Neurodevelopmental disorders arising from rare genetic mutations can cause atypical cognitive function, intellectual disability, and developmental delays, yet it is unclear why and how this happens. Scientists suspected a ...
Jul 30, 2019
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The team under Professor Tom Lenaerts (VUB-ULB) of the IB² has developed an AI algorithm that makes it possible to identify combinations of genetic variants or abnormalities that cause rare diseases through computer analysis. ...
Jun 5, 2019
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Researchers at Nemours Children's Health System have developed a new low-cost genetic test that accurately identified more than 200 known disease-causing gene variations in two high-risk populations, the Old Order Amish and ...
Apr 25, 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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Milk can be lethal to babies with classic galactosemia, a rare genetic disorder that severely impairs the body's ability to process a milk sugar known as galactose and is associated with a host of neurodevelopmental issues. ...
Mar 19, 2019
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Red blood cells are the most plentiful cell type in our blood and play a vital role transporting oxygen around our body and waste carbon dioxide to the lungs. Injuries that cause significant blood loss prod the body to secrete ...
Mar 1, 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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An international team of researchers, led by MCRI, have identified a rare genetic brain disorder that causes severe neurological damage in children after a mild episode of fever or illness.
Jan 18, 2019
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Fresh discoveries about a rare genetic disorder that affects mainly boys may inform the development of therapies to treat the condition.
Dec 12, 2018
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