Evie Walker sits on Alison's lap, playing a game she never grows tired of: turning her mum's hand over and over, stroking and examining it. When she takes a break and looks around, it is with the open-mouthed look of curiosity ...
Sep 18, 2018
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A table in a recently published paper tells the story of 30 families who have, sometimes after years of searching, finally received an answer about the condition that has plagued one or more family members. The Brigham Genomic ...
Sep 17, 2018
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A multidisciplinary team at KK Women's and Children's Hospital (KKH) has developed a test to enable faster diagnosis of rare diseases to help critically ill children. Rapid genomic sequencing or RapidSeq of critically ill ...
Sep 17, 2018
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As the cost of genome sequencing decreases, researchers and clinicians are debating whether all newborns should be sequenced at birth, facilitating a lifetime of personalized medical care. But while sequencing the genomes ...
Aug 15, 2018
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In cancer cells, genetic errors wreak havoc. Misspelled genes, as well as structural variations—larger-scale rearrangements of DNA that can encompass large chunks of chromosomes—disturb carefully balanced mechanisms that ...
Jul 12, 2018
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Once upon a time in Europe, pregnant women avoided rabbits to prevent their babies from being born with a "harelip." But, that apparently isn't the only misconception about the condition now known as cleft lip.
May 1, 2018
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From 23 and Me and Ancestry DNA to research laboratories, genome sequencing has become widely available, but better understanding is needed on when it should be used and whether it should be covered by health plans, says ...
Apr 30, 2018
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Maverick Coltrin entered the world a seemingly healthy 8-pound boy. But within a week, he was having seizures that doctors could neither explain nor control. They warned that he would probably die within a few months.
Apr 27, 2018
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Disease hunters are using genetic sequencing in their investigation of the ongoing food poisoning outbreak linked to romaine lettuce, a technique that is revolutionizing the detection of germs in food.
Apr 26, 2018
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Rapid genomic sequencing for babies and children with suspected genetic conditions improves health outcomes and saves healthcare dollars – transforming rare disease diagnosis in paediatric and neonatal intensive care.
Mar 28, 2018
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