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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Scientists at the Montreal Neurological Institute and Hospital – The Neuro, McGill University working with a team at Oxford University have uncovered the genetic defect underlying a group of rare genetic disorders.
Oct 9, 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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Vitamin B12 is essential to human health. However, some people have inherited conditions that leave them unable to process vitamin B12. As a result they are prone to serious health problems, including developmental delay, ...
Aug 26, 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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Parents must be considered when states decide to expand genetic screening programs for newborns, according to a new study that looked at mandatory testing panels and political pressure by advocacy groups.
Jun 21, 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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Researchers at Mount Sinai School of Medicine in New York have found new clues in the pathogenesis of skull and skin birth defects associated with a rare genetic disorder, Beare-Stevenson cutis gyrata syndrome (BSS). Using ...
May 15, 2012
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Fanconi anemia (FA) is a rare genetic disorder which affects one person in 350,000. People affected by this disease have defects in DNA repair, and are hypersensitive to oxidative damage, resulting in bone marrow failure ...
May 15, 2012
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A personality profile marked by overly gregarious yet anxious behavior is rooted in abnormal development of a circuit hub buried deep in the front center of the brain, say scientists at the National Institutes of Health. ...
Mar 20, 2012
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