(Medical Xpress)—The genetic malady known as Fragile X syndrome is the most common cause of inherited autism and intellectual disability. Brain scientists know the gene defect that causes the syndrome and understand the ...
Jun 4, 2013
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Gaucher disease causes debilitating and sometimes fatal neurodegeneration in early childhood. Recent studies have uncovered a link between the mutations responsible for Gaucher disease and an increased risk of developing ...
May 23, 2013
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(Medical Xpress)—A three-year multinational study has tracked and detailed the progression of Huntington's disease (HD), predicting clinical decline in people carrying the HD gene more than 10 years before the expected ...
May 21, 2013
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A study led by researchers from Plymouth University Peninsula Schools of Medicine and Dentistry has for the first time revealed how the loss of a particular tumour suppressing protein leads to the abnormal growth of tumours ...
May 16, 2013
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Every year, thousands of babies are born with severely malformed hearts, disorders known collectively as congenital heart disease. Many of these defects can be repaired though surgery, but researchers don't understand what ...
May 12, 2013
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(Medical Xpress)—A fresh round of trials to evaluate gene therapy for the heart is set to begin in a couple of weeks. The British Heart Foundation will be sponsoring the study, which seeks to replace defective calcium pump ...
The spleen is rarely noticed, until it is missing. In children born without this organ, that doesn't happen until they become sick with life-threatening bacterial infections. An international team of researchers led by scientists ...
Apr 11, 2013
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As the body ages, the physical effects are notable; wrinkles in the skin appear, physical exertion becomes harder. But there are also less visible processes going on. Inside aging brains there is another phenomenon at work, ...
Apr 8, 2013
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(Medical Xpress)—Researchers have identified a new disorder caused by a genetic mutation that leads to short sightedness and deafness. They say the new link between the two sensory problems could lead to better understanding ...
Apr 8, 2013
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(Medical Xpress)—Researchers have found that missteps in a basic cellular process, RNA splicing, is the culprit behind a class of rare neurological disorders manifested by intellectual disability and stunted development.
Mar 29, 2013
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