Using nanopore sequencing, a rapid third-generation cytogenetic analysis tool, investigators are now able to accurately detect specific genomic disorders in a fraction of the time it takes to conduct traditional and molecular ...
Jun 13, 2022
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Myelodysplastic syndrome is an umbrella term used to describe disorders characterized by the bone marrow's inability to produce normal blood cells. Researchers from Charité - Universitätsmedizin Berlin have found that a ...
Apr 12, 2017
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(Medical Xpress)—Five scientists, including two from Simon Fraser University, have discovered that 30 per cent of our likelihood of developing Multiple Sclerosis (MS) can be explained by 475,806 genetic variants in our ...
Oct 25, 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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Chromosomal abnormalities that result in birth defects and genetic disorders like Down syndrome remain a significant health burden in the United States and throughout the world, with some current prenatal screening procedures ...
May 6, 2014
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Down's syndrome – also known as trisomy 21 – is a genetic disorder caused by an additional third chromosome 21. Although this genetic abnormality is found in one out of 700 births, only 20 percent of foetuses with trisomy ...
Jan 19, 2018
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Every year, roughly 1 in 1,000 children worldwide are born with Down's syndrome. This developmental disorder, associated with potentially severe intellectual and learning disabilities among other characteristics, is caused ...
Apr 23, 2014
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Researchers at Moffitt Cancer Center have completed a phase II clinical trial to determine the safety and efficacy of dasatinib for patients with higher-risk myelodysplastic syndromes (MDS), chronic myelomonocytic leukemia, ...
Mar 21, 2013
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University of California-Irvine neurobiologists have discovered a protein complex in neurons that is essential to long-term memory formation and is also corrupted in the brains of people with some developmental disabilities ...
Jun 5, 2013
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A Japanese pharmaceutical company said Monday it will begin therapeutic testing of a drug it hopes will slow the decline in quality of life for some people with Down's syndrome.
Jul 1, 2013
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