A single genetic test could potentially replace the current two-step approach to diagnosing rare developmental disorders in children. This shift could enable earlier diagnoses for families and save the NHS vital resources.
Mar 28, 2024
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In a discovery that opens the door to a less invasive way of treating some serious disorders before birth, UC San Francisco scientists have found that delivering medicine through amniotic fluid is as effective as delivering ...
Mar 4, 2024
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In a first, Tel Aviv University researchers have discovered that the production and regulation of mitochondrial organelles in the brain's nerve cells (neurons) becomes significantly impaired with the deletion of a gene called ...
Jan 10, 2024
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Researchers from the University of Tokyo reveal how the presynaptic Ube3a E3 ligase, a causal factor in Angelman syndrome, eliminates neural chatter. The study helps find a better drug target for the Angelman syndrome treatment.
Sep 14, 2023
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More than 5,000 people are diagnosed annually with ALS (amyotrophic lateral sclerosis), a fatal, neurodegenerative disease that attacks nerve cells in the brain and spinal cord, gradually robbing people of the ability to ...
Jun 6, 2023
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Researchers at Texas A&M University have developed the first molecular therapeutic for Angelman syndrome to advance into clinical development.
Mar 23, 2023
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Hereditary diseases as well as cancers and cardiovascular diseases may be associated with a phenomenon known as genomic imprinting, in which only the maternally or paternally inherited gene is active. An international research ...
Jan 12, 2022
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Babies born with a faulty maternal copy of the UBE3A gene will develop Angelman syndrome, a severe neurodevelopmental disorder with no cure and limited treatments. Now, for the first time, scientists at the UNC School of ...
Oct 21, 2020
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A key mechanism underlying neuronal dysfunction in Angelman syndrome (AS), a syndromic form of autism spectrum disorder, has—for the first time—been revealed through innovative research led by Duke-NUS Medical School ...
Jan 15, 2020
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A marijuana plant extract, also known as cannabidiol (CBD), is being commonly used to improve anxiety, sleep problems, pain, and many other neurological conditions. Now UNC School of Medicine researchers show it may alleviate ...
Sep 18, 2019
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