Drugs used to block copper absorption for a rare genetic condition may find an additional use as a treatment for certain types of cancer, researchers at Duke Medicine report.
Apr 9, 2014
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An international team led by researchers at the Broad Institute and Massachusetts General Hospital (MGH) has identified mutations in a gene that can reduce the risk of developing type 2 diabetes, even in people who have risk ...
Mar 2, 2014
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(Medical Xpress)—University of Michigan School of Public Health researchers have developed a new method for identifying rare gene variants, which scientists now believe are more informative for human disease studies than ...
Dec 17, 2013
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Cambridge scientists have discovered a rare genetic disease which predisposes patients to severe respiratory infections and lung damage. Because the scientists also identified how the genetic mutation affects the immune system, ...
Oct 17, 2013
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Children born with rare, inherited conditions known as Congenital Disorders of Glycosylation, or CDG, have mutations in one of the many enzymes the body uses to decorate its proteins and cells with sugars. Properly diagnosing ...
May 10, 2013
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By looking at the entire DNA from this one patient's tumor, researchers have found a genetic anomaly that provides an important clue to improving how this cancer is diagnosed and treated.
Jan 15, 2013
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(Medical Xpress)—A team of researchers led by the Institute of Cancer Research, London, have found that rare mutations in a gene called PPM1D are linked to an increased risk of breast and ovarian cancer. The mutations are ...
Dec 17, 2012
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Scientists studying a rare genetic disorder have identified a molecular pathway that may play a role in schizophrenia, according to new research in the October 10 issue of The Journal of Neuroscience. The findings may one ...
Oct 9, 2012
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(Medical Xpress)—During an ice climbing trip to the Canadian Rockies last Christmas, two young researchers from the UW, Michael Schmitt and Jesse Salk, talked about a simple but powerful idea to get better results when ...
Oct 1, 2012
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Researchers at UCLA have been searching for the cause of a rare disease that virtually no one has ever heard: PCH1, or pontocerebellar hypoplasia type 1, which attacks the brain and the spine.
Apr 30, 2012
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