More than 750,000 people in the United States have dilated cardiomyopathy, a potentially life-threatening condition in which the heart's main pumping chamber, the left ventricle, enlarges and grows increasingly weak. Research ...
Jul 2, 2019
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Twenty-four to 48 hours after birth, every newborn in the U.S. will have a few drops of blood drawn and sent to a lab to be screened for hidden and potentially life-threatening disorders. This process, known as universal ...
Jul 1, 2019
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An individual's genetic makeup, or genome, can reveal important and intimate details of his or her biology. Now, scientists are showing that RNA, the lesser-known molecular cousin of DNA, is powerful in its own right and ...
Jun 20, 2019
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As doctors, we deal with a lot of uncertainty. Often, it is difficult to diagnose what is making a patient sick because symptoms from both infectious and non-infectious diseases can be indistinguishable from each other.
Jun 13, 2019
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Newborn screening is required in the U.S. and differs slightly depending on which state you live in. For the most part, it's done before a newborn baby leaves the hospital and includes a blood test that screens for 30-50 ...
May 24, 2019
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Investigators at the University of British Columbia (UBC)/Centre for Molecular Medicine & Therapeutics (CMMT) and BC Children's Hospital have examined more than 25 years of data to reveal new insights into predicting the ...
May 16, 2019
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Researchers at Rady Children's Institute for Genomic Medicine (RCIGM) have utilized a machine-learning process and clinical natural language processing (CNLP) to diagnose rare genetic diseases in record time. This new method ...
Apr 24, 2019
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Human genomes vary quite a bit from individual to individual. These differences include single nucleotide changes, or "spelling mistakes" in the DNA sequence, but even more variation comes from structural variants, which ...
Apr 16, 2019
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A new study from BC Children's Hospital, the University of British Columbia (UBC) and an international team of researchers published in the New England Journal of Medicine is the first to identify a rarely-seen type of DNA ...
Apr 15, 2019
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Geneticists discovered a molecular trigger for a severe autism-related disorder that has enabled them to start testing a potential therapy targeting a specific protein in the brain.
Feb 11, 2019
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