The European Medicines Agency (EMA) has granted "orphan designation" to BMS 204352, a molecule developed by the CNRS to treat Fragile X Syndrome, a rare genetic disease for which there exists no treatment. Protocol assistance ...
Nov 17, 2014
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Down syndrome is the most common chromosomal abnormality in humans, involving a third copy of all or part of chromosome 21. In addition to intellectual disability, individuals with Down syndrome have a high risk of congenital ...
Oct 24, 2014
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The disease, which has been named 'chronic atrial intestinal dysrhythmia syndrome', is a serious condition caused by a rare genetic mutation. This finding demonstrates that heart and guts rhythmic contractions are closely ...
Oct 5, 2014
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Screening families of patients with bowel cancer for a genetic condition would cut their risk of developing bowel, womb, and ovarian cancers, new research has found.
Sep 30, 2014
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In the largest gene-hunting effort ever conducted in irritable bowel syndrome, IBS, researchers have found that some regions in the genome may be associated with an increased risk of developing the disease. The results from ...
Sep 24, 2014
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(Medical Xpress)—A rare genetic disorder known as Jacobsen syndrome has been linked with autism, according to a recent joint investigation by researchers at San Diego State University and the University of California, San ...
Sep 15, 2014
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The University of Liverpool is to lead and international study to investigate the effectiveness of two drugs used to treat a rare but serious disease, in a project that will save the NHS a minimum of £500k.
Sep 9, 2014
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Children affected by trisomy 21 (or Down syndrome) are 50 to 500 times more likely to develop leukemia than other children.
Aug 8, 2014
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Of the 143,000 patients diagnosed with colorectal cancer annually in the U.S., up to 25 percent have a familial risk of colorectal cancer. A new guideline from the U.S. Multi-Society Task Force on Colorectal Cancer recommends ...
Aug 5, 2014
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Leigh Ann Kaman fell to the floor when doctors told her that her newborn son, Benjamin, had Down syndrome. She and her husband, Brian, felt totally alone.
Jul 9, 2014
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