Sooner than almost anyone expected, a new, genome-based technology for demystifying undiagnosed illnesses—particularly rare childhood diseases—is moving from research laboratories into general medical practice. Now, two leading scientists have sketched out what doctors need to know in order to use the new technology effectively. "This primer illustrates how rapidly the use of genome sequencing has moved into clinical practice," said NHGRI Director Eric D. Green, M.D., Ph.D. "Its authors lay out an approach for physicians to follow when using these exciting new technologies." ...

BOSTON, MA – Clinical genome and exome sequencing (CGES) was once deemed exotic, but is increasingly being used by clinical geneticists and other specialists to diagnose rare, clinically unrecognizable, or puzzling disorders that are suspected to be genetic in origin. Several thousand CGES tests across the country have already been ordered for patients and thousands more are expected in coming years. CGES is quickly moving from research laboratories into clinical medical practice, across all specialties. A review article titled, "Diagnostic Clinical Genome and Exome ...

Cambridge, Mass. Wed. June 18, 2014 – By scouring the DNA of thousands of patients, researchers at the Broad Institute, Massachusetts General Hospital, and their colleagues have discovered four rare gene mutations that not only lower the levels of triglycerides, a type of fat in the blood, but also significantly reduce a person's risk of coronary heart disease — dropping it by 40 percent. The mutations all cripple the same gene, called APOC3, suggesting a powerful strategy in developing new drugs against heart disease. The work, which appears in the June 18 issue of the ...

PHILADELPHIA – It's a long way from DNA to RNA to protein, and only about two percent of a person's genome is eventually converted into proteins. In contrast, a much higher percentage of the genome is transcribed into RNA. What these non-protein-coding RNAs do is still relatively unknown. However, given their vast numbers in the human genome, researchers believe that they likely play important roles in normal human development and response to disease. Large-scale sequencing has allowed investigators to identify thousands of non-coding RNAs. Small non-coding RNAs, including ...

Danish researchers from the University of Copenhagen and Rigshospitalet have shown that people with variation in a gene that inhibits a specific protein in the blood – the so-called apolipoprotein C3 – have a significantly lower level of normal blood lipids than people without this gene variation. Furthermore, the same individuals also have a 41 per cent lower risk of arteriosclerosis. The research is highly relevant as at least one pharmaceutical company has a drug in the pipeline which inhibits precisely apolipoprotein C3, says Anne Tybjærg-Hansen, Chief Physician ...

UT Arlington researchers have successfully used a portable brain-mapping device to show limited prefrontal cortex activity among student veterans with Post Traumatic Stress Disorder when they were asked to recall information from simple memorization tasks. The study by bioengineering professor Hanli Liu and Alexa Smith-Osborne, an associate professor of social work, and two other collaborators was published in the May 2014 edition of NeuroImage: Clinical. The team used functional near infrared spectroscopy to map brain activity responses during cognitive activities related ...

MINNEAPOLIS – A new study suggests that people with muscle diseases such as muscular dystrophies may benefit more from group doctor visits than individual appointments. The study is published in the June 18, 2014, online issue of Neurology®, the medical journal of the American Academy of Neurology. "In this age when the demand for neurologists is rising faster than the supply and health care costs continue to rise, it's important to look for finding solutions that are both effective and efficient," said study author Femke M. Seesing, MSc, of Radboud University Medical ...

Women 55 and younger are twice as likely to suffer a heart attack, die or require artery-opening procedures if they're moderately or severely depressed, according to new research in the Journal of the American Heart Association. "Women in this age group are also more likely to have depression, so this may be one of the 'hidden' risk factors that can help explain why women die at a disproportionately higher rate than men after a heart attack," said Amit Shah, M.D., M.S.C.R., study author and assistant professor of Epidemiology at Emory University in Atlanta, Ga. Investigators ...

