According to recent studies, approximately one out of every 40 individuals in the United States is a carrier of the gene responsible for spinal muscular atrophy (SMA), a neurodegenerative disease that causes muscles to weaken ...
Sep 15, 2014
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Twist and hold your neck to the left. Now down, and over to the right, until it hurts. Now imagine your neck – or arms or legs – randomly doing that on their own, without you controlling it.
Jun 17, 2014
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Heart valve defects are a common cause of death in newborns. Scientists at the University of Bonn and the caesar research center have discovered "Creld1" is a key gene for the development of heart valves in mice. The researchers ...
Mar 31, 2014
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Scientists and parents have worked together to identify a new genetic disease that causes neurologic, muscle, eye and liver problems in children. The discovery was unusually fast thanks to a combination of modern gene-sequencing ...
Mar 20, 2014
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The study, published in The American Journal of Human Genetics, detected and identified a new disease gene (ERCC6L2). In its normal form, the gene plays a key role in protecting DNA from damaging agents, but when the gene ...
Feb 6, 2014
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A new gene therapy has restored some sight in people born with an inherited, progressive form of blindness. The technique replaces a defective gene in the eye with a normal working copy of the gene using a single injection.
Jan 15, 2014
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In nearly one-third of patients with Waldenstrom's Macroglobulinemia, a specific genetic mutation switches on the disease, and a new drug that blocks the defective gene can arrest the disease in animal models, researchers ...
Dec 9, 2013
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A telestroke service increases the rate of effective tissue plasminogen activator (tPA) therapy for patients with acute ischemic stroke treated at community hospitals, according to a report in the October issue of Neurosurgery, ...
Oct 1, 2013
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A multi-institutional team led by Dianna Milewicz, M.D., Ph.D., of The University of Texas Health Science Center at Houston (UTHealth) has found a recurrent genetic mutation that has been linked to deadly thoracic aortic ...
Aug 15, 2013
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A mutation in a gene crucial to normal heart development could play a role in some types of congenital heart disease—the most common birth defect in the U.S. The finding, from a team in The Research Institute at Nationwide ...
Jul 29, 2013
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