The most common form of heritable cognitive impairment is Fragile X Syndrome, caused by mutation or malfunction of the FMR1 gene. Loss of FMR1 function is also the most common genetic cause of autism. Understanding how this ...
Oct 30, 2011
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A discovery by scientists at the Salk Institute for Biological Studies might explain why some premature infants fail to respond to existing treatments for a deadly respiratory distress syndrome (RDS) and offers clues for ...
Oct 18, 2011
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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 findings from a 16-year study confirm that the Diagnostic and Statistic Manual of Mental Disorders (DSM), the gold-standard for the classification of mental health conditions, can be used to accurately identify autism ...
Oct 4, 2011
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Researchers at Vanderbilt University Medical Center, in collaboration with Seaside Therapeutics in Cambridge, Mass., have achieved a milestone in the development of a potential new treatment for fragile X syndrome, the most ...
Sep 16, 2011
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The first transgenic mouse model of a rare and severe type of autism called Timothy Syndrome is improving the scientific understanding of autism spectrum disorder in general and may help researchers design more targeted interventions ...
Sep 12, 2011
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In Leigh syndrome, infants are born apparently healthy only to develop movement and breathing disorders that worsen over time, often leading to death by the age of 3. The problem is that the mitochondria responsible for powering ...
Sep 6, 2011
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UT Southwestern Medical Center has developed a new lifesaving genetic screening program for families at high risk of contracting colorectal cancer, a deadly yet highly preventable form of cancer.
Sep 1, 2011
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Hair follicle keratinocytes offer a simple and accessible route to generate patient-specific induced pluripotent stem cells, iPSCs, with minimum inconvenience for the patients, shows study presented at the ESC Congress 2011 ...
Aug 29, 2011
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A scientist investigating why those with Down syndrome often have poor balance and motor coordination has found that key eye reflexes are substantially altered.
Aug 24, 2011
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