The use of sentinel lymph node biopsy (SLNB) to stage early breast cancer increased in both black and white women from 2002 to 2007, but the rates remained lower in black than white patients, a disparity that contributed to disparities in the risk for lymphedema (arm swelling common after breast cancer treatment because of damage to the lymphatic system). SLNB was developed to replace axillary (arm pit) lymph node dissection (ALND) for staging early breast cancer to minimize complications. SLNB can often provide patients with a much more limited surgery. Racial ...

Parents of children with autism spectrum disorder (ASD) appear to curtail attempts to have more children after the first signs of the disorder manifest or a diagnosis is made. ASD is a complex neurodevelopmental disorder. Few studies have focused on reproductive stoppage by parents after a child is diagnosed with ASD or symptoms appear. Authors identified patients with ASD born from 1990 through 2003 in California. A total of 19,710 families in which the first birth occurred during the study period were identified. The families included 39,361 individuals (siblings ...

Parents who have a child with autism spectrum disorder (ASD) are about one third less likely to have more children than families without an affected child, according to a study led by a UC San Francisco researcher. The findings, which appear in the June 18 issue of JAMA Psychiatry, stem from the largest study of its kind on further child-bearing after a child has been diagnosed with the disorder. These are the first data to indicate that this is a reproductive decision. " While it has been postulated that parents who have a child with ASD may be reluctant to have more ...

PROVIDENCE, R.I. – A new study from Bradley Hospital has found that bipolar children have greater activation in the right amygdala – a brain region very important for emotional reaction – than bipolar adults when viewing emotional faces. The study, now published online in JAMA Psychiatry, suggests that bipolar children might benefit from treatments that target emotional face identification, such as computer based "brain games" or group and individual therapy. This study is the first ever meta-analysis to directly compare brain changes in bipolar children to bipolar adults, ...

WASHINGTON, June 18, 2014—Your smartphone's display glass could soon be more than just a pretty face, thanks to new technology developed by researchers from Montreal and the New York-based company Corning Incorporated. The team has created the first laser-written light-guiding systems that are efficient enough to be developed for commercial use. They describe their work in a paper published today in The Optical Society's (OSA) open-access journal, Optics Express. This revolutionary work could open up new real estate in the phone by embedding the glass with layer upon ...

How do animals use their distinctive patterning to recognize each other? For some birds, recognizing one's own eggs can be a matter of life or death. In a new study, researchers from Harvard University and the University of Cambridge show that many birds parasitized by the Common Cuckoo have evolved distinctive pattern signatures on their eggs in order to distinguish them from those laid by a cuckoo cheat. The study reveals that these signatures provide a powerful defense against cuckoo trickery, helping host birds to reject cuckoo eggs before they hatch and destroy the ...

New York, NY—June 18, 2014—In a paper presented—and awarded the prestigious Ken Sevcik Outstanding Student Paper Award—at the ACM SIGMETRICS conference on June 18, Jason Nieh, professor of computer science at Columbia Engineering, and PhD candidate Nicolas Viennot reported that they have discovered a crucial security problem in Google Play, the official Android app store where millions of users of Android, the most popular mobile platform, get their apps. "Google Play has more than one million apps and over 50 billion app downloads, but no one reviews what gets put into ...

WEST LAFAYETTE, Ind. — Researchers have developed a technique that might be used to produce "soft machines" made of elastic materials and liquid metals for potential applications in robotics, medical devices and consumer electronics. Such an elastic technology could make possible robots that have sensory skin and stretchable garments that people might wear to interact with computers or for therapeutic purposes. However, new manufacturing techniques must be developed before soft machines become commercially practical, said Rebecca Kramer, an assistant professor of mechanical ...

Ethnic Tibetan communities in Nepal's highlands are rapidly shrinking as more parents send their children away for a better education and modern careers, a trend that threatens to create a region of graying ghost towns at the top of the world, according to a study that includes Dartmouth College. The findings, which have major social and demographic implications for the Himalayan region, appear in the journal Mountain Research and Development. A PDF of the study is available on request. Taken together, the outmigration of young people, a low birth rate and population ...

