The field of medical genetics is swiftly evolving. It's a period of rapid scientific discovery, new technologies and subsequent translation into medical practice, public policy and public health. But what role should the Medical Genetics specialist have since genetics impacts all patients and specialties in some way? In an effort to clearly define the changing role of the specialty of Medical Genetics and the distinction between Medical Geneticists and other genetics healthcare professionals, the American College of Medical Genetics and Genomics (ACMG) has has just released ...

Various sight recovery therapies are being developed by companies around the world, offering new hope for people who are blind. But little is known about what the world will look like to patients who undergo those procedures. A new University of Washington study seeks to answer that question and offers visual simulations of what someone with restored vision might see. The study concludes that while important advancements have been made in the field, the vision provided by sight recovery technologies may be very different from what scientists and patients had previously ...

Recent research has shown that the more time employees spend in their chairs, the more likely they are to develop serious health problems such as diabetes, heart disease, and obesity. The July special issue of Ergonomics in Design examines the health and safety effects of the sedentary workplace, the pros and cons of alternatives to sitting at work (for example, sit-stand and treadmill workstations, ball chairs), and proposed workplace design solutions. The full text of the issue, guest edited by Jack Dennerlein, is now available online and may be found at http://erg.sagepub.com/content/current. "With ...

Scientists from the University of Leeds have uncovered further evidence that the protective buffers at the ends of chromosomes - known as telomeres - are fundamental to the understanding of the deadliest form of skin cancer, melanoma. A team of international researchers, co-led by Dr Mark Iles from the University's School of Medicine and St James's University Hospital in Leeds, has uncovered five new common genetic risk factors for melanoma. They have also confirmed two others previously suspected to be risk factors. Dr Iles said: "This research establishes further ...

Researchers led by the University of Cambridge have found the earliest example of reproduction in a complex organism. Their new study has found that some organisms known as rangeomorphs, which lived 565 million years ago, reproduced by taking a joint approach: they first sent out an 'advance party' to settle in a new area, followed by rapid colonisation of the new neighbourhood. The results, reported today in the journal Nature, could aid in revealing the origins of our modern marine environment. Using statistical techniques to assess the distribution of populations ...

High-dose vitamin D supplementation in postmenopausal women was not associated with beneficial effects on bone mineral density, muscle function, muscle mass or falls, according to the results of a randomized clinical trial published online by JAMA Internal Medicine. Low levels of vitamin D contribute to osteoporosis because of decreased total fractional calcium absorption (TFCA) and nearly half of postmenopausal women sustain an osteoporotic fracture. However, experts disagree on the optimal vitamin D level for skeletal health. Some experts contend that optimal serum ...

A recently discovered family of small RNA molecules, some of which have been implicated in cancer progression, has just gotten much larger thanks to a new RNA sequencing technique developed by researchers at UC Santa Cruz. The technique, described in a paper published August 3 in Nature Methods, provides sensitive detection of small RNAs that are chemically modified (methylated) after being transcribed from the genome. The researchers used the technique to reveal an abundance of modified fragments derived from transfer RNA molecules in both yeast cells and human cells. "Transfer ...

Skeletal muscle is one of the most abundant tissue types in the human body, but has proven difficult to produce in large quantities in the lab. Unlike other cell types, such as heart cells, neurons and cells found in the gut, previous attempts to efficiently and accurately derive muscle cells from pre-cursor cells or culture have not been fruitful. In a new study published this week in Nature Biotechnology, investigators from Brigham and Women's Hospital (BWH) report that by identifying and mimicking important developmental cues, they have been able to drive cells to grow ...

LA JOLLA--T cells are the guardians of our bodies: they constantly search for harmful invaders and diseased cells, ready to swarm and kill off any threats. A better understanding of these watchful sentries could allow scientists to boost the immune response against evasive dangers (e.g., cancer or infections), or to silence it when it mistakenly attacks the body itself (e.g., autoimmune disorders or allergies). Now, scientists at the Salk Institute have discovered that T cell triggering relies on a dynamic protein network at the cell surface, as reported in August 3, ...

