Researchers have identified an elusive gene responsible for Thrombocytopenia with Absent Radii (TAR), a rare inherited blood and skeletal disorder. As a result, this research is now being transformed into a medical test that ...
Feb 26, 2012
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Thousands of never-before-seen genetic variants in the human genome have been uncovered using a new genome sequencing technology. These discoveries close many human genome mapping gaps that have long resisted sequencing.
Nov 10, 2014
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(AP) -- George Eberhardt turned 107 last month, and scientists would love to know how he and other older folks like him made it that far. So he's going to hand over some of his DNA. He's one of 100 centenarians taking part ...
Oct 26, 2011
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Fifty years after participating in studies of pentosuria, an inherited disorder once mistaken for diabetes, 15 families again welcomed medical geneticists into their lives. Their willingness to have their DNA analyzed with ...
Oct 31, 2011
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Bipolar disorder, a neuropsychiatric condition that includes manic and depressive episodes, affects about 1% of the population and is strongly influenced by genetics. About half of patients respond very well to lithium salts ...
Oct 18, 2022
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A team led by University of Maryland School of Medicine Institute for Genome Sciences researchers has unraveled the genomic code of the E. coli bacterium that caused the ongoing deadly outbreak in Germany that began in May ...
Jul 27, 2011
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One afternoon in July, deep within the labyrinthine halls of the Medical Sciences Building at UC San Francisco's hilltop campus on Parnassus Avenue, the laboratory of Alex Marson, MD, Ph.D., is buzzing. Doors clap. Gloves ...
Oct 25, 2018
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Researchers have solved a 60-year-old mystery by identifying a gene that can cause rejection, kidney failure and even death in some blood transfusion patients. In this study, published in Nature Genetics online 7 April, they ...
Apr 7, 2013
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Usually, results from a new study help scientists inch their way toward an answer whether they are battling a health problem or are on the verge of a technological breakthrough. Once in a while, those results give them a ...
Jan 15, 2013
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The "spectacular" success of mRNA (messenger ribonucleic acid) vaccine technology against SARS-CoV-2 provides "just a glimpse of their full potential", according to the authors of a Perspective published by the Medical Journal ...
Jul 5, 2022
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