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Showing posts with the label Science News

Researchers discover eight new epilepsy genes

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Approximately 30 per cent of patients with epilepsy do not respond to anti-epileptic drugs. In these cases, all neurologists can do is attempt to find the right combination of medication through trial and error. A treatment that could target the root cause of epilepsy is a beacon of hope for these patients. But identifying the cause of the pathology is no easy feat. "There are many genes involved," said Jacques Michaud, pediatrician at CHU Sainte-Justine and Professor of Pediatrics and Neuroscience at the Faculty of Medicine of Université de Montreal. "Each child can have different genetic mutations. Often the clinical symptoms do not clearly reflect the cause of epilepsy, which makes choosing the right treatment more difficult." A recent study by Michaud examining 200 children with epileptic encephalopathy - epilepsy combined with intellectual or overall developmental disability - and their parents could lead to the development of a more rational anti-epilepti

Booze and pot use in teens lessens life success

Young adults dependent on marijuana and alcohol are less likely to achieve adult life goals, according to new research by UConn Health scientists presented November 5 at the American Public Health Association 2017 Annual Meeting & Expo. UConn Health researchers examined data from the Collaborative Study on the Genetics of Alcoholism (COGA) to track the effect teenage alcohol and marijuana use has on the achievement of life goals, defined as educational achievement, full time employment, marriage and social economic potential. The study includes 1,165 young adults from across the United States whose habits were first assessed at age 12 and then at two-year intervals until they were between 25 and 34 years old. Most of the study participants had an alcoholic grandparent, parent, aunt or uncle. Overall, individuals who were dependent on either marijuana or alcohol during their teen years achieved lower levels of education, were less likely to be employed full time, were less like

New method to preserve tissue yields more viable cells for rheumatoid arthritis research

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A new method for acquiring viable cells from cryopreserved tissue samples could provide researchers with a model for collecting and analyzing samples from different study sites to conduct more centralized research, according to new research findings presented this week at the 2017 ACR/ARHP Annual Meeting in San Diego. Rheumatoid arthritis (RA) is a chronic disease that causes pain, stiffness, swelling, and limitation in the motion and function of multiple joints. Though joints are the principal body parts affected by RA, inflammation can develop in other organs as well. An estimated 1.3 million Americans have RA, and the disease typically affects women twice as often as men. The Accelerating Medicines Partnership (AMP) program's RA/SLE Network aims to discover new, more effective ways to treat the inflammatory response that causes these chronic diseases by identifying the cell types and signals central to driving inflammation in RA patients. Before the program's researche

How chromosomes 'cheat' for the chance to get into an egg

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Each of your cells contains two copies of 23 chromosomes, one inherited from your father and one from your mother. Theoretically, when you create a gamete -- a sperm or an egg -- each copy has a 50-50 shot at being passed on. But the reality isn't so clearcut. Scientists have observed that chromosomes can "cheat," biasing the chance that they will make it into a sex cell. Now, a team from the University of Pennsylvania has shown how this bias arises in female cells. With careful observation and experiments with mouse oocytes, the precursors of eggs, they've detected molecular signals that create an asymmetry in the machinery that drives meiosis, the cell-division process that gives rise to gametes. Certain chromosomes, the researchers found, exploit this asymmetry to move themselves over to the "right" side of a cell during division and wind up in the egg. By casting light on a common yet poorly understood facet of meiosis, the findings may lead to a

New System for Treating Colorectal Cancer Can Lead to Complete Cure

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Researchers at Memorial Sloan Kettering Cancer Center in New York City and Massachusetts Institute of Technology in Boston have developed a new, three-step system that uses nuclear medicine to target and eliminate colorectal cancer. In this study with a mouse model, researchers achieved a 100-percent cure rate--without any treatment-related toxic effects. The study is reported in the November featured article in  The Journal of Nuclear Medicine . Until now, radioimmunotherapy (targeted therapy) of solid tumors using antibody-targeted radionuclides has had limited therapeutic success. "This research is novel because of the benchmarks reached by the treatment regimen, in terms of curative tumor doses, with non-toxic secondary radiation to the body's normal tissues," explains Steven M. Larson, MD, and Sarah Cheal, PhD, of Memorial Sloan Kettering Cancer Center. "The success in murine tumor models comes from the unique quality of the reagents developed by our group,

University of Iowa researchers use CRISPR engineering to prevent certain glaucoma in mice

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A University of Iowa-led team of researchers has used the gene editing method called CRISPR-Cas9 to disrupt a mutant gene that is responsible for some forms of glaucoma, one of the most common causes of irreversible blindness. The study involves the elimination of the mutated myocilin protein from a mouse model of human glaucoma and cultured human cells through the use of CRISPR-Cas9 , which can alter DNA sequences and gene function. Mutations in myocilin are implicated in juvenile- and adult-onset primary open-angle glaucoma. In their experiments, researchers found that removing the mutated protein by disrupting the mutant myociln results in lowered intraocular pressure, which in turn prevents glaucomatous damage to the eye. "As scientists we don't want to just discover a diseased gene, we want to understand what the gene does and, in this case, have a better understanding of glaucoma so that it can be more effectively treated," says Val Sheffield, MD, PhD, Carve