New brain research has mapped a key trouble spot likely to contribute to intellectual disability in Down syndrome. In a paper published in Nature Neuroscience [3 Aug], scientists from the University of Bristol and UCL suggest the findings could be used to inform future therapies which normalise the function of disrupted brain networks in the condition. Down syndrome is the most common genetic cause of intellectual disability, and is triggered by an extra copy of chromosome 21. These findings shed new light on precisely which part of the brain's vast neural network contribute ...

Greenhouse-gas emissions from human activities do not only cause rapid warming of the seas, but also ocean acidification at an unprecedented rate. Artificial carbon dioxide removal (CDR) from the atmosphere has been proposed to reduce both risks to marine life. A new study based on computer calculations now shows that this strategy would not work if applied too late. CDR cannot compensate for soaring business-as-usual emissions throughout the century and beyond, even if the atmospheric carbon dioxide (CO2) concentration would be restored to pre-industrial levels at some ...

NEW YORK, NY (August 3, 2015) - Scientists at The New York Stem Cell Foundation (NYSCF) Research Institute successfully designed a revolutionary, high-throughput, robotic platform that automates and standardizes the process of transforming patient samples into stem cells. This unique platform, the NYSCF Global Stem Cell ArrayTM, for the first time gives researchers the scale to look at diverse populations to better understand the underlying causes of disease and create new individually tailored treatments, enabling precision medicine in patient care. A paper published ...

When it comes to making decisions involving others, the impression we have of their character weighs more heavily than do our assessments of how they can benefit us, a team of New York University researchers has found. "When we learn and make decisions about people, we don't simply look at the positive or negative outcomes they bring to us--such as whether they gave us a loan or helped us move," explains Leor Hackel, a doctoral candidate in NYU's Department of Psychology and the study's lead author. "Instead, we often look beyond concrete outcomes to form trait impressions, ...

Our brains are constantly barraged with sensory information, but have an amazing ability to filter out just what they need to understand what's going on around us. For instance, if you stand perfectly still in a room, and that room rotates around you, it's terrifying. But stand still in a room and turn your eyes, and the same visual input feels perfectly normal. That's thanks to a complex process in our brain that tell us when and how to pay attention to sensory input. Specifically, we ignore visual input caused by our own eye movements. Now, researchers at The Rockefeller ...

Skygazers at northern latitudes are familiar with the W-shaped star pattern of Cassiopeia the Queen. This circumpolar constellation is visible year-round near the North Star. Tucked next to one leg of the W lies a modest 5th-magnitude star named HD 219134 that has been hiding a secret. Astronomers have now teased out that secret: a planet in a 3-day orbit that transits, or crosses in front of its star. At a distance of just 21 light-years, it is by far the closest transiting planet to Earth, which makes it ideal for follow-up studies. Moreover, it is the nearest rocky ...

WASHINGTON, D.C. - Shifts in trade winds and ocean currents powered a resurgence of endangered Galápagos penguins over the past 30 years, according to a new study. These changes enlarged a cold pool of water the penguins rely on for food and breeding - an expansion that could continue as the climate changes over the coming decades, the study's authors said. The Galápagos Islands, a chain of islands 1,000 kilometers (600 miles) west of mainland Ecuador, are home to the only penguins in the Northern Hemisphere. The 48-centimeter (19-inch) tall black and white ...

PROVIDENCE, R.I. [Brown University] -- Even after centuries of earnest oaths and laws, the debate about whether money compromises medicine remains unresolved, observes Dr. Eli Adashi in a new paper in the AMA Journal of Ethics. The problem might not be truly intractable, he said, but recent reforms will likely make little progress or difference. "This is one of those things we have to appreciate as being with us for a long time," said Adashi, former dean of medicine and biological sciences at Brown University. "It will probably be with us forever. It's probably not entirely ...

