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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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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Dietary fibre may be a new tool in the prevention of progressive lung disease, thanks to the production of anti-inflammatory short chain fatty acids (SCFA), according to a new study by Australia's Priority Research Centre ...
Apr 5, 2019
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Opitz C syndrome (OCS), an ultra-rare disease that causes serious physical and intellectual disabilities, has an heterogeneous genetic base that makes its medical diagnostic and therapeutic intervention difficult, according ...
Apr 5, 2019
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A few months ago, Lisa Diller saw a family for a consultation in her cancer clinic. Their story is one of tragedy, and of hope.
Apr 1, 2019
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Researchers have identified two, extremely rare genetic variants linked to Alzheimer disease (AD) for the first time.
Mar 29, 2019
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International Rare Disease Day is upon us. People around the world spend Feb. 28 raising awareness about the impact that diseases with low prevalence have on patients and their families.
Feb 28, 2019
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Wilson disease (copper storage disease) is a rare genetic disorder in which one or more genetic mutations disrupt copper metabolism in the liver. At some point, the liver becomes incapable of eliminating copper with bile, ...
Feb 26, 2019
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A small pilot clinical study at the National Eye Institute (NEI) suggests that the drug nitisinone increases melanin production in some people with oculocutaneous albinism type 1B (OCA-1B), a rare genetic disease that causes ...
Feb 20, 2019
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In 2015, then President Barack Obama launched a precision medicine initiative, saying that its promise was "delivering the right treatments, at the right time, every time to the right person." A biomedical engineer at Washington ...
Dec 19, 2018
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