MeSH tree: C16.320.322
New research has identified the enzyme glutamate dehydrogenase 1 (GLUD1) as a new therapeutic target for Duchenne muscular dystrophy (DMD). In preclinical DMD mouse models, investigators demonstrated that inhibiting GLUD1 ...
Jul 16, 2025
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Scientists from the Centenary Institute and the University of Sydney have made a landmark discovery that could lead to safer and more effective gene therapies for a range of serious genetic disorders including Duchenne muscular ...
Jul 15, 2025
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Rett syndrome is a devastating rare genetic childhood disorder primarily affecting girls. Merely 1 out of 10,000 girls are born with it and much fewer boys. It is caused by mutations in the MeCP2 gene on the X chromosome, ...
Jul 2, 2025
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Researchers at Tohoku University have discovered that an oral drug called MA-5 can improve both heart and muscle problems in Barth syndrome, a rare genetic disorder affecting 1 in 300,000 births worldwide with no current ...
Jul 1, 2025
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A gene transfer approach to treating the bleeding disorder hemophilia B remains safe and effective long-term, as scientists from St. Jude Children's Research Hospital and University College London today report thirteen years ...
Jun 12, 2025
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Researchers have developed an innovative new nanopore sequencing assay to identify carriers of fragile X syndrome (FXS), the leading cause of monogenic autism spectrum disorder and inherited intellectual disabilities. The ...
Jun 12, 2025
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To help neurologists, clinicians and families understand the current evidence for a new gene therapy for Duchenne muscular dystrophy called delandistrogene moxeparvovec, the American Academy of Neurology (AAN) has issued ...
May 14, 2025
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When we hear the word "dementia," we usually think of memory loss in older adults. But there's another, much rarer form of the disease that strikes far earlier in life—childhood dementia, also known as Batten disease.
May 12, 2025
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The U.S. Food and Drug Administration (FDA) has chosen Dr. Vinay Prasad, a professor at the University of California-San Francisco, to lead its Center for Biologics Evaluation and Research.
May 7, 2025
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A new study led by researchers at the Hospital for Special Surgery (HSS) suggests that currently available therapies may help control chronic muscle inflammation in Duchenne muscular dystrophy (DMD), a severe condition that ...
Apr 30, 2025
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