Researchers at Mount Sinai School of Medicine have identified the genetic cause of a rare and fatal bone disease by studying frozen skin cells that were taken from a child with the condition almost fifty years ago. Their ...
Aug 29, 2012
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Intellectual disability due to Fragile X and Down syndromes involves similar molecular pathways report researchers in The EMBO Journal. The two disorders share disturbances in the molecular events that regulate the way nerve ...
Aug 3, 2012
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University of Michigan researchers have discovered a new cause of congenital myopathy: a mutation in a previously uncharacterized gene, according to research published this month in the American Journal of Human Genetics.
Jul 25, 2012
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Scientists now have clues to how a gene mutation discovered in families affected with congenital heart disease leads to underdevelopment of the walls that separate the heart into four chambers. A Nationwide Children's Hospital ...
Jun 26, 2012
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Scientists have found new genetic information that shows how harmful bacteria cause the acute diarrheal disease shigellosis, which kills more than a million people worldwide each year.
Jun 11, 2012
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In a study published in the May 2012 issue of the Journal of the American Academy of Child and Adolescent Psychiatry, led by Mr. Sven Sandin, of the Karolinska Institutet, Sweden and King's College London, researchers analyzed ...
Apr 26, 2012
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(Medical Xpress) -- Researchers have identified genetic causes in nearly 1 in 5 patients who suffer a type of heart failure called dilated cardiomyopathy.
Mar 27, 2012
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Scientists at Dana-Farber Cancer Institute have identified a gene mutation that underlies the vast majority of cases of Waldenstrom's macroglobulinemia, a rare form of lymphoma that has eluded all previous efforts to find ...
Dec 12, 2011
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(Medical Xpress) -- Researchers investigating the genetic cause of a disease in just two patients have made an unexpected finding which has opened a major new possibility for treating serious diseases such as cancer.
Oct 24, 2011
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The disease is heartbreaking. It turns babies into ragdolls and extinguishes lives just as they are getting started. But one USC Dornsife scientist is working to unravel the mystery behind the leading genetic cause of infant ...
Oct 13, 2011
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