A research team has described five new cases of a rare disease known as KAT6A syndrome, of which there are only 80 dominant cases worldwide. This neurological and developmental disorder, caused by alterations in the lysine ...
Feb 26, 2020
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A new CRISPR gene-editing technique prevented a genetic liver disease known to be driven by hundreds of different mutations and improved clinical symptoms in mice, Penn Medicine researchers reported in new proof-of-concept ...
Feb 12, 2020
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An emergency room physician, initially unable to diagnose a disoriented patient, finds on the patient a wallet-sized card providing access to his genome, or all his DNA. The physician quickly searches the genome, diagnoses ...
Feb 12, 2020
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A team of researchers at CHU Sainte-Justine and Université de Montréal has shed light on the mechanisms that underlie a rare genetic condition by creating the first cellular model of the disease. The study's findings were ...
Jan 22, 2020
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Often, patients from the same family and carriers of the same genetic mutation, develop a disease differently. This disparity may be due to the existence of mutations in other secondary genes, which influence the onset and ...
Jan 21, 2020
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Scientists at Rutgers University-Newark have discovered that when a key protein needed to generate new brain cells during prenatal and early childhood development is missing, part of the brain goes haywire—causing an imbalance ...
Jan 9, 2020
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Atomic-level studies of the architecture of tiny sodium channel proteins, critical to generating electrical signals that start off each beat of the heart, are imparting striking details about their function, malfunctions, ...
Dec 20, 2019
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The causes of rare diseases could be uncovered using an approach created to identify genetic mutations that trigger a muscle-wasting condition, a study suggests.
Dec 18, 2019
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Research led by Nicolas Bazan, MD, Ph.D., Boyd Professor and Director of the Neuroscience Center of Excellence at LSU Health New Orleans School of Medicine, has discovered unique patterns of genetic activity that may lead ...
Dec 10, 2019
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The cause of amyotrophic lateral sclerosis (ALS)—a disabling neurodegenerative disease that affects nerve cells in the brain and spinal cord and leads to weakened muscles and early death—is not fully understood, but accumulating ...
Nov 27, 2019
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