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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The European X-ALD project undertook an initiative to understand the mechanisms responsible for the pathogenesis of adrenoleukodystrophy (ALD). The gene therapy approach for treating ALD developed during the study brings ...
Jul 30, 2012
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Researchers at Emory University School of Medicine have identified five rare mutations in a single gene that appear to increase the chances that a boy will develop an autism spectrum disorder (ASD).
Jul 12, 2012
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Using a mouse model of autism, researchers at the University of Cincinnati (UC) and Cincinnati Children's Hospital Medical Center have successfully treated an autism spectrum disorder characterized by severe cognitive impairment.
Jul 2, 2012
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Groups supporting people with Down's syndrome on Thursday called on the European Court of Human Rights not to recognise the right to tests that would detect the condition before birth.
Jun 28, 2012
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The hormone oxytocin - often referred to as the "trust" hormone or "love hormone" for its role in stimulating emotional responses - plays an important role in Williams syndrome (WS), according to a study published June 12, ...
Jun 22, 2012
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New research by scientists at the University of North Carolina School of Medicine may have pinpointed an underlying cause of the seizures that affect 90 percent of people with Angelman syndrome (AS), a neurodevelopmental ...
Jun 6, 2012
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Scientists have successfully sequenced the genome of a baby in the womb without tapping its protective fluid sac. This non-invasive approach to obtaining the fetal genome is reported in the June 6 issue of Science Translational ...
Jun 6, 2012
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Researchers studying rare genetic disorders have uncovered insights into those diseases in biological structures that regulate chromosomes when cells divide. Focusing on the cohesin complex, a group of proteins forming a ...
May 29, 2012
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A new approach to investigating hard-to-find chromosomal abnormalities has identified 33 genes associated with autism and related disorders, 22 for the first time. Several of these genes also appear to be altered in different ...
Apr 19, 2012
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