergence of a shared phenotype that was partly wasp and partly aphid. Dr Mouhammad Shadi Khudr, a visiting scientist at the Faculty ...

Some of the largest female birds in the world were almost twice as big as their male mates. Research carried out by the Zoological Society of London (ZSL) shows that this amazing size difference in giant moa was not due to any specific environmental factors, but evolved simply as a result of scaling-up of smaller differences in male and female body size shown by their smaller-bodied ancestors. The paper is published today (10th April) in Proceedings of the Royal Society B. In an environment lacking large mammals, New Zealand's giant moa (Dinornis) evolved to be one ...

Geckos are known for their sticky adhesive toes that allow them to stick to, climb on, and run along surfaces in any orientation--even upside down! But until recently, it was not well understood how geckos kept their sticking ability even on wet surfaces, as are common in the tropical regions in which most geckos live. A 2012 study in which geckos slipped on wet glass perplexed scientists trying to unlock the key to gecko adhesion in climates with plentiful rain and moisture. A study supported by the National Science Foundation and published in the Proceedings of the ...

There is no single sexy chin. That's the conclusion of a new Dartmouth College global study of male and female preferences for facial characteristics of the opposite sex. The results, which contradict the notion that human beauty is universal, are published in the journal PLOS ONE. The researchers studied chin shapes among 180 male and female skeletons in nine areas in Australia, Africa, Asia, and Europe to test the universal facial attractiveness hypothesis. The hypothesis proposes that some facial features are universally preferred by the opposite sex because they ...

New Rochelle, NY, April 9, 2013—One of the main obstacles that stands in the way of using human hematopoietic stem cells (hHSCs) to treat a variety of diseases is the difficulty growing them in culture—they quickly die or differentiate into other cell types. A series of experiments that demonstrate the successful use of fat cells as part of a feeder layer to support prolonged growth of hHSCs in culture is reported in an article in BioResearch Open Access, a bimonthly peer-reviewed open access journal from Mary Ann Liebert, Inc., publishers. The article is available on the ...

Scientists from UCLA's Fielding School of Public Health led by Julia Heck, an assistant researcher in the school's epidemiology department and a member of UCLA's Jonsson Comprehensive Cancer Center, have found a possible link between exposure to traffic-related air pollution and several childhood cancers. The results of their study — the first to examine air pollution from traffic and a number of rarer childhood cancers — were presented on April 9 in an abstract at the annual meeting of the American Association for Cancer Research in Washington, D.C. For the study, ...

ANN ARBOR—In a development that could make the advanced form of secure communications known as quantum cryptography more practical, University of Michigan researchers have demonstrated a simpler, more efficient single-photon emitter that can be made using traditional semiconductor processing techniques. Single-photon emitters release one particle of light, or photon, at a time, as opposed to devices like lasers that release a stream of them. Single-photon emitters are essential for quantum cryptography, which keeps secrets safe by taking advantage of the so-called observer ...

A study that began as a class project among graduate students at the Virginia Institute of Marine Science is now a peer–reviewed research article in Ecology, the flagship journal of the Ecological Society of America. The article, "Physiological effects of diet mixing on consumer fitness: a meta-analysis," is co-authored by VIMS graduate students Jonathan Lefcheck, Matt Whalen, Theresa Davenport, and Josh Stone, along with VIMS Professor J. Emmett Duffy. Duffy teaches the Evolutionary Ecology course that inspired the students to pursue their research question: whether ...