One in five very low-birth-weight, premature infants suffers a life-threatening brain hemorrhage, often originating in a vital region known as the germinal matrix. In a recently published study in the journal Developmental ...
Mar 13, 2018
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"It came completely out of the blue," says James*. They had thought it was his father's knees that were the problem – he was never comfortable and was constantly shifting them. "He went to the doctor, and he said, 'You ...
Mar 6, 2018
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A University of Iowa-led team of researchers has used the gene editing method called CRISPR-Cas9 to disrupt a mutant gene that is responsible for some forms of glaucoma, one of the most common causes of irreversible blindness.
Oct 2, 2017
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A mutated gene in patients lacking a nose has been identified by an international team, a first step toward understanding nose development and possible therapies for another condition.
Sep 15, 2017
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Smith-Lemli-Opitz syndrome (SLOS) is a rare disease that occurs when patients inherit from both parents defects in the Dhcr7 gene, which encodes the last enzyme in the cholesterol biosynthesis pathway. A large portion of ...
Aug 24, 2017
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New research into Rett syndrome therapeutics suggests that a small molecule already reported to improve respiratory problems associated with the disease may also improve spatial memory and motor skill defects.
Jul 5, 2017
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In a first-of-its-kind study published in the March 1, 2017 edition of Molecular Therapy, researchers from the National Institute on Deafness and Other Communication Disorders (NIDCD) and Johns Hopkins University School of ...
Mar 23, 2017
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A single injection of a new treatment has reduced the activity of the gene responsible for Huntington's disease for several months in a trial in mice.
Sep 9, 2016
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In rare cases—for instance, among siblings in two families from Pakistan and Oman described in a new study—children have been born with an unnamed neurological disorder. Now researchers have not only identified the genetic ...
Sep 5, 2016
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The aorta, the body's largest artery, is like a hose through which our blood flows. When the hose is squeezed, the pump (i.e., the heart) is forced to work harder. In a new study, Yale researchers investigated factors that ...
Feb 9, 2016
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