Balanced chromosomal abnormalities (BCAs), a category of structural changes to the human genome, may account for a large portion of birth defects related to brain development and function, according to research presented ...
Oct 11, 2015
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Researchers at the University of Oslo and Oslo University Hospital have found the genetic cause of a previously undescribed disease. With this, they have solved an over ten year old medical conundrum.
Sep 1, 2015
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To mend a broken heart—that is, to regenerate a damaged cardiac muscle—it helps to know how hearts are built. "How does one stem cell, which has no specific identity, develop into multiple cell types that organize into ...
Aug 4, 2015
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Yale researchers successfully corrected the most common mutation in the gene that causes cystic fibrosis, a lethal genetic disorder.
Apr 27, 2015
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X-linked intellectual disability is a disorder that predominantly affects men and can have highly variable clinical manifestations. Scientists at the Max Planck Institute for Molecular Genetics in Berlin have found seven ...
Feb 13, 2015
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Fatih Uckun, Jianjun Cheng and their colleagues have taken the first steps towards developing a so-called "smart bomb" to attack the most common and deadly form of childhood cancer—called B-lineage acute lymphoblastic leukemia ...
Nov 5, 2014
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According to recent studies, approximately one out of every 40 individuals in the United States is a carrier of the gene responsible for spinal muscular atrophy (SMA), a neurodegenerative disease that causes muscles to weaken ...
Sep 15, 2014
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Twist and hold your neck to the left. Now down, and over to the right, until it hurts. Now imagine your neck – or arms or legs – randomly doing that on their own, without you controlling it.
Jun 17, 2014
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Baylor College of Medicine scientists defined a previously unrecognized genetic cause for two types of birth defects found in newborn boys, described in a report published today in the journal Nature Medicine.
Jun 1, 2014
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A Flinders University researcher is searching for answers as to why some leukaemia sufferers live a normal lifespan while others succumb to the disease within months.
Apr 23, 2014
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