Soldiers who served in the glaring desert sunlight of Iraq and Afghanistan returned home with an increased risk of skin cancer, due not only to the desert climate, but also a lack of sun protection, Vanderbilt dermatologist Jennifer Powers, M.D., reports in a study published recently in the Journal of Investigative Dermatology. "The past decade of United States combat missions, including operations in Iraq and Afghanistan, have occurred at a more equatorial latitude than the mean center of the United States population, increasing the potential for ultraviolet irradiance ...

PHILADELPHIA - Researchers at the Perelman School of Medicine at the University of Pennsylvania have devised an entirely new approach to vaccines - creating immunity without vaccination. The study, published in Scientific Reports, demonstrated that animals injected with synthetic DNA engineered to encode a specific neutralizing antibody against the dengue virus were capable of producing the exact antibodies necessary to protect against disease, without the need for standard antigen-based vaccination. Importantly, this approach, termed DMAb, was rapid, protecting animals ...

With Congress currently debating the repeal of mandatory country-of-origin labeling (COOL) for meat and poultry - federal law in the US since 2002 - new research from the Sam W. Walton College of Business at the University of Arkansas shines a spotlight on how COOL labeling affects consumers' purchase decisions. In "A COOL Effect: The Direct and Indirect Impact of Country-of-Origin Disclosures on Purchase Intentions for Retail Food Products," appearing in the September issue of the Journal of Retailing, Marketing Professors Elizabeth Howlett and Scot Burton, along with ...

Researches from the Laboratory of Nanooptics and Plasmonics at the MIPT Center of Nanoscale Optoelectronics have developed a new method for optical communication on a chip, which will give a possibility to decrease the size of optical and optoelectronic elements and increase the computer performance several tenfold. According to their article published in Optics Express, they have proposed the way to completely eliminate energy losses of surface plasmons in optical devices. "Surface plasmon polaritons have previously been proposed to be used as information carriers for ...

WASHINGTON, Aug. 3, 2015 -- Strawberries are sweet, juicy and delightful. Unfortunately, an expiring federal pesticide exemption could mean 2016 will be the end of strawberries in the U.S. How can we protect our strawberries from pests and comply with federal fumigant standards? In this Speaking of Chemistry video, Sophia Cai explains the problem and some possible solutions. Check it out here: https://youtu.be/noaec9-BmwU. Speaking of Chemistry is a production of Chemical & Engineering News, a weekly magazine of the American Chemical Society. The program features fascinating, ...

(WASHINGTON, August 3, 2015) - The first protein engineered to help control bleeding episodes in patients with severe von Willebrand disease (vW disease) has been shown to be safe and effective, according to results of a Phase III trial. Study data were published online today in Blood, the Journal of the American Society of Hematology When a blood vessel becomes damaged, a protein called von Willebrand factor (vWF) helps stop bleeding by guiding clot-forming platelets to the injury. vWF serves as the "glue" that helps platelets stick to a wound. Approximately 1 percent ...

Researchers at Northwestern University are using a novel dimensional method for distinguishing misbehavior that is expectable in early childhood versus that which is cause for clinical concern. Their study is published in the August 2015 issue of the Journal of the American Academy of Child and Adolescent Psychiatry. Using a survey developed by the researchers to enhance precision of clinical identification in early childhood the Multidimensional Assessment Profile of Disruptive Behavior (MAP-DB), scientists obtained mothers' reports of their preschoolers' irritability ...

The World Glacier Monitoring Service, domiciled at the University of Zurich, has compiled worldwide data on glacier changes for more than 120 years. Together with its National Correspondents in more than 30 countries, the international service just published a new comprehensive analysis of global glacier changes in the Journal of Glaciology. In this study, observations of the first decade of the 21st century (2001-2010) were compared to all available earlier data from in-situ, air-borne, and satellite-borne observations as well as to reconstructions from pictorial and written ...