Findings

Science  11 Feb 2011:
Vol. 331, Issue 6018, pp. 656
  1. First Find From Undiagnosed Diseases Program

    CREDIT: NHGRI/NIH; UNIVERSITY OF LOUISIANA, LAFAYETTE, NEW IBERIA RESEARCH CENTER

    A multidisciplinary team of physicians and genetic researchers has uncovered the genetic cause of a bizarre vascular disease that leads to a buildup of calcium in the arterial walls. It's the first fruit from the Undiagnosed Diseases Program, a National Institutes of Health (NIH) effort founded in 2008 and aimed at tracking down the causes of mysterious diseases. Through gene array analysis of DNA from two sisters with joint pain who were referred to the program by a Kentucky doctor, the team fingered a mutation in a gene involved in calcification breakdown. The researchers, led by National Human Genome Research Institute Clinical Director William Gahl and NIH clinician Manfred Boehm, believe that the mechanism of the disease, which they dubbed ACDC (arterial calcification due to CD73 deficiency) in a report published online 3 February in The New England Journal of Medicine, could have implications for treating the far more common diseases of osteoporosis and atherosclerosis.

    http://scim.ag/undiagnosed

  2. Unpainting Presidential Portraits

    Washington

    CREDIT: COURTESY OF ERIC L. ALTSCHULER

    George Washington couldn't tell a lie, but Gilbert Stuart's portrait of him, seen on the $1 bill, might fib a bit about the founding father's exact appearance. Stuart's paintings are the best idea we have of what the first five U.S. presidents looked like, but the sixth, John Quincy Adams, was also photographed. Eric Altschuler of the New Jersey Medical School in Newark and Krista Ehlinger of the Massachusetts Institute of Technology created a computer algorithm to model Stuart's artistic license by marking the differences between Quincy Adams's portrait and photograph, along with those between other pairs of photos and Stuart portraits. They then applied the results to Stuart's portraits of individuals who lived before cameras, creating “photographs” of the early presidents. Their method is described online in Perception this month. http://scim.ag/gw-portrait

  3. First Steps Toward Fighting Ebola in the Wild

    CREDIT: UNIVERSITY OF LOUISIANA, LAFAYETTE, NEW IBERIA RESEARCH CENTER

    This week, chimpanzees took part in an Ebola vaccine experiment. But in a departure from decades of research with chimps to develop vaccines for humans, the aim this time is to help the animals themselves. Researchers at the New Iberia Research Center, a branch of the University of Louisiana, Lafayette, inoculated six chimps with a vaccine against Ebola, which is decimating wild ape populations.

    The genetically engineered vaccine—developed by Integrated BioTherapeutics Inc. in Gaithersburg, Maryland, to defend humans against biowarfare—cannot cause an infection; the experiment will simply assess its safety and ability to trigger an immune response. Primatologist and ecologist Peter Walsh, the driving force behind the experiment, ultimately wants to vaccinate wild apes against Ebola. “The objective is to show the conservation community that the vaccine won't kill chimpanzees or gorillas,” says Walsh, who worked until recently at the Max Planck Institute for Evolutionary Anthropology in Leipzig, Germany.

    Walsh has pushed for vaccinating wild apes for several years and has met some steep resistance. But Max Planck primatologist and conservationist Christophe Boesch supports Walsh's efforts. “If we want apes to survive in Ebola-infected areas, vaccination is one of the few realistic solutions,” he says. http://scim.ag/chimp-vaccine

  4. A Blood Test for Prion Disease

    Scientists have developed a blood test that can detect variant Creutzfeldt-Jakob disease (vCJD), the human version of mad cow disease.

    A misfolded version of the so-called prion protein, PrP, causes vCJD, but it turns up in the blood only in extremely low concentrations, stymieing efforts to develop a blood test. Researchers had previously shown that prions bind tightly to stainless steel. That was initially bad news: It means that they are especially hard to remove from surgical and dental instruments. Now Graham Jackson, John Collinge, and colleagues at the Medical Research Council's Prion Unit at University College London have turned that characteristic to their advantage, using microscopic stainless steel particles to capture and concentrate prions from samples of blood.

    The researchers ran their test on 190 blood samples from vCJD patients, healthy controls, and patients with other neuro-degenerative diseases. The assay correctly identified 15 of the 21 samples from patients with clinical vCJD and produced no false positives. Such a test could help diagnose patients suspected of having the disease and, with some refining, could someday be used to screen donated blood.

  5. Try This at Home

    If there were a Nobel Prize for the best scientific party trick, this would be a contender. Take two tin cans, one with the top removed and the other with both ends cut out to form a tube. Turn the closed-bottomed can upside down and push both cans into dense sand. The closed-bottomed can will sink more easily than the open tube. That's weird because if you push the two cans into water, exactly the opposite will happen.

    In water, the open-ended tube slips right in, but the closed-bottomed can traps air, creating an upward buoyant force. In sand, that same trapped air rushes out from beneath the closed can's rim, making the sand act like a fluid that can flow out of the way and easing the can's descent, Raphaël Clément, Stéphane Douady, and colleagues at Université Paris Diderot report in a paper in press at Physical Review Letters.

    Clément, a graduate student, discovered the surprising effect with another student while playing with empty tea canisters. The researchers were probably lucky, as the effect likely works only with certain grain sizes and cylinder sizes, says Stephan Koehler, a physicist at Worcester Polytechnic Institute in Massachusetts: “I think they really hit the sweet spot in a huge parameter space.”

    http://scim.ag/sand-trick

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