Scientists have identified genetic mutations that appear to be a key culprit behind a suite of birth defects called ciliopathies, which affect an estimated 1 in 1,000 births. In a paper published online this week in Nature ...
May 10, 2016
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Running large, multi-gene sequencing panels to assess cancer risk is a growing trend in medicine as the price of the technology declines and more precise approaches to cancer care gain steam. The tests are particularly common ...
May 5, 2016
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With all that we humans put in our mouths, one of our digestive systems' most important jobs is self-preservation – keeping the linings of the intestines and other vital organs from breaking down under the strain they endure. ...
Apr 13, 2016
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The generally accepted medical maxim that elevated HDL cholesterol (HDL-C) is "good" has been overturned by a multi-center, international study, led by researchers from the Perelman School of Medicine at the University of ...
Mar 10, 2016
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Although Huntington's disease is caused by mutations in a single gene, understanding how it ravages the brain and body has been anything but simple.
Mar 7, 2016
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Congenital heart disease is the most common birth defect and the leading cause of all infant deaths in the United States. Mutations in the gene TBX5 have been shown to cause both rare and more prevalent forms of congenital ...
Feb 8, 2016
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Columbia University Medical Center (CUMC) and University of Iowa scientists have used a new gene-editing technology called CRISPR, to repair a genetic mutation responsible for retinitis pigmentosa (RP), an inherited condition ...
Jan 27, 2016
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Mutations in the peripherin-2 gene are among the major causes of retinal degeneration. LMU researchers have now discovered why different mutations in the gene preferentially affect one or other of the two types of photoreceptor ...
Jan 26, 2016
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A common mutation in the TM6SF2 gene raises liver values but at the same time improves blood lipid values in healthy children, according to a recent study from the University of Eastern Finland. Children who carry the gene ...
Jan 13, 2016
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A new technique for pinpointing the exact DNA regions that impact gene regulation lays the groundwork for identifying new drug targets and for developing diagnostics to predict disease risk, A*STAR scientists report.
Jan 6, 2016
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