Researchers from UC San Diego School of Medicine Department of Pediatrics joined an international research team, including colleagues from The University of Western Australia, the Genome Institute of Singapore, Emma Children's Hospital, The Netherlands, and Imperial College London, UK. The group studied naturally occurring genetic variation in almost 900 cases of Kawasaki disease from these countries. UC San Diego coordinated the U.S. genetics effort, collecting DNA samples from around the country.
"KD tends to run in families, suggesting that there are genetic components to disease risk," said Jane C. Burns, M.D., professor and Chief, Division of Allergy, Immunology, and Rheumatology, UC San Diego Department of Pediatrics. "We have been trying to understand the step by step development of this disease (pathogenesis) and the chain of events leading to it, using a biological approach but with limited success. This robust, systematic genome wide study is simply letting the genetics tell us what are the key genes in KD pathogenesis. Without this research these newly discovered genes of interest might have continued to remain hidden."
Kawasaki disease is an unusual and serious illness of young children that causes high fever, rash, red eyes and lips, swollen glands, and swollen hands and feet with peeling skin. The disease also causes damage of the coronary arteries in a quarter of untreated children and may increase the risk of atherosclerosis in early adulthood. The cause of Kawasaki disease is unknown, but it seems to be due to an infection in susceptible children. There is no diagnostic test for Kawasaki disease, and current treatment fails to prevent coronary damage in at least one in 10-20 children and death in one in 1,000 children.
This study found that genes involved in cardiovascular function and inflammation may be particularly important and some seem to function together. The authors consider that these findings will lead to new diagnostics and better treatment and may be informative about adult cardiovascular disease as well.
The findings do not yet prove that the new genes are functionally involved. Other genetic variants may be important, especially in different ethnic groups. The authors are planning detailed studies of the function of these genes and larger collaborative studies including East Asian populations, who are at particular risk of Kawasaki disease, with 1 in 150 Japanese children affected.
"So now it is time to come back to the biology and study the genes and the pathways and their role in KD pathogenesis," explained associate project scientist Chisato Shimizu, M.D., Kawasaki Disease Research Center, UC San Diego School of Medicine. "Most importantly, we will be able to use these data to help us predict which children with Kawasaki disease are at most risk for heart disease from their KD."
"Our laboratory is the focal point where the combination of academic research and clinical investigation lead to better treatment and patient outcome," explained Kawasaki Disease Research Center Assistant Director, Adriana Tremoulet, M.D., assistant adjunct professor, UC San Diego Department of Pediatrics and Rady Children's Hospital. "UC San Diego represents the entire U.S. genetics consortium. Through a grant from the NIH we have been able to support DNA collection in Los Angeles, Hawaii, Chicago, and Boston, as well as Japan and Finland. We coordinate the entire U.S. KD genetics effort and are the conduit for U.S. DNA to join the international effort based in Singapore."
Burns says the next steps include "drilling down" on candidate genes and pathways that were discovered in the genome-wide analysis. This detailed analysis will identify the exact genetic differences that influence disease susceptibility and outcome.
"We can already see a way in which this suggests a new treatment for KD that may be much less expensive than the current treatment with IVIG (intravenous immunoglobulin)," said Burns.
Penn study identifies new malaria parasites in wild bonobos
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17.11.2017 | National Institute of Standards and Technology (NIST)
The WHO reports an estimated 429,000 malaria deaths each year. The disease mostly affects tropical and subtropical regions and in particular the African continent. The Fraunhofer Institute for Silicate Research ISC teamed up with the Fraunhofer Institute for Molecular Biology and Applied Ecology IME and the Institute of Tropical Medicine at the University of Tübingen for a new test method to detect malaria parasites in blood. The idea of the research project “NanoFRET” is to develop a highly sensitive and reliable rapid diagnostic test so that patient treatment can begin as early as possible.
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The formation of stars in distant galaxies is still largely unexplored. For the first time, astron-omers at the University of Geneva have now been able to closely observe a star system six billion light-years away. In doing so, they are confirming earlier simulations made by the University of Zurich. One special effect is made possible by the multiple reflections of images that run through the cosmos like a snake.
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The quantum world is fragile; error correction codes are needed to protect the information stored in a quantum object from the deteriorating effects of noise. Quantum physicists in Innsbruck have developed a protocol to pass quantum information between differently encoded building blocks of a future quantum computer, such as processors and memories. Scientists may use this protocol in the future to build a data bus for quantum computers. The researchers have published their work in the journal Nature Communications.
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21.11.2017 | Physics and Astronomy
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