Monthly Archives: January 2015

Sequencing genetic duplications could aid clinical interpretation

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Copy number variations (deletions or duplications of large chunks of the genome) are a major cause of birth defects, intellectual disability, autism spectrum disorder and other developmental disorders. Still, geneticists can definitively say how a CNV, once discovered in someone's DNA, leads to one of these conditions in just a fraction of cases.

Sequencing genetic duplications could aid clinical interpretation

Source logo
Copy number variations (deletions or duplications of large chunks of the genome) are a major cause of birth defects, intellectual disability, autism spectrum disorder and other developmental disorders. Still, geneticists can definitively say how a CNV, once discovered in someone's DNA, leads to one of these conditions in just a fraction of cases.

Combination Drug Therapy Shows Promise for Recurrent Endometrial Cancer

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Researchers seeking to improve treatment outcomes for women with recurrent endometrial cancer – the most commonly diagnosed gynecologic malignancy in the U.S., killing more than 8,000 women each year – have reported positive results through targeted therapy that uses a combination of the drugs everolimus and letrozole. Their findings have been reported in the Journal of Clinical Oncology.