Today, nearly 900 disorders caused by a single gene are known to be treatable. Yet the recommended "heel stick" testing for newborns only covers about 60 inherited, treatable disorders, and many individual states screen for ...
Oct 18, 2023
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"Bad" cholesterol isn't the only culprit linked with a higher risk of cardiovascular disease, according to a trio of recent University of Alberta studies—including landmark global research—showing that a different kind ...
Oct 16, 2023
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In a landmark study of 125 Australian children with high-risk cancer—whose tumor cells were grown in the lab and tested against a suite of potential therapies—Children's Cancer Institute researchers have found that they ...
Aug 2, 2023
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Rady Children's Institute for Genomic Medicine (RCIGM) today announced the publication of a study in the American Journal of Human Genetics (AJHG) describing a scalable prototype for newborn screening (NBS) that includes ...
Aug 24, 2022
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Expanded genomic sequencing may be an effective adjunct hearing screening to detect hearing loss among patients in the neonatal intensive care unit (NICU), according to a study published online July 11 in JAMA Network Open.
Jul 12, 2022
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Screening people's genomes as part of routine primary care can spot genetic changes that may have important implications for health, a new study reports.
Jun 3, 2022
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By sequencing known genes associated with cardiac arrhythmia risk in more than 20,000 people without an indication for genetic testing, scientists were able to identify pathogenic and likely pathogenic variants in nearly ...
Feb 10, 2022
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As the race against time to find a drug for COVID-19 continues, a team of experts is using a supercomputing platform to combat the current outbreak and efficiently counter future pandemics. At the core of these efforts is ...
Apr 21, 2020
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One of the most astounding discoveries of recent times is just how much influence gut bacteria have on our health and well-being. In addition to extracting nutrients from food, the collective activity of these tiny organisms ...
Dec 3, 2019
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Epigenetic processes enable cells to respond to changes in their environment by regulating the activity of their genes. One of the proteins that plays a key role in gene activation is BRD4, a well-characterized "epigenetic ...
May 29, 2019
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