Many patients who have genetic testing for Lynch syndrome, a hereditary predisposition to colon cancer, receive the inconclusive result "variants of uncertain clinical significance." This can be a problem, as people with ...
Nov 1, 2012
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A Yale-led team of researchers has identified the gene that, when mutated, causes a devastating early-onset disorder in babies known as "malignant migrating partial seizures of infants," or MMPSI. The study appears online ...
Oct 24, 2012
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Scientists studying a rare genetic disorder have identified a molecular pathway that may play a role in schizophrenia, according to new research in the October 10 issue of The Journal of Neuroscience. The findings may one ...
Oct 9, 2012
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A promising study out today in the prestigious Journal of Neuroscience showed that in a mouse model of Rett syndrome, researchers were able to reverse abnormalities in brain activity and improve neurological function by treating ...
Oct 3, 2012
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Researchers at the University of Cincinnati (UC) and Cincinnati Children's Hospital Medical Center have found a new genetic mutation responsible for deafness and hearing loss associated with Usher syndrome type 1.
Sep 30, 2012
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Britain's Health Protection Agency has published an early genetic sequence of the new respiratory virus related to SARS that shows it is most closely linked to bat viruses, and scientists say camels, sheep or goats might ...
Sep 28, 2012
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American and European scientists have found that increasing natural marijuana-like chemicals in the brain can help correct behavioral issues related to fragile X syndrome, the most common known genetic cause of autism.
Sep 25, 2012
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Results of the first-ever clinical drug trial for children with Progeria, a rare, fatal "rapid-aging" disease, demonstrate the efficacy of a farnesyltransferase inhibitor (FTI), a drug originally developed to treat cancer. ...
Sep 24, 2012
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(Medical Xpress)—An experimental drug can improve sociability in patients with fragile X syndrome and may be helpful as a treatment for autism, according to a study.
Sep 24, 2012
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A once-promising discovery linking prostate cancer to an obscure retrovirus derived from mice was the result of an inadvertent laboratory contamination, a forensic analysis of tissue samples and lab experiments – some dating ...
Sep 18, 2012
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