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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Intellectual disability due to Fragile X and Down syndromes involves similar molecular pathways report researchers in The EMBO Journal. The two disorders share disturbances in the molecular events that regulate the way nerve ...
Aug 3, 2012
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Genetics play an important role in the variation in, and risk of, low testosterone concentrations in men. A study by the CHARGE Sex Hormone Consortium, published in the open-access journal PLoS Genetics on Thursday, 6th October, ...
Oct 6, 2011
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New research from the Stowers Institute for Medical Research examines how cavefish, surface-dwelling river fish that flooded into underground cave systems over 100,000 years ago, developed unique metabolic adaptations to ...
May 12, 2022
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An international research team has discovered the genetic risk factors for restless legs syndrome (RLS), a disorder that triggers unpleasant sensations in people's legs at night. The study, presented in the journal PLoS Genetics, ...
Aug 4, 2011
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Sudden cardiac death is always a shocking, tragic event, especially when it occurs at a young age. But, for the first time, scientists are unraveling how genetic defects can help predict the risk of dying suddenly in individuals ...
May 10, 2011
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Children with Down syndrome (DS) have an increased risk of developing leukemia, in particular acute megakaryoblastic leukemia (AMKL) and acute lymphoblastic leukemia (ALL). Through their studies in a mouse model of DS, a ...
Feb 22, 2012
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Young people living with a genetic alteration that increases the risk of psychiatric disorders have markedly different brain activity during sleep, a study led by researchers from the Universities of Bristol and Cardiff published ...
Aug 30, 2022
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In a development that may finally offer hope to children with Dravet syndrome and their parents, a promising investigational new therapeutic appears to alter the destructive course of the deadly disease in a mouse model.
Aug 26, 2020
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Atop exercise researcher at the University of Virginia School of Medicine is urging clinical trials of exercise in patients with Friedreich's ataxia after finding that physical activity has a "profound" protective effect ...
Jun 16, 2020
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