Huntington's disease (HD) is a rare disease characterized by abnormal chorea movement and caused by the Huntingtin (Htt) gene mutation and neurodegeneration in a brain area called the striatum. A research group led by Dr. ...
Feb 28, 2020
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Neurodegenerative diseases, like Huntington's disease and myotonic dystrophy, are often referred to as DNA repeat diseases, named because of long repeated sequences in the DNA of patients. Increasing repeat expansion length ...
Feb 27, 2020
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Parkinson's disease researchers have used gene-editing tools to introduce the disorder's most common genetic mutation into marmoset monkey stem cells and to successfully tamp down cellular chemistry that often goes awry in ...
Feb 27, 2020
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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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