Mutations can be good and bad. Sometimes they help an organism adapt and survive. Other times they are so harmful that an organism can't survive or reproduce. Cold Spring Harbor Laboratory (CSHL) Professor Adam Siepel's team ...
Sep 22, 2022
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In 2016, Spinraza became a game-changer for spinal muscular atrophy (SMA) patients. It was the first FDA-approved treatment for the neurodegenerative disease, which is the leading genetic cause of infant death. The drug ...
Jul 13, 2022
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The stretches of DNA that differ from person to person, called variants, are a major part of what makes us unique, but they can also put us at greater risk of disease. Although we can currently spell out between 80% and 90% ...
Feb 7, 2022
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Until recently, babies and children with spinal muscular atrophy (SMA) lacked any type of treatment capable of stopping the neuromuscular disease from progressing. In SMA, damaged motor neurons in the spinal cord fail to ...
Aug 20, 2021
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Researchers rescued mice from early death caused by a muscle-weakening disease, not by correcting the flawed gene that causes it, but instead by targeting another protein in the same signaling pathway.
Jun 23, 2021
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In a paper published today in Nature Communications, an international group of collaborators led by researchers at UPMC Children's Hospital of Pittsburgh have identified a genetic cause of a rare neurological disorder marked ...
May 7, 2021
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In a mouse study, National Institutes of Health researchers have identified and mapped a diverse spectrum of motor neurons along the spinal cord. These neurons, which send and receive messages throughout the body, include ...
Apr 30, 2021
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Penn Medicine researchers have developed a new targeted approach to prevent a toxicity seen in the sensory neurons of dorsal root ganglia after gene therapy to treat neurological disorders. It's an important hurdle to clear, ...
Nov 11, 2020
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A method to create a faster and lower cost alternative for a gene therapy tool has been developed by Boston University School of Medicine (BUSM) researchers.
Sep 19, 2019
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U.S. regulators have approved the most expensive medicine ever, for a rare disorder that destroys a baby's muscle control and kills nearly all of those with the most common type of the disease within a couple of years.
May 24, 2019
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