The surge in murders of polio vaccination workers in Pakistan has made headlines this year, but little attention has been devoted to the ethical issues surrounding the global health impact of current counterterrorism policy and practice. An essay in the Hastings Center Report reviews the range of harms to population health traceable to counterterrorism operations. It also identifies concerns involving moral agency and responsibility – specifically of humanitarian health workers, military medical personnel, and national security officials and operatives – and it highlights ...

PRINCETON, N.J.—A study that would track the health of 100,000 babies to age 21 has been put on hold following the release of an assessment report issued June 16 by the National Research Council and Institute of Medicine (IOM). While the congressionally mandated report endorses several aspects of the proposed study design of the National Children's Study (NCS), the authors – including Sara McLanahan, the William S. Tod Professor of Sociology and Public Affairs at Princeton University's Woodrow Wilson School of International and Public Affairs – are critical of the sampling ...

A recent study evaluating HER2 testing in a large cohort of women with breast cancer found important limitations in the conventional way HER2 testing is performed in the US and internationally. Dartmouth-Hitchcock Norris Cotton Cancer Center physicians and researchers retested tumor samples from a large group of women and found that 22 out of 530 women had their tumor type incorrectly classified. They reported their findings in a publication titled "Assessing the Discordance Rate between Local and Central HER2 Testing in Women with Locally Determined HER2-Negative Breast ...

Stanford University researchers have devised a noninvasive way to detect heart-transplant rejection weeks or months earlier than previously possible. The test, which relies on the detection of increasing amounts of the donor's DNA in the blood of the recipient, does not require the removal of any heart tissue. "This test appears to be safer, cheaper and more accurate than a heart biopsy, which is the current gold standard to detect and monitor heart-transplant rejection," said Stephen Quake, PhD, professor of bioengineering and of applied physics. "We believe it's likely ...

More than 5 million Americans suffer from Alzheimer's disease, the affliction that erodes memory and other mental capacities, but no drugs targeting the disease have been approved by the U.S. Food and Drug Administration since 2003. Now a paper by an MIT professor suggests that a revamped way of financing Alzheimer's research could spur the development of useful new drugs for the illness. "We are spending tremendous amounts of resources dealing with this disease, but we don't have any effective therapies for it," says Andrew Lo, the Charles E. and Susan T. Harris Professor ...

ITHACA, N.Y. – A study of one of the world's largest and most colorful bird families has dispelled a long-held notion, first proposed by Charles Darwin, that animals are limited in their options to evolve showiness. The study – the largest of its kind – was published today in the Proceedings of the Royal Society B. The natural world is full of showstoppers – birds with brilliant colors, exaggerated crests and tails, intricate dance routines, or virtuosic singing. But it's long been thought that these abilities are the result of trade-offs. For a species to excel in one ...

Washington, DC—As more people are diagnosed with diabetes and other hormone conditions, a growing shortage of endocrinologists could force patients to wait longer to see a doctor, according to a new Endocrine Society workforce analysis published in the Journal of Clinical Endocrinology & Metabolism (JCEM). Endocrinologists are specially trained physicians who diagnose diseases related to the glands. They specialize in treating diabetes, obesity, osteoporosis, thyroid disorders, adrenal diseases, and a variety of other conditions related to hormones. The analysis found ...

Scientists at the Department of Energy's SLAC National Accelerator Laboratory have made the first structural observations of liquid water at temperatures down to minus 51 degrees Fahrenheit, within an elusive "no-man's land" where water's strange properties are super-amplified. The research, made possible by SLAC's Linac Coherent Light Source (LCLS) X-ray laser and reported June 18 in Nature, opens a new window for exploring liquid water in these exotic conditions, and promises to improve our understanding of its unique properties at the more natural temperatures and ...