Too often, newborns die of genetic diseases before doctors even know what is to blame. Now scientists have found a way to decode those babies' DNA in just days instead of weeks, moving gene-mapping closer to routine medical ...
Oct 3, 2012
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A Chinese research team, led by Anhui Medical University and BGI, has found the strong genetic evidences of mevalonate kinase gene (MVK) mutations link to disseminated superficial actinic porokeratosis (DSAP). It is a major ...
Sep 16, 2012
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A collaborative expedition into the deep genetics of prostate cancer has uncovered a distinct subtype of the disease, one that appears to account for up to 15 percent of all cases, say researchers at Weill Cornell Medical ...
May 20, 2012
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Scientists at The University of Nottingham have used a revolutionary new DNA-reading technology for a research project that could lead to correct genetic diagnosis for muscle-wasting diseases.
Mar 5, 2012
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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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Scientists from the University of Utah and Omicia, Inc., a privately held company developing tools to interpret personal genome sequences, today announced the publication in Genome Research of a new software tool called VAAST, ...
Jun 23, 2011
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First linked to mutations in the CHD7 gene in 2004, CHARGE syndrome is a rare genetic disorder occurring in approximately 1 in 8,500 to 15,000 births. According to the National Institute of Health (NIH), CHARGE syndrome is ...
May 7, 2024
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Scientists have identified a new method of analyzing genomic data in a major discovery that means patients with unexplained kidney failure are finally getting a diagnosis.
Mar 22, 2024
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Biopsies are currently used to diagnose bowel cancer but require an invasive procedure that offers risks, such as potential infection, and are unable to capture an entire picture of what is happening in a patient's bowel.
Mar 19, 2024
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In an article published in the Journal of Pediatrics, researchers based in Brazil describe the case of a nine-year-old boy admitted to hospital with multiple symptoms and overlapping conditions that made diagnosis difficult, ...
Feb 19, 2024
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