Researchers at the University of Minnesota have uncovered a human enzyme responsible for causing DNA mutations found in the majority of breast cancers. The discovery of this enzyme – called APOBEC3B – may change the way ...
Feb 6, 2013
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Congenital hyperinsulinism is a genetic condition where a baby's pancreas secretes too much insulin. It affects approximately one in 50,000 live births and in severe cases requires the surgical removal of all or part of the ...
Dec 27, 2012
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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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Researchers report that screening for KRAS and BRAF mutations can reduce the cost of anti-EGFR treatment for metastatic colorectal cancer but with a very small reduction in overall survival according to a new study published ...
Nov 28, 2012
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New evidence indicates that Parkinson's disease is preceded by a period during which healthy regions of the brain take over the functions of damaged ones. Neurologist Bart van Nuenen performed a unique study involving people ...
Nov 13, 2012
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Researchers have found the earliest signs of Alzheimer's disease yet detected in a group of people with a rare, inherited form of the disease, according to two Articles published in The Lancet Neurology. The findings raise ...
Nov 5, 2012
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Genetic testing for a certain mutation in pediatric patients is valuable in determining a cause for unexplained hearing loss, according to a study in the November 2012 issue of Otolaryngology–Head and Neck Surgery.
Nov 5, 2012
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Many patients who have genetic testing for Lynch syndrome, a hereditary predisposition to colon cancer, receive the inconclusive result "variants of uncertain clinical significance." This can be a problem, as people with ...
Nov 1, 2012
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Genetics researchers at the University of Adelaide have solved a 40-year mystery for a family beset by a rare intellectual disability – and they've discovered something new about the causes of intellectual disability in ...
Oct 25, 2012
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(Medical Xpress)—A study authored by Rebekah Hamilton, RN, PhD, associate dean of the Rush University College of Nursing, found that young women with a BRCA1 and BRCA2 gene mutation felt different and misunderstood.
Sep 26, 